Kathryn North

Visual spatial learning outcomes for clinical trials in neurofibromatosis type 1

Nicole J Ullrich, Jonathan M Payne, Karin S Walsh, Gary Cutter, Roger Packer, Kathryn North, Celiane Rey-Casserly

Journal article  |  2020  |  Annals of Clinical and Translational Neurology

Cognitive problems are common in children with neurofibromatosis type 1, representing a significant source of lifelong morbidity. ..

Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1

Jonathan M Payne, Kristina M Haebich, Rachel MacKenzie, Karin S Walsh, Stephen JC Hearps, David Coghill, Belinda Barton, Natalie A Pride, Nicole J Ullrich, James H Tonsgard, David Viskochil, Elizabeth K Schorry, Laura Klesse, Michael J Fisher, David H Gutmann, Tena Rosser, Roger J Packer, Bruce Korf, Maria T Acosta, Mark A Bellgrove, et al.

Journal article  |  2019  |  Journal of Attention Disorders

Objective: We examined the contribution of attention and executive cognitive processes to ADHD symptomatology in NF1, as well as t..

Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1.

Jonathan M Payne, Stephen JC Hearps, Karin S Walsh, Iris Paltin, Belinda Barton, Nicole J Ullrich, Kristina M Haebich, David Coghill, Gerard A Gioia, Alan Cantor, Gary Cutter, James H Tonsgard, David Viskochil, Celiane Rey-Casserly, Elizabeth K Schorry, Joseph D Ackerson, Laura Klesse, Michael J Fisher, David H Gutmann, Tena Rosser, et al.

Journal article  |  2019  |  Annals of Clinical and Translational Neurology

OBJECTIVE: Rapid developments in understanding the molecular mechanisms underlying cognitive deficits in neurodevelopmental disord..

A "human knockout" model to investigate the influence of the alpha-actinin-3 protein on exercise-induced mitochondrial adaptations

ID Papadimitriou, N Eynon, X Yan, F Munson, M Jacques, J Kuang, S Voisin, KN North, DJ Bishop

Journal article  |  2019  |  Scientific Reports

Understanding autism spectrum disorder and social functioning in children with neurofibromatosis type 1: protocol for a cross-sectional multimodal study

Kristina M Haebich, Natalie A Pride, Karin S Walsh, Anita Chisholm, Melissa Rouel, Alice Maier, Vicki Anderson, Belinda Barton, Tim Silk, Mayuresh Korgaonkar, Marc Seal, Francesca Lami, Jennifer Lorenzo, Katrina Williams, Gabriel Dabscheck, Caroline D Rae, Michael Kean, Kathryn N North, Jonathan M Payne

Journal article  |  2019  |  BMJ Open

INTRODUCTION: Children with the single-gene disorder neurofibromatosis type 1 (NF1) appear to be at an increased risk for autism s..

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare

Zornitza Stark, Tiffany Boughtwood, Peta Phillips, John Christodoulou, David P Hansen, Jeffrey Braithwaite, Ainsley J Newson, Clara L Gaff, Andrew H Sinclair, Kathryn N North

Journal article  |  2019  |  The American Journal of Human Genetics

A transformative translational change programme to introduce genomics into healthcare: a complexity and implementation science study protocol

Natalie Taylor, Stephanie Best, Melissa Martyn, Janet C Long, Kathryn N North, Jeffrey Braithwaite, Clara Gaff

Journal article  |  2019  |  BMJ Open

Heritability of Muscle Size and Strength Traits

Martine Thomis

Book Chapter  |  2019

Building a learning community of Australian clinical genomics: a social network study of the Australian Genomic Health Alliance

Janet C Long, Chiara Pomare, Stephanie Best, Tiffany Boughtwood, Kathryn North, Louise A Ellis, Kate Churruca, Jeffrey Braithwaite

Journal article  |  2019  |  BMC Medicine

BACKGROUND: Adopting clinical genomics represents a major systems-level intervention requiring diverse expertise and collective le..

Attention to faces in social context in children with neurofibromatosis type 1

Amelia K Lewis, Melanie A Porter, Tracey A Williams, Samantha Bzishvili, Kathryn N North, Jonathan M Payne

Journal article  |  2019  |  Developmental Medicine & Child Neurology

AIM: To examine visual attention to faces within social scenes in children with neurofibromatosis type 1 (NF1) and typically devel..

Integrating Genomics into Healthcare: A Global Responsibility

Zornitza Stark, Lena Dolman, Teri A Manolio, Brad Ozenberger, Sue L Hill, Mark J Caulfied, Yves Levy, David Glazer, Julia Wilson, Mark Lawler, Tiffany Boughtwood, Jeffrey Braithwaite, Peter Goodhand, Ewan Birney, Kathryn N North

Journal article  |  2019  |  The American Journal of Human Genetics

ALpha-Actinin-3’s Role in the Genetic Control of Muscle Strength and Performance

JT Seto, FC Garton, KN North, PJ Houweling

Book Chapter  |  2019

The α-actinin-3 gene (ACTN3) R577X polymorphism is one of the most highly studied genetic variations associated with human skeleta..

Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease

Peter J Houweling, Ioannis D Papadimitriou, Jane T Seto, Laura M Perez, Juan Del Coso, Kathryn N North, Alejandro Lucia, Nir Eynon

Journal article  |  2018  |  Human Mutation

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

Melissa S Cline, Rachel G Liao, Michael T Parsons, Benedict Paten, Faisal Alquaddoomi, Antonis Antoniou, Samantha Baxter, Larry Brody, Robert Cook-Deegan, Amy Coffin, Fergus J Couch, Brian Craft, Robert Currie, Chloe C Dlott, Lena Dolman, Johan T den Dunnen, Stephanie OM Dyke, Susan M Domchek, Douglas Easton, Zachary Fischmann, et al.

Journal article  |  2018  |  PLOS Genetics

The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy

Mathula Thangarajh, Gary L Elfring, Panayiota Trifillis, Joseph McIntosh, Stuart W Peitz, Monique M Ryan, Andrew J Kornberg, Victoria RodriguezCasero, Alison Wray, Kristi J Jones, Kathryn North, Nathalie Goemans, Gunnar Marceo Buyse, Craig Campbell, Jean Mah, Harvey Sarnat, Kathryn Selby, Thomas Voit, Valerie Doppler, Denis De Castro, et al.

Journal article  |  2018  |  Neurology

Social Function and Autism Spectrum Disorder in Children and Adults with Neurofibromatosis Type 1: a Systematic Review and Meta-Analysis

Anita K Chisholm, Vicki A Anderson, Natalie A Pride, Stephanie Malarbi, Kathryn N North, Jonathan M Payne

Journal article  |  2018  |  Neuropsychology Review

Effects of methylphenidate on cognition and behaviour in children with neurofibromatosis type 1: a study protocol for a randomised placebo-controlled crossover trial

Natalie A Pride, Belinda Barton, Paul Hutchins, David R Coghill, Mayuresh S Korgaonkar, Stephen JC Hearps, Melissa Rouel, Stephanie Malarbi, Kathryn N North, Jonathan M Payne

Journal article  |  2018  |  BMJ Open

Preliteracy impairments in children with neurofibromatosis type 1

Shelley S Arnold, Jonathan M Payne, Jennifer Lorenzo, Kathryn N North, Belinda Barton

Journal article  |  2018  |  Developmental Medicine & Child Neurology

Branched fibers from old fast-twitch dystrophic muscles are the sites of terminal damage in muscular dystrophy

Leonit Kiriaev, Sindy Kueh, John W Morley, Kathryn N North, Peter J Houweling, Stewart Head

Journal article  |  2018  |  American Journal of Physiology-Cell Physiology

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C Oates, Kristi J Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E Smith, James S Ware, Kyle S Yau, Lindsay C Swanson, Nicola Whiffin, Anthony J Peduto, Adam Bournazos, Leigh B Waddell, Michelle A Farrar, Hugo A Sampaio, Hooi Ling Teoh, Phillipa J Lamont, David Mowat, Robin B Fitzsimons, Alastair J Corbett, et al.

Journal article  |  2018  |  Annals of Neurology

The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance

Fleur C Garton, Peter J Houweling, Damjan Vukcevic, Lyra R Meehan, Fiona XZ Lee, Monkol Lek, Kelly N Roeszler, Marshall W Hogarth, Chrystal F Tiong, Diana Zannino, Nan Yang, Stephen Leslie, Paul Gregorevic, Stewart I Head, Jane T Seto, Kathryn N North

Journal article  |  2018  |  The American Journal of Human Genetics

Monitoring of optic nerve function in Neurofibromatosis 2 children with optic nerve sheath meningiomas using multifocal visual evoked potentials

V Jayanetti, AI Klistorner, SL Graham, M Dexter, MP Flaherty, K Jones, FA Billson, M Wilson, K North, JR Grigg, CL Fraser

Journal article  |  2018  |  Journal of Clinical Neuroscience

Impaired engagement of the ventral attention system in neurofibromatosis type 1

Natalie A Pride, Mayuresh S Korgaonkar, Kathryn N North, Jonathan M Payne

Journal article  |  2018  |  Brain Imaging and Behavior

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant

Sarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, Beryl B Cummings, Leigh B Waddell, Kristi J Jones, Christopher Troedson, Annapurna Sudarsanam, Benjamin M Nash, Gregory B Peters, Elizabeth M Algar, Daniel G MacArthur, Kathryn N North, Susan Brammah, Amanda Charlton, Nigel G Laing, Meredith J Wilson, Mark R Davis, Sandra T Cooper

Journal article  |  2018  |  Human Mutation

No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes

Ioannis D Papadimitriou, Sarah J Lockey, Sarah Voisin, Adam J Herbert, Fleur Garton, Peter J Houweling, Pawel Cieszczyk, Agnieszka Maciejewska-Skrendo, Marek Sawczuk, Myosotis Massidda, Carla Maria Calo, Irina V Astratenkova, Anastasia Kouvatsi, Anastasiya M Druzhevskaya, Macsue Jacques, Ildus I Ahmetov, Georgina K Stebbings, Shane Heffernan, Stephen H Day, Robert Erskine, et al.

Journal article  |  2018  |  BMC Genomics

Allelic Variation in Key Fitness Genes is Linked with Increased Severity of Obesity in Overweight/obese Youth

Christoph Saner, Brooke E Harcourt, Markus Juonala, Kung-Ting Kao, Peter Houweling, Fleur Garton, Kathryn N North, Matthew A Sabin

Conference Proceedings  |  2018  |  HORMONE RESEARCH IN PAEDIATRICS

The kids are OK: it is discrimination, not same-sex parents, that harms children

Ken W Knight, Sarah EM Stephenson, Sue West, Martin B Delatycki, Cheryl A Jones, Melissa H Little, George C Patton, Susan M Sawyer, S Rachel Skinner, Michelle M Telfer, Melissa Wake, Kathryn N North, Frank Oberklaid

Journal article  |  2017  |  The Medical journal of Australia

Androgen Action via the Androgen Receptor in Neurons Within the Brain Positively Regulates Muscle Mass in Male Mice

Rachel A Davey, Michele V Clarke, Patricia K Russell, Kesha Rana, Jane Seto, Kelly N Roeszler, Jackie MY How, Ling Yeong Chia, Kathryn North, Jeffrey D Zajac

Journal article  |  2017  |  Endocrinology

Self-reported knee pain and disability among healthy individuals: reference data and factors associated with the Knee injury and Osteoarthritis Outcome Score (KOOS) and KOOS-Child.

JN Baldwin, MJ McKay, M Simic, CE Hiller, N Moloney, EJ Nightingale, J Burns, undefined 1000 Norms Project Consortium

Journal article  |  2017  |  Osteoarthritis and Cartilage

OBJECTIVE: To develop normative reference data for the Knee injury and Osteoarthritis Outcome Score (KOOS) and KOOS-Child, as well..

The neural basis of deficient response inhibition in children with neurofibromatosis type 1: Evidence from a functional MRI study

Natalie A Pride, Mayuresh S Korgaonlzar, Kathryn N North, Belinda Barton, Jonathan M Payne

Journal article  |  2017  |  Cortex

Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness

Sara M Willems, Daniel J Wright, Felix R Day, Katerina Trajanoska, Peter K Joshi, John A Morris, Amy M Matteini, Fleur C Garton, Niels Grarup, Nikolay Oskolkov, Anbupalam Thalamuthu, Massimo Mangino, Jun Liu, Ayse Demirkan, Monkol Lek, Liwen Xu, Guan Wang, Christopher Oldmeadow, Kyle J Gaulton, Luca A Lotta, et al.

Journal article  |  2017  |  Nature Communications

Exploring the relationship between alpha-actinin-3 deficiency and obesity in mice and humans

PJ Houweling, YD Berman, N Turner, KGR Quinlan, JT Seto, N Yang, M Lek, DG Macarthur, G Cooney, KN North

Journal article  |  2017  |  International Journal of Obesity

Atypical Local Interference Affects Global Processing in Children with Neurofibromatosis Type 1

Jonathan M Payne, Melanie A Porter, Samantha Bzishvili, Kathryn N North

Journal article  |  2017  |  Journal of the International Neuropsychological Society

Can in-the-moment diary methods measure health-related quality of life in Duchenne muscular dystrophy?

Paula Bray, Anita C Bundy, Monique M Ryan, Kathryn N North

Journal article  |  2017  |  Quality of Life Research

Facial Emotion Recognition, Face Scan Paths, and Face Perception in Children With Neurofibromatosis Type 1

Amelia K Lewis, Melanie A Porter, Samantha Bzishvili, Tracey A Williams, Kathryn N North, Jonathan M Payne

Journal article  |  2017  |  Neuropsychology

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A Reghan Foley, Veronique Bolduc, Leigh B Waddell, Sarah A Sandaradura, Gina L O'Grady, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Ben Weisburd, Konrad J Karczewski, Anne H O'Donnell-Luria, Daniel Birnbaum, Anna Sarkozy, Ying Hu, Hernan Gonorazky, et al.

Journal article  |  2017  |  SCIENCE TRANSLATIONAL MEDICINE

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A Reghan Foley, Veronique Bolduc, Leigh B Waddell, Sarah A Sandaradura, Gina L O'Grady, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Ben Weisburd, Konrad J Karczewski, Anne H O'Donnell-Luria, Daniel Birnbaum, Anna Sarkozy, Ying Hu, Hernan Gonorazky, et al.

Journal article  |  2017  |  Science Translational Medicine

Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their succe..

Reference values for developing responsive functional outcome measures across the lifespan.

Marnee J McKay, Jennifer N Baldwin, Paulo Ferreira, Milena Simic, Natalie Vanicek, Joshua Burns, undefined 1000 Norms Project Consortium

Journal article  |  2017  |  Neurology

OBJECTIVE: To generate a reference dataset of commonly performed functional outcome measures in 1,000 children and adults and inve..

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

Deborah Schofield, Khurshid Alam, Lyndal Douglas, Rupendra Shrestha, Daniel G MacArthur, Mark Davis, Nigel G Laing, Nigel F Clarke, Joshua Burns, Sandra T Cooper, Kathryn N North, Sarah A Sandaradura, Gina L O'Grady

Journal article  |  2017  |  npj Genomic Medicine

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

Marshall W Hogarth, Peter J Houweling, Kristen C Thomas, Heather Gordish-Dressman, Luca Bello, Elena Pegoraro, Eric P Hoffman, Stewart I Head, Kathryn N North

Journal article  |  2017  |  Nature Communications

Normative reference values for strength and flexibility of 1,000 children and adults

Marnee J McKay, Jennifer N Baldwin, Paulo Ferreira, Milena Simic, Natalie Vanicek, Joshua Burns

Journal article  |  2017  |  Neurology

Neurofibromatosis Type 2: Presentation, Major Complications, and Management, With a Focus on the Pediatric Age Group

Simone Ardern-Holmes, Gemma Fisher, Kathryn North

Journal article  |  2017  |  Journal of Child Neurology

Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1

Jonathan M Payne, Belinda Barton, Nicole J Ullrich, Alan Cantor, Stephen JC Hearps, Gary Cutter, Tena Rosser, Karin S Walsh, Gerard A Gioia, Pamela L Wolters, James Tonsgard, Elizabeth Schorry, David Viskochil, Laura Klesse, Michael Fisher, David H Gutmann, Alcino J Silva, Scott J Hunter, Celiane Rey-Casserly, Nancy L Cantor, et al.

Journal article  |  2016  |  Neurology

Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1 A Study of the International NF1-ASD Consortium Team (INFACT)

Stephanie M Morris, Maria T Acosta, Shruti Garg, Jonathan Green, Susan Huson, Eric Legius, Kathryn N North, Jonathan M Payne, Ellen Plasschaert, Thomas W Frazier, Lauren A Weiss, Yi Zhang, David H Gutmann, John N Constantino

Journal article  |  2016  |  JAMA Psychiatry

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Gina L O'Grady, Heather A Best, Tamar E Sztal, Vanessa Schartner, Tvlyriam Sanjuan-Vazquez, Sandra Donkervoort, Osorio Abath Neto, Roger Bryan Sutton, Biljana Ilkovski, Norma Beatriz Romero, Tanya Stojkovic, Jahannaz Dastgir, Leigh B Waddell, Anne Boland, Ying Hu, Caitlin Williams, Avnika A Ruparelia, Thierry Maisonobe, Anthony J Peduto, Stephen W Reddel, et al.

Journal article  |  2016  |  The American Journal of Human Genetics

Association Study of Exon Variants in the NF-kappa B and TGF beta Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

Luca Bello, Kevin M Flanigan, Robert B Weiss, Pietro Spitali, Annemieke Aartsma-Rus, Francesco Muntoni, Irina Zaharieva, Alessandra Ferlini, Eugenio Mercuri, Sylvie Tuffery-Giraud, Mireille Claustres, Volker Straub, Hanns Lochmuller, Andrea Barp, Sara Vianello, Elena Pegoraro, Jaya Punetha, Heather Gordish-Dressman, Mamta Giri, Craig M McDonald, et al.

Journal article  |  2016  |  The American Journal of Human Genetics

The expressivity of Mendelian diseases can be influenced by factors independent from the pathogenic mutation: in Duchenne muscular..

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome

Gina L O'Grady, Corien Verschuuren, Michaela Yuen, Richard Webster, Manoj Menezes, Johanna M Fock, Natalie Pride, Heather A Best, Tatiana Benavides Damm, Christian Turner, Monkol Lek, Andrew G Engel, Kathryn N North, Nigel F Clarke, Daniel G MacArthur, Erik-Jan Kamsteeg, Sandra T Cooper

Journal article  |  2016  |  Neurology

Phonics Training Improves Reading in Children with Neurofibromatosis Type 1: A Prospective Intervention Trial

Shelley S Arnold, Belinda Barton, Genevieve McArthur, Kathryn N North, Jonathan M Payne

Journal article  |  2016  |  The Journal of Pediatrics

Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement

E Oates, K Yau, S Donkervoort, L Swanson, S Brammah, A Topf, I Richard, A Ferreiro, E Hoffman, K Bushby, V Straub, B Udd, M Lek, D MacArthur, H Granzier, A Beggs, C Bonnemann, K North, M Davis, N Laing

Journal article  |  2016  |  Neuromuscular Disorders

Current status and recommendations for biomarkers and biobanking in neurofibromatosis

C Oliver Hanemann, Jaishri O Blakeley, Fabio P Nunes, Kent Robertson, Anat Stemmer-Rachamimov, Victor Mautner, Andreas Kurtz, Michael Ferguson, Brigitte C Widemann, D Gareth Evans, Rosalie Ferner, Steven L Carroll, Bruce Korf, Pierre Wolkenstein, Pamela Knight, Scott R Plotkin

Journal article  |  2016  |  Neurology

Current whole-body MRI applications in the neurofibromatoses NF1, NF2, and schwannomatosis

Shivani Ahlawat, Laura M Fayad, Muhammad Shayan Khan, Miriam A Bredella, Gordon J Harris, D Gareth Evans, Said Farschtschi, Michael A Jacobs, Avneesh Chhabra, Johannes M Salamon, Ralph Wenzel, Victor F Mautner, Eva Dombi, Wenli Cai, Scott R Plotkin, Jaishri O Blakeley

Journal article  |  2016  |  Neurology

Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials

Pamela L Wolters, Staci Martin, Vanessa L Merker, James H Tonsgard, Sondra E Solomon, Andrea Baldwin, Amanda L Bergner, Karin Walsh, Heather L Thompson, Kathy L Gardner, Cynthia M Hingtgen, Elizabeth Schorry, William N Dudley, Barbara Franklin

Journal article  |  2016  |  Neurology

Neurocognitive outcomes in neurofibromatosis clinical trials Recommendations for the domain of attention

Karin S Walsh, Jennifer Janusz, Pamela L Wolters, Staci Martin, Bonita P Klein-Tasman, Mary Anne Toledo-Tamula, Heather L Thompson, Jonathan M Payne, Kristina K Hardy, Peter de Blank, Claire Semerjian, Laura Schaffner Gray, Sondra E Solomon, Nicole Ullrich

Journal article  |  2016  |  Neurology

Sleep and pulmonary outcomes for clinical trials of airway plexiform neurofibromas in NF1

Scott R Plotkin, Stephanie D Davis, Kent A Robertson, Srivandana Akshintala, Julian Allen, Michael J Fisher, Jaishri O Blakeley, Brigitte C Widemann, Rosalie E Ferner, Carole L Marcus

Journal article  |  2016  |  Neurology

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy

Roula Ghaoui, Tatiana Benavides, Monkol Lek, Leigh B Waddell, Simranpreet Kaur, Kathryn N North, Daniel G MacArthur, Nigel F Clarke, Sandra T Cooper

Journal article  |  2016  |  Neuromuscular Disorders

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease

Gina L O'Grady, Alan Ma, Deborah Sival, Monica TY Wong, Tony Peduto, Manoj P Menezes, Helen Young, Leigh Waddell, Roula Ghaoui, Merrilee Needham, Monkol Lek, Kathryn N North, Daniel G MacArthur, Conny MA van Ravenswaaij-Arts, Nigel F Clarke

Journal article  |  2016  |  Eur J Hum Genet

Diagnosis and Etiology of Congenital Muscular Dystrophy: We Are Halfway There

Gina L O'Grady, Monkol Lek, Shireen R Lamande, Leigh Waddell, Emily C Oates, Jaya Punetha, Roula Ghaoui, Sarah A Sandaradura, Heather Best, Simranpreet Kaur, Mark Davis, Nigel G Laing, Francesco Muntoni, Eric Hoffman, Daniel G MacArthur, Nigel F Clarke, Sandra Cooper, Kathryn North

Journal article  |  2016  |  Annals of Neurology

A federated ecosystem for sharing genomic, clinical data

Journal article  |  2016  |  Science

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

Jaya Punetha, Akanchha Kesari, Prech Uapinyoying, Mamta Giri, Nigel F Clarke, Leigh B Waddell, Kathryn N North, Roula Ghaoui, Gina L O'Grady, Emily C Oates, Sarah A Sandaradura, Carsten G Bönnemann, Sandra Donkervoort, Paul H Plotz, Edward C Smith, Carolina Tesi-Rocha, Tulio E Bertorini, Mark A Tarnopolsky, Bernd Reitter, Irena Hausmanowa-Petrusewicz, et al.

Journal article  |  2016  |  Journal of Neuromuscular Diseases

BACKGROUND: Molecular diagnostics in the genetic myopathies often requires testing of the largest and most complex transcript unit..

Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor

Frances A Lemckert, Adam Bournazos, Daniel M Eckert, Manuel Kenzler, Joanne M Hawkes, Tanya L Butler, Bradley Ceely, Kathryn N North, David S Winlaw, Jonathan R Egan, Sandra T Cooper

Journal article  |  2016  |  Cardiovasc Res

Theory of Mind in Children With Neurofibromatosis Type 1

Jonathan M Payne, Melanie Porter, Natalie A Pride, Kathryn N North

Journal article  |  2016  |  Neuropsychology

ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study

Ioannis D Papadimitriou, Alejandro Lucia, Yannis P Pitsiladis, Vladimir P Pushkarev, Dmitry A Dyatlov, Evgeniy F Orekhov, Guilherme G Artioli, Joao Paulo LF Guilherme, Antonio H Lancha, Valentina Gineviciene, Pawel Cieszczyk, Agnieszka Maciejewska-Karlowska, Marek Sawczuk, Carlos A Muniesa, Anastasia Kouvatsi, Myosotis Massidda, Carla Maria Calo, Fleur Garton, Peter J Houweling, Guan Wang, et al.

Journal article  |  2016  |  BMC Genomics

How does alpha-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'

Fiona XZ Lee, Peter J Houweling, Kathryn N North, Kate GR Quinlan

Journal article  |  2016  |  Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Uptake of health monitoring and disease self-management in Australian adults with neurofibromatosis type 1: strategies to improve care

HA Crawford, B Barton, MJ Wilson, Y Berman, VJ McKelvey-Martin, PJ Morrison, KN North

Journal article  |  2016  |  Clin Genet

Athlome Project Consortium: a concerted effort to discover genomic and other "omic" markers of athletic performance

Yannis P Pitsiladis, Masashi Tanaka, Nir Eynon, Claude Bouchard, Kathryn N North, Alun G Williams, Malcolm Collins, Colin N Moran, Steven L Britton, Noriyuki Fuku, Euan A Ashley, Vassilis Klissouras, Alejandro Lucia, Ildus I Ahmetov, Eco de Geus, Mohammed Alsayrafi

Journal article  |  2016  |  Physiological Genomics

The Effect of Heterozygosity for the ACTN3 Null Allele on Human Muscle Performance

Fleur C Garton, Kathryn N North

Journal article  |  2016  |  Med Sci Sports Exerc

Analysis of the ACTN3 heterozygous genotype suggests that alpha-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion

Marshall W Hogarth, Fleur C Garton, Peter J Houweling, Taru Tukiainen, Monkol Lek, Daniel G Macarthur, Jane T Seto, Kate GR Quinlan, Nan Yang, Stewart I Head, Kathryn N North

Journal article  |  2016  |  Human Molecular Genetics

Rodent models for resolving extremes of exercise and health

Fleur C Garton, Kathryn N North, Lauren G Koch, Steven L Britton, Gisela Nogales-Gadea, Alejandro Lucia

Journal article  |  2016  |  Physiological Genomics

No Evidence of a Common DNA Variant Profile Specific to World Class Endurance Athletes

Tuomo Rankinen, Noriyuki Fuku, Bernd Wolfarth, Guan Wang, Mark A Sarzynski, Dmitry G Alexeev, Ildus I Ahmetov, Marcel R Boulay, Pawel Cieszczyk, Nir Eynon, Maxim L Filipenko, Fleur C Garton, Edward V Generozov, Vadim M Govorun, Peter J Houweling, Takashi Kawahara, Elena S Kostryukova, Nickolay A Kulemin, Andrey K Larin, Agnieszka Maciejewska-Karlowska, et al.

Journal article  |  2016  |  PLoS ONE

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

Roula Ghaoui, Johanna Palmio, Janice Brewer, Monkol Lek, Merrilee Needham, Anni Evila, Peter Hackman, Per-Harald Jonson, Sini Penttila, Anna Vihola, Sanna Huovinen, Mikaela Lindfors, Ryan L Davis, Leigh Waddell, Simran Kaur, Con Yiannikas, Kathryn North, Nigel Clarke, Daniel G MacArthur, Carolyn M Sue, et al.

Journal article  |  2016  |  Neurology

The Future of Genomic Research in Athletic Performance and Adaptation to Training

Guan Wang, Masashi Tanaka, Nir Eynon, Kathryn N North, Alun G Williams, Malcolm Collins, Colin N Moran, Steven L Britton, Noriyuki Fuku, Euan A Ashley, Vassilis Klissouras, Alejandro Lucia, Ildus I Ahmetov, Eco de Geus, Mohammed Alsayrafi, Yannis P Pitsiladis

Journal article  |  2016  |  Medicine and Sport Science

The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults

Hilda A Crawford, Belinda Barton, Meredith J Wilson, Yemima Berman, Valerie J McKelvey-Martin, Patrick J Morrison, Kathryn N North

Journal article  |  2015  |  Journal of Genetic Counseling

Associate Professor Nigel Clarke PhD, MBChB, FRACP (1966-2015)

Nigel Laing, Kathryn North

Journal article  |  2015  |  Neuromuscular Disorders

Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement

Nick Webborn, Alun Williams, Mike McNamee, Claude Bouchard, Yannis Pitsiladis, Ildus Ahmetov, Euan Ashley, Nuala Byrne, Silvia Camporesi, Malcolm Collins, Paul Dijkstra, Nir Eynon, Noriyuki Fuku, Fleur C Garton, Nils Hoppe, Soren Holm, Jane Kaye, Vassilis Klissouras, Alejandro Lucia, Kamiel Maase, et al.

Journal article  |  2015  |  British Journal of Sports Medicine

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy Outcomes and Lessons Learned

Roula Ghaoui, Sandra T Cooper, Monkol Lek, Kristi Jones, Alastair Corbett, StephenW Reddel, Merrilee Needham, Christina Liang, Leigh B Waddell, Garth Nicholson, Gina O'Grady, Simranpreet Kaur, Royston Ong, Mark Davis, Carolyn M Sue, Nigel G Laing, Kathryn N North, Daniel G MacArthur, Nigel F Clarke

Journal article  |  2015  |  JAMA Neurology

Muscle weakness in TPM3-myopathy is due to reduced Ca2 -sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres

Michaela Yuen, Sandra T Cooper, Steve B Marston, Kristen J Nowak, Elyshia McNamara, Nancy Mokbel, Biljana Ilkovski, Gianina Ravenscroft, John Rendu, Josine M de Winter, Lars Klinge, Alan H Beggs, Kathryn N North, Coen AC Ottenheijm, Nigel F Clarke

Journal article  |  2015  |  Human Molecular Genetics

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

Alexander M Rossor, Emily C Oates, Hannah K Salter, Yang Liu, Sinead M Murphy, Rebecca Schule, Michael A Gonzales, Mariacristina Scoto, Rahul Phadke, Caroline A Sewry, Henry Houlden, Albena Jordanova, Iyailo Tournev, Teodora Chamova, Ivan Litvinenko, Stephan Zuchner, David N Herrmann, Julian Blake, Janet E Sowden, Gyuda Acsadi, et al.

Journal article  |  2015  |  Brain

All the World's a Stage: Facilitating Discovery Science and Improved Cancer Care through the Global Alliance for Genomics and Health

Mark Lawler, Lillian L Siu, Heidi L Rehm, Stephen J Chanock, Gil Alterovitz, John Burn, Fabien Calvo, Denis Lacombe, Bin Tean Teh, Kathryn N North, Charles L Sawyers

Journal article  |  2015  |  Cancer Discovery

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

Biljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, Taroh Kinoshita, Malcolm F Howard, Monkol Lek, Brett Thomas, Anne Turner, John Christodoulou, David Sillence, Samantha JL Knight, Niko Popitsch, David A Keays, Consuelo Anzilotti, Anne Goriely, Leigh B Waddell, Fabienne Brilot, Kathryn N North, Noriyuki Kanzawa, Daniel G Macarthur, et al.

Journal article  |  2015  |  Human Molecular Genetics

Author response.

Peter B Kang, Leslie Morrison, Susan T Iannaccone, Robert J Graham, Carsten G Bönnemann, Anne Rutkowski, Joseph Hornyak, Ching H Wang, Corpus Christi, Kathryn North

Journal article  |  2015  |  Neurology

A gene for speed: The influence of ACTN3 on muscle performance in health and disease

P Houweling, J Seto, F Garton, K Quinlan, S Head, K North

Conference Proceedings  |  2015  |  Neuromuscular Disorders

Mutated HSPB8 causes both neurogenic and myopathic disease with muscle proteinopathy

M Lindfors, R Ghaoui, S Penttila, J Palmio, M Needham, K North, N Clarke, C Sue, P Jonson, A Vihola, B Udd

Conference Proceedings  |  2015  |  Neuromuscular Disorders

LMOD3: the "missing link" in nemaline myopathy?

Sarah A Sandaradura, Kathryn N North

Journal article  |  2015  |  Oncotarget

Muscle weakness in children with neurofibromatosis type 1

Kayla MD Cornett, Kathryn N North, Kristy J Rose, Joshua Burns

Journal article  |  2015  |  Developmental Medicine and Child Neurology

Skeletal muscle and motor deficits in Neurofibromatosis Type 1

MA Summers, KG Quinlan, JM Payne, DG Little, KN North, A Schindeler

Journal article  |  2015  |  Journal of Musculoskeletal Neuronal Interactions

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

Gina L O'Grady, Heather A Best, Emily C Oates, Simranpreet Kaur, Amanda Charlton, Susan Brammah, Jaya Punetha, Akanchha Kesari, Kathryn N North, Biljana Ilkovski, Eric P Hoffman, Nigel F Clarke

Journal article  |  2015  |  European Journal of Human Genetics

Expanding the phenotype of GMPPB mutations

Macarena Cabrera-Serrano, Roula Ghaoui, Gianina Ravenscroft, Russell D Johnsen, Mark R Davis, Alastair Corbett, Stephen Reddel, Carolyn M Sue, Christina Liang, Leigh B Waddell, Simranpreet Kaur, Monkol Lek, Kathryn N North, Daniel G MacArthur, Phillipa J Lamont, Nigel F Clarke, Nigel G Laing

Journal article  |  2015  |  Brain

Developmental Trajectories of Young Children with Neurofibromatosis Type 1: A Longitudinal Study from 21 to 40 Months of Age

Jennifer Lorenzo, Belinda Barton, Shelley S Arnold, Kathryn N North

Journal article  |  2015  |  Journal of Pediatrics

Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine

Peter B Kang, Leslie Morrison, Susan T Iannaccone, Robert J Graham, Carsten G Boennemann, Anne Rutkowski, Joseph Hornyak, Ching H Wang, Kathryn North, Maryam Oskoui, Thomas SD Getchius, Julie A Cox, Erin E Hagen, Gary Gronseth, Robert C Griggs

Journal article  |  2015  |  Neurology

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Alexander M Rossor, Emily C Oates, Hannah K Salter, Yang Liu, Sinead M Murphy, Rebecca Schule, Michael A Gonzalez, Mariacristina Scoto, Rahul Phadke, Caroline A Sewry, Henry Houlden, Albena Jordanova, Iyailo Tournev, Teodora Chamova, Ivan Litvinenko, Stephan Zuchner, David N Herrmann, Julian Blake, Janet E Sowden, Gyuda Acsadi, et al.

Journal article  |  2015  |  Brain

Congenital and Other Structural Myopathies

JJ Dowling, KN North, HH Goebel, AH Beggs

Book Chapter  |  2015

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy (vol 124, pg 4693, 2014)

Michaela Yuen, Sarah A Sandaradura, James J Dowling, Alla S Kostyukova, Natalia Moroz, Kate G Quinlan, Vilma-Lotta Lehtokari, Gianina Ravenscroft, Emily J Todd, Ozge Ceyhan-Birsoy, David S Gokhin, Jerome Maluenda, Monkol Lek, Flora Nolent, Christopher T Pappas, Stefanie M Novak, Adele D'Amico, Edoardo Malfatti, Brett P Thomas, Stacey B Gabriel, et al.

Journal article  |  2015  |  Journal of Clinical Investigation

Altered Ca2 Kinetics Associated with alpha-Actinin-3 Deficiency May Explain Positive Selection for ACTN3 Null Allele in Human Evolution

Stewart I Head, Stephen Chan, Peter J Houweling, Kate GR Quinlan, Robyn Murphy, Soeren Wagner, Oliver Friedrich, Kathryn N North

Journal article  |  2015  |  PLoS Genetics

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies

Katherine G Meilleur, Minal S Jain, Linda S Hynan, Ching-Yi Shieh, Eunice Kim, Melissa Waite, Michelle McGuire, Courtney Fiorini, Allan M Glanzman, Marion Main, Kristy Rose, Tina Duong, Roxanna Bendixen, Melody M Linton, Irene C Arveson, Carmel Nichols, Kelly Yang, Kenneth H Fischbeck, Kathryn R Wagner, Kathryn North, et al.

Journal article  |  2015  |  Neuromuscular Disorders

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Vilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A Sandaradura, Jocelyn Laporte, Pauliina Repo, Jennifer A Frey, Kati Donner, Minttu Marttila, Carol Saunders, Peter G Barth, Johan T den Dunnen, Alan H Beggs, Nigel F Clarke, Kathryn N North, Nigel G Laing, Norma B Romero, Thomas L Winder, Katarina Pelin, Carina Wallgren-Pettersson

Journal article  |  2014  |  Human Mutation

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Michaele Yuen, Sarah A Sandaradura, James J Dowling, Alla S Kostyukova, Natalia Moroz, Kate G Quinlan, Vilma-Lotta Lehtokari, Gianina Ravenscroft, Emily J Todd, Ozge Ceyhan-Birsoy, David S Gokhin, Jerome Maluenda, Monkol Lek, Flora Nolent, Christopher T Pappas, Stefanie M Novak, Adele D'Amico, Edoardo Malfatti, Brett P Thomas, Stacey B Gabriel, et al.

Journal article  |  2014  |  Journal of Clinical Investigation

ATALUREN TREATMENT OF PATIENTS WITH NONSENSE MUTATION DYSTROPHINOPATHY

Katharine Bushby, Richard Finkel, Brenda Wong, Richard Barohn, Craig Campbell, Giacomo P Comi, Anne M Connolly, John W Day, Kevin M Flanigan, Nathalie Goemans, Kristi J Jones, Eugenio Mercuri, Ros Quinlivan, James B Renfroe, Barry Russman, Monique M Ryan, Mar Tulinius, Thomas Voit, Steven A Moore, H Lee Sweeney, et al.

Journal article  |  2014  |  Muscle & Nerve

Diagnosing the limb-girdle muscular dystrophies using whole exome sequencing: An Australian cohort

R Ghaoui, A Corbett, M Needham, M Farrar, H Sampaio, D Mowat, S Rajagopalan, C Liang, S Kaur, L Waddell, K Daly, BP Thomas, M Lek, MJ Daly, KN North, DG MacArthur, CM Sue, NF Clarke

Conference Proceedings  |  2014  |  Neuromuscular Disorders

Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscle

M Kreissl, SA Sandaradura, JJ Dowling, AS Kostyukova, N Moroz, KG Quinlan, V Lehtokari, G Ravenscroft, EJ Todd, O Ceyhan-Birsoy, DS Gokhin, J Maluenda, M Lek, F Nolent, CT Pappas, SM Novak, A D'Amico, E Malfatti, BP Thomas, SB Gabriel, et al.

Conference Proceedings  |  2014  |  Neuromuscular Disorders

Analysis of a large patient cohort with recessive truncating TTN mutations reveals novel clinical features and a diverse range of muscle pathologies

EC Oates, KS Yau, A Charlton, S Brammah, MA Farrar, H Sampaio, PL Lamont, D Mowat, RB Fitzsimons, A Corbett, MM Ryan, HL Teoh, GL O'Grady, R Ghaoui, S Kaur, M Lek, KN North, DG MacArthur, MR Davis, NG Laing, et al.

Conference Proceedings  |  2014  |  Neuromuscular Disorders

Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair

GMI Redpath, N Woolger, AK Piper, FA Lemckert, A Lek, PA Greer, KN North, ST Cooper

Journal article  |  2014  |  Molecular Biology of the Cell

Activating internal ribosome entry to treat Duchenne muscular dystrophy

Shireen R Lamande, Kathryn N North

Journal article  |  2014  |  Nat Med

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

Minttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, Tuula A Nyman, Christine Barnerias, Alan H Beggs, Enrico Bertini, Oezge Ceyhan-Birsoy, Pascal Cintas, Marion Gerard, Brigitte Gilbert-Dussardier, Jacob S Hogue, Cheryl Longman, Bruno Eymard, Moshe Frydman, Peter B Kang, Lars Klinge, Hanna Kolski, Hans Lochmueller, Laurent Magy, et al.

Journal article  |  2014  |  Human Mutation

The genetic and neuroanatomical basis of social dysfunction: Lessons from neurofibromatosis type 1

Natalie A Pride, Mayuresh S Korgaonkar, Belinda Barton, Jonathan M Payne, Steve Vucic, Kathryn N North

Journal article  |  2014  |  Human Brain Mapping

Relationship between cognitive dysfunction, gait, and motor impairment in children and adolescents with neurofibromatosis type 1

Joel A Champion, Kristy J Rose, Jonathan M Payne, Joshua Burns, Kathryn N North

Journal article  |  2014  |  Developmental Medicine and Child Neurology

alpha-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization

FC Garton, JT Seto, KGR Quinlan, N Yang, PJ Houweling, KN North

Journal article  |  2014  |  Human Molecular Genetics

Diagnostic approach to the congenital muscular dystrophies

Carsten G Boennemann, Ching H Wang, Susana Quijano-Roy, Nicolas Deconinck, Enrico Bertini, Ana Ferreiro, Francesco Muntoni, Caroline Sewry, Christophe Beroud, Katherine D Mathews, Steven A Moore, Jonathan Bellini, Anne Rutkowski, Kathryn N North

Journal article  |  2014  |  Neuromuscular Disorders

Sequence analysis of the equine ACTN3 gene in Australian horse breeds

KC Thomas, NA Hamilton, KN North, PJ Houweling

Journal article  |  2014  |  Gene

CTF Meeting 2012: Translation of the Basic Understanding of the Biology and Genetics of NF1, NF2, and Schwannomatosis Toward the Development of Effective Therapies

Brigitte C Widemann, Maria T Acosta, Sylvia Ammoun, Allan J Belzberg, Andre Bernards, Jaishri Blakeley, Antony Bretscher, Karen Cichowski, D Wade Clapp, Eva Dombi, Gareth D Evans, Rosalie Ferner, Cristina Fernandez-Valle, Michael J Fisher, Marco Giovannini, David H Gutmann, C Oliver Hanemann, Robert Hennigan, Susan Huson, David Ingram, et al.

Journal article  |  2014  |  American Journal of Medical Genetics, Part A

Longitudinal Assessment of Cognition and T2-Hyperintensities in NF1: An 18-Year Study

Jonathan M Payne, Tania Pickering, Melanie Porter, Emily C Oates, Navdeep Walia, Kristina Prelog, Kathryn N North

Journal article  |  2014  |  American Journal of Medical Genetics, Part A

NF1 is a critical regulator of muscle development and metabolism

Kate Sullivan, Jad El-Hoss, Kate GR Quinlan, Nikita Deo, Fleur Garton, Jane TC Seto, Marie Gdalevitch, Nigel Turner, Gregory J Cooney, Mateusz Kolanczyk, Kathryn N North, David G Little, Aaron Schindeler

Journal article  |  2014  |  Human Molecular Genetics

Evidence Based Selection of Commonly Used RT-qPCR Reference Genes for the Analysis of Mouse Skeletal Muscle

Kristen C Thomas, Xi Fiona Zheng, Francia Garces Suarez, Joanna M Raftery, Kate GR Quinlan, Nan Yang, Kathryn N North, Peter J Houweling

Journal article  |  2014  |  PLoS One

Approach to the diagnosis of congenital myopathies

Kathryn N North, Ching H Wang, Nigel Clarke, Heinz Jungbluth, Mariz Vainzof, James J Dowling, Kimberly Amburgey, Susana Quijano-Roy, Alan H Beggs, Caroline Sewry, Nigel G Laing, Carsten G Boennemann

Journal article  |  2014  |  Neuromuscular Disorders

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Vandana A Gupta, Gianina Ravenscroft, Ranad Shaheen, Emily J Todd, Lindsay C Swanson, Masaaki Shiina, Kazuhiro Ogata, Cynthia Hsu, Nigel F Clarke, Basil T Darras, Michelle A Farrar, Amal Hashem, Nicholas D Manton, Francesco Muntoni, Kathryn N North, Sarah A Sandaradura, Ichizo Nishino, Yukiko K Hayashi, Caroline A Sewry, Elizabeth M Thompson, et al.

Journal article  |  2013  |  American Journal of Human Genetics

Natural history of pulmonary function in collagen VI-related myopathies

A Reghan Foley, Susana Quijano-Roy, James Collins, Volker Straub, Michelle McCallum, Nicolas Deconinck, Eugenio Mercuri, Marika Pane, Adele D'Amico, Enrico Bertini, Kathryn North, Monique M Ryan, Pascale Richard, Valerie Allamand, Debbie Hicks, Shireen Lamande, Ying Hu, Francesca Gualandi, Sungyoung Auh, Francesco Muntoni, et al.

Journal article  |  2013  |  Brain

Cognition and behaviour in neurofibromatosis type 1: Pathogenesis and emerging therapies

JM Payne, NA Pride, KN North

Book Chapter  |  2013

This chapter provides an overview of the neurocognitive, behavioral and developmental aspects of the neurofibromatosis type 1 (NF1..

Cognitive Features that Distinguish Preschool-Age Children with Neurofibromatosis Type 1 from Their Peers: A Matched Case-Control Study

Jennifer Lorenzo, Belinda Barton, Shelley S Arnold, Kathryn N North

Journal article  |  2013  |  Journal of Pediatrics

Systematic identification of causal mutations in Mendelian disorders using exome sequence data

M Lek, NF Clarke, L Waddell, B Thomas, M DePristo, MJ Daly, KN North, DG MacArthur

Conference Proceedings  |  2013  |  Neuromuscular Disorders

Next-generation sequencing meets genetic diagnostics: Development of a comprehensive workflow for neuromuscular disorders

A Kesari, J Punetha, P Uapinyoying, N Clarke, L Waddell, K North, P Plotz, C Tesi-Rocha, C Bonnemann, C Grosmann, T Bertorini, E Hoffman

Conference Proceedings  |  2013  |  Neuromuscular Disorders

ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling

Jane T Seto, Kate GR Quinlan, Monkol Lek, Xi Fiona Zheng, Fleur Garton, Daniel G MacArthur, Marshall W Hogarth, Peter J Houweling, Paul Gregorevic, Nigel Turner, Gregory J Cooney, Nan Yang, Kathryn N North

Journal article  |  2013  |  Journal of Clinical Investigation

Mutations in a new dynein/dynactin adaptor gene cause Dominant Congenital Spinal Muscular Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP)

EC Oates, AM Rosser, M Hafezparast, M Lek, M Scoto, L Greensmith, M Auer-Grumbach, R Schule, DN Herrmann, NF Clarke, DG MacArthur, S Zuechner, F Muntoni, MM Reilly, KN North

Conference Proceedings  |  2013  |  Neuromuscular Disorders

Social functioning in adults with neurofibromatosis type 1

Natalie A Pride, Hilda Crawford, Jonathan M Payne, Kathryn N North

Journal article  |  2013  |  Research in Developmental Disabilities

Mutation screening of a large cohort of nemaline myopathy

YK Hayashi, K Goto, S Noguchi, N Matsumoto, N Laing, K North, N Clark, I Nonaka, I Nishino

Conference Proceedings  |  2013  |  Neuromuscular Disorders

Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way

Nir Eynon, Erik D Hanson, Alejandro Lucia, Peter J Houweling, Fleur Garton, Kathryn N North, David J Bishop

Journal article  |  2013  |  Sports Medicine

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of alpha-Dystroglycan

Keren J Carss, Elizabeth Stevens, A Reghan Foley, Sebahattin Cirak, Moniek Riemersma, Silvia Torelli, Alexander Hoischen, Tobias Willer, Monique van Scherpenzeel, Steven A Moore, Sonia Messina, Enrico Bertini, Carsten G Boennemann, Jose E Abdenur, Carla M Grosmann, Akanchha Kesari, Jaya Punetha, Ros Quinlivan, Leigh B Waddell, Helen K Young, et al.

Journal article  |  2013  |  American Journal of Human Genetics

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Gianina Ravenscroft, Satoko Miyatake, Vilma-Lotta Lehtokari, Emily J Todd, Pauliina Vomauen, Kyle S Yau, Yukiko K Hayashi, Noriko Miyake, Yoshinori Tsurusaki, Hiroshi Doi, Hirotomo Saitsu, Hitoshi Osaka, Sumimasa Yamashita, Takashi Ohya, Yuko Sakamoto, Eriko Koshimizu, Shintaro Imamura, Michiaki Yamashita, Kazuhiro Ogata, Masaaki Shiina, et al.

Journal article  |  2013  |  American Journal of Human Genetics

The Cooperative International Neuromuscular Research Group Duchenne Natural History Study-A Longitudinal Investigation In The Era Of Glucocorticoid Therapy: Design Of Protocol And The Methods Used

CM McDonald, EK Henricson, RT Abresch, JJ Han, DM Escolar, JM Florence, T Duong, A Arrieta, PR Clemens, EP Hoffman, A Cnaan, V Vishwanathan, S Chidambaranathan, WD Biggar, JK Mah, M Tulinius, R Leshner, C Tesi-Rocha, A Korn-berg, M Ryan, et al.

Journal article  |  2013  |  Muscle & Nerve

The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures

EK Henricson, RT Abresch, A Cnaan, F Hu, T Duong, A Arrieta, J Han, DM Escolar, JM Florence, PR Clemens, EP Hoffman, CM McDonald, V Vishwanathan, S Chidambaranathan, WD Biggar, JK Mah, M Tulinius, R Leshner, C Tesi-Rocha, A Kornberg, et al.

Journal article  |  2013  |  Muscle & Nerve

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

Emily C Oates, Alexander M Rossor, Majid Hafezparast, Michael Gonzalez, Fiorella Speziani, Daniel G MacArthur, Monkol Lek, Ellen Cottenie, Mariacristina Scoto, A Reghan Foley, Matthew Hurles, Henry Houlden, Linda Greensmith, Michaela Auer-Grumbach, Thomas R Pieber, Tim M Strom, Rebecca Schule, David N Herrmann, Janet E Sowden, Gyula Acsadi, et al.

Journal article  |  2013  |  American Journal of Human Genetics

A WINDOW INTO MOTOR NEURON DEVELOPMENT: WHOLE EXOME SEQUENCING OF DOMINANT CONGENITAL SPINAL MUSCULAR ATROPHY (DCSMA)

AM Rossor, EC Oates, M Hafezparast, E Cottenie, H Houlden, M Scoto, R Foley, N Clark, DN Hermann, Auer M Grumbach, S Zuchner, F Muntoni, K North, MM Reilly

Conference Proceedings  |  2013  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Association Analysis of ACE and ACTN3 in Elite Caucasian and East Asian Swimmers

Guan Wang, Eri Mikami, Li-Ling Chiu, Alessandra De Perini, Michael Deason, Noriyuki Fuku, Motohiko Miyachi, Koji Kaneoka, Haruka Murakami, Masashi Tanaka, Ling-Ling Hsieh, Sandy S Hsieh, Daniela Caporossi, Fabio Pigozzi, Alan Hilley, Rob Lee, Stuart DR Galloway, Jason Gulbin, Viktor A Rogozkin, Ildus I Ahmetov, et al.

Journal article  |  2013  |  Medicine and Science in Sports and Exercise

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

Nigel F Clarke, Kimberly Amburgey, James Teener, Sandra Camelo-Piragua, Akanchha Kesari, Jaya Punetha, Leigh B Waddell, Mark Davis, Nigel G Laing, Nicole Monnier, Kathryn N North, Eric P Hoffman, James J Dowling

Journal article  |  2013  |  Neuromuscular Disorders

Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge

Emily C Oates, Jonathan M Payne, Sheryl L Foster, Nigel F Clarke, Kathryn N North

Journal article  |  2013  |  American Journal of Medical Genetics, Part A

Calpains, Cleaved Mini-Dysferlin(C72), and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair

Angela Lek, Frances J Evesson, Frances A Lemckert, Gregory MI Redpath, Ann-Katrin Lueders, Lynne Turnbull, Cynthia B Whitchurch, Kathryn N North, Sandra T Cooper

Journal article  |  2013  |  Journal of Neuroscience

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

Nancy Mokbel, Biljana Ilkovski, Michaela Kreissl, Massimiliano Memo, Cy M Jeffries, Minttu Marttila, Vilma-Lotta Lehtokari, Elina Lemola, Mikaela Gronholm, Nan Yang, Dominique Menard, Pascale Marcorelles, Andoni Echaniz-Laguna, Jens Reimann, Mariz Vainzof, Nicole Monnier, Gianina Ravenscroft, Elyshia McNamara, Kristen J Nowak, Nigel G Laing, et al.

Journal article  |  2013  |  Brain

ACTN3 Allele Frequency in Humans Covaries with Global Latitudinal Gradient

Scott M Friedlander, Amanda L Herrmann, Daniel P Lowry, Emily R Mepham, Monkol Lek, Kathryn N North, Chris L Organ

Journal article  |  2013  |  PLoS ONE

Paired associate learning in children with neurofibromatosis type 1: implications for clinical trials

Jonathan M Payne, Belinda Barton, E Arthur Shores, Kathryn N North

Journal article  |  2013  |  Journal of Neurology

Treatment for plexiform neurofibromas in patients with NF1

Simone L Ardern-Holmes, Kathryn N North

Journal article  |  2012  |  The Lancet Oncology

Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas

KJ Johnson, MJ Fisher, RL Listernick, KN North, EK Schorry, D Viskochil, M Weinstein, JB Rubin, DH Gutmann

Journal article  |  2012  |  Familial Cancer

Mutations in TPM2 and congenital fibre type disproportion

Nigel F Clarke, Leigh B Waddell, Lilian TL Sie, Bregje WM van Bon, Catriona McLean, Damian Clark, Andrew Kornberg, Martin Lammens, Kathryn N North

Journal article  |  2012  |  Neuromuscular Disorders

ACTN3 genotype influences skeletal muscle performance through alterations in calcineurin signaling

KGR Quinlan, JTC Seto, M Lek, FX Zheng, F Garton, PJ Houweling, KN North

Conference Proceedings  |  2012  |  Neuromuscular Disorders

Clinical outcome measures in Collagen 6 (COL6) and Laminin alpha 2(LAMA2) related congenital muscular dystrophy

KG Meilleur, M Jain, E Kim, L Hynan, CY Shieh, M Waite, T Duong, A Glanzman, M Main, K Rose, M McGuire, R Bendixen, R Foley, S Donkervoort, A Schindler, A Kokkinis, EJ Hartnett, M Leach, J Dastgir, K North, et al.

Conference Proceedings  |  2012  |  Neuromuscular Disorders

Does attention-deficit-hyperactivity disorder exacerbate executive dysfunction in children with neurofibromatosis type 1?

Jonathan M Payne, Shelley S Arnold, Natalie A Pride, Kathryn N North

Journal article  |  2012  |  Developmental Medicine and Child Neurology

Transition and outcomes for young men with Duchenne muscular dystrophy in New South Wales

N Geevasinga, H Young, N Clarke, K North, K Sank, C Tanner, M Needham

Conference Proceedings  |  2012  |  Neuromuscular Disorders

Clinical utility gene card for: Centronuclear and myotubular myopathies

Valerie Biancalana, Alan H Beggs, Soma Das, Heinz Jungbluth, Wolfram Kress, Ichizo Nishino, Kathryn North, Norma B Romero, Jocelyn Laporte

Journal article  |  2012  |  European Journal of Human Genetics

The Learning Disabilities Network (LeaDNet): Using Neurofibromatosis Type 1 (NF1) as a Paradigm for Translational Research

Maria T Acosta, Carrie E Bearden, Xavier F Castellanos, Laurie Cutting, Ype Elgersma, Gerard Gioia, David H Gutmann, Yong-Seok Lee, Eric Legius, Maximillian Muenke, Kathryn North, Luis F Parada, Nancy Ratner, Kim Hunter-Schaedle, Alcino J Silva

Journal article  |  2012  |  American Journal of Medical Genetics, Part A

The cognitive profile of NF1 children: Therapeutic implications

NA Pride, KN North

Book Chapter  |  2012

Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells

Emily C Oates, Stephen Reddel, Michael L Rodriguez, Luke C Gandolfo, Melanie Bahlo, Simon H Hawke, Shireen R Lamande, Nigel F Clarke, Kathryn N North

Journal article  |  2012  |  Brain

Inherited neuromuscular disorders: Pathway to diagnosis

Manoj P Menezes, Kathryn N North

Journal article  |  2012  |  Journal of Paediatrics and Child Health

Sniff nasal inspiratory pressure and sleep disordered breathing in childhood neuromuscular disorders

Vincent B Anderson, Jennifer A McKenzie, Chris Seton, Dominic A Fitzgerald, Richard I Webster, Kathryn N North, David A Joffe, Helen K Young

Journal article  |  2012  |  Neuromuscular Disorders

The Association Between An Indel Polymorphism In The Alp Gene And Athletic Performance

Guilherme G Artioli, Nan Yang, Peter J Houweling, Monkol Lek, Fiona Zheng, Antonio H Lancha, Kathryn N North

Conference Proceedings  |  2012  |  MEDICINE AND SCIENCE IN SPORTS AND EXERCISE

Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy

MP Menezes, LB Waddell, FJ Evesson, S Cooper, R Webster, K Jones, D Mowat, MC Kiernan, HM Johnston, A Corbett, M Harbord, KN North, NF Clarke

Journal article  |  2012  |  Neurology

Consensus Statement on Standard of Care for Congenital Myopathies

Ching H Wang, James J Dowling, Kathryn North, Mary K Schroth, Thomas Sejersen, Frederic Shapiro, Jonathan Bellini, Hali Weiss, Marc Guillet, Kimberly Amburgey, Susan Apkon, Enrico Bertini, Carsten Bonnemann, Nigel Clarke, Anne M Connolly, Brigitte Estournet-Mathiaud, Dominic Fitzgerald, Julaine M Florence, Richard Gee, Juliana Gurgel-Giannetti, et al.

Journal article  |  2012  |  Journal of Child Neurology

Neurofibromatosis 2011: a report of the Children's Tumor Foundation annual meeting.

Michel Kalamarides, Maria T Acosta, Dusica Babovic-Vuksanovic, Olli Carpen, Karen Cichowski, D Gareth Evans, Filippo Giancotti, C Oliver Hanemann, David Ingram, Alison C Lloyd, Debra A Mayes, Ludwine Messiaen, Helen Morrison, Kathryn North, Roger Packer, Duojia Pan, Anat Stemmer-Rachamimov, Meena Upadhyaya, David Viskochil, Margret R Wallace, et al.

Journal article  |  2012  |  Acta Neuropathologica

The 2011 annual meeting of the Children's Tumor Foundation, the annual gathering of the neurofibromatosis (NF) research and clinic..

Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair

Angela Lek, Frances J Evesson, R Bryan Sutton, Kathryn N North, Sandra T Cooper

Journal article  |  2012  |  Traffic

A procedure for the computerized analysis of cleft palate speech transcription

David A Fitzsimons, David L Jones, Belinda Barton, Kathryn N North

Journal article  |  2012  |  Clinical Linguistics and Phonetics

The Impact of ADHD on the Cognitive and Academic Functioning of Children With NF1

Natalie A Pride, Jonathan M Payne, Kathryn N North

Journal article  |  2012  |  Developmental Neuropsychology

Therapeutics for Childhood Neurofibromatosis Type 1 and Type 2

Simone L Ardern-Holmes, Kathryn N North

Journal article  |  2011  |  Current Treatment Options in Neurology

Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy

Mai-Anh T Nguyen, Josephine E Joya, Anthony J Kee, Ana Domazetovska, Nan Yang, Jeff W Hook, Frances A Lemckert, Emma Kettle, Valentina A Valova, Philip J Robinson, Kathryn N North, Peter W Gunning, Christina A Mitchell, Edna C Hardeman

Journal article  |  2011  |  Brain

Fetal akinesia: review of the genetics of the neuromuscular causes

Gianina Ravenscroft, Elliot Sollis, Adrian K Charles, Kathryn N North, Gareth Baynam, Nigel G Laing

Journal article  |  2011  |  Journal of Medical Genetics

Clinical Approach to the Diagnosis of Congenital Myopathies

Kathryn N North

Journal article  |  2011  |  Seminars in Pediatric Neurology

Mild Functional Differences of Dynamin 2 Mutations Associated to Centronuclear Myopathy and Charcot-Marie-Tooth Peripheral Neuropathy

Olga S Koutsopoulos, Catherine Koch, Valerie Tosch, Johann Boehm, Kathryn N North, Jocelyn Laporte

Journal article  |  2011  |  PLoS ONE

A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients

Leigh B Waddell, Jenny Tran, Xi F Zheng, Carsten G Boennemann, Ying Hu, Frances J Evesson, Monkol Lek, Susan Arbuckle, Min-Xia Wang, Robert L Smith, Kathryn N North, Nigel F Clarke

Journal article  |  2011  |  Neuromuscular Disorders

Childhood mitochondrial neuropathies: Clinical, electrophysiological and histopathological characteristics

MP Menezes, MM Ryan, D Thorburn, JC Christodoulou, KN North, RA Ouvrier

Conference Proceedings  |  2011  |  Neuromuscular Disorders

The identification of a viable outcome measure in the collagen VI myopathies promotes progress toward clinical trials

AR Foley, S Quijano-Roy, J Collins, V Straub, N Deconinck, E Mercuri, A D'Amico, E Bertini, K North, M Ryan, C Rummey, T Meier, T Cole, F Muntoni, C Boennemann

Conference Proceedings  |  2011  |  Neuromuscular Disorders

The molecular genetics of monogenic neuromuscular disorders characterised by reduced foetal movement

G Ravenscroft, E Sollis, AK Charles, VA Fabian, KN North, G Baynam, NG Laing

Conference Proceedings  |  2011  |  Neuromuscular Disorders

alpha-Actinin-3 deficiency is associated with reduced bone mass in human and mouse

Nan Yang, Aaron Schindeler, Michelle M McDonald, Jane T Seto, Peter J Houweling, Monkol Lek, Marshall Hogarth, Alyson R Morse, Joanna M Raftery, Dominic Balasuriya, Daniel G MacArthur, Yemima Berman, Kate GR Quinlan, John A Eisman, Tuan V Nguyen, Jacqueline R Center, Richard L Prince, Scott G Wilson, Kathy Zhu, David G Little, et al.

Journal article  |  2011  |  Bone

Health status of boys with Duchenne muscular dystrophy: A parent's perspective

Paula Bray, Anita C Bundy, Monique M Ryan, Kathryn N North, Joshua Burns

Journal article  |  2011  |  Journal of Paediatrics and Child Health

Deficiency of alpha-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling

Jane T Seto, Monkol Lek, Kate GR Quinlan, Peter J Houweling, Xi F Zheng, Fleur Garton, Daniel G MacArthur, Joanna M Raftery, Sean M Garvey, Michael A Hauser, Nan Yang, Stewart I Head, Kathryn N North

Journal article  |  2011  |  Human Molecular Genetics

Loss of IL-15 receptor alpha alters the endurance, fatigability, and metabolic characteristics of mouse fast skeletal muscles

Emidio E Pistilli, Sasha Bogdanovich, Fleur Garton, Nan Yang, Jason P Gulbin, Jennifer D Conner, Barbara G Anderson, LeBris S Quinn, Kathryn North, Rexford S Ahima, Tejvir S Khurana

Journal article  |  2011  |  Journal of Clinical Investigation

USING COMPLEMENTARY DNA FROM MyoD-TRANSDUCED FIBROBLASTS TO SEQUENCE LARGE MUSCLE GENES

Leigh B Waddell, Nicole Monnier, Sandra T Cooper, Kathryn N North, Nigel F Clarke

Journal article  |  2011  |  Muscle and Nerve

EPIDERMOLYSIS BULLOSA WITH LATE-ONSET MUSCULAR DYSTROPHY AND PLECTIN DEFICIENCY

Eppie M Yiu, Alfred Klausegger, Leigh B Waddell, Nikolaus Grasern, Lyn Lloyd, Kim Tran, Kathryn N North, Johann W Bauer, Penelope Mckelvie, CW Chow, Monique M Ryan, Dedee F Murrell

Journal article  |  2011  |  Muscle & Nerve

The effect of alpha-actinin-3 deficiency on muscle aging

Jane T Seto, Stephen Chan, Nigel Turner, Daniel G MacArthur, Joanna M Raftery, Yemima D Berman, Kate GR Quinlan, Gregory J Cooney, Stewart Head, Nan Yang, Kathryn N North

Journal article  |  2011  |  Experimental Gerontology

Mental, Motor, and Language Development of Toddlers with Neurofibromatosis Type 1

Jennifer Lorenzo, Belinda Barton, Maria T Acosta, Kathryn North

Journal article  |  2011  |  Journal of Pediatrics

Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With Stretch

Leigh B Waddell, Frances A Lemckert, Xi F Zheng, Jenny Tran, Frances J Evesson, Joanne M Hawkes, Angela Lek, Neil E Street, Peihui Lin, Nigel F Clarke, Andrew P Landstrom, Michael J Ackerman, Noah Weisleder, Jianjie Ma, Kathryn N North, Sandra T Cooper

Journal article  |  2011  |  Journal of Neuropathology and Experimental Neurology

Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies

Harriet P Lo, Enrico Bertini, Massimiliano Mirabella, Ana Domazetovska, Russell C Dale, Stefania Petrini, Adele D'Amico, Enza Maria Valente, Rita Barresi, Mark Roberts, Giulia Tozzi, Giorgio Tasca, Sandra T Cooper, Volker Straub, Kathryn N North

Journal article  |  2011  |  Neuromuscular Disorders

Back to the Future: Proceedings From the 2010 NF Conference

Susan M Huson, Maria T Acosta, Allan J Belzberg, Andre Bernards, Jonathan Chernoff, Karen Cichowski, D Gareth Evans, Rosalie E Ferner, Marco Giovannini, Bruce R Korf, Robert Listernick, Kathryn N North, Roger J Packer, Luis F Parada, Juha Peltonen, Vijaya Ramesh, Karlyne M Reilly, John W Risner, Elizabeth K Schorry, Meena Upadhyaya, et al.

Journal article  |  2011  |  American Journal of Medical Genetics, Part A

Increased connective tissue growth factor associated with cardiac fibrosis in the mdx mouse model of dystrophic cardiomyopathy

Carol G Au, Tanya L Butler, Megan C Sherwood, Jonathan R Egan, Kathryn N North, David S Winlaw

Journal article  |  2011  |  International Journal of Experimental Pathology

Altered cellular localization of aquaporin-1 in experimental hydrocephalus in mice and reduced ventriculomegaly in aquaporin-1 deficiency

Dongwei Wang, Marko Nykanen, Nan Yang, David Winlaw, Kathryn North, AS Verkman, Brian Kenneth Owler

Journal article  |  2011  |  Molecular and Cellular Neuroscience

The Cognitive Profile of Preschool-Aged Children with Neurofibromatosis Type 1

Jennifer Sangster, E Arthur Shores, Sharon Watt, Kathryn N North

Journal article  |  2011  |  Child Neuropsychology

PROPERTIES OF EXTENSOR DIGITORUM LONGUS MUSCLE AND SKINNED FIBERS FROM ADULT AND AGED MALE AND FEMALE ACTN3 KNOCKOUT MICE

Stephen Chan, Jane T Seto, Peter J Houweling, Nan Yang, Kathryn N North, Stewart I Head

Journal article  |  2011  |  Muscle and Nerve

Assessment of executive function and attention in children with neurofibromatosis type 1: Relationships between cognitive measures and real-world behavior

Jonathan M Payne, Shelley L Hyman, E Arthur Shores, Kathryn N North

Journal article  |  2011  |  Child Neuropsychology

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

Nyamkhishig Sambuughin, Kyle S Yau, Montse Olive, Rachael M Duff, Munkhuu Bayarsaikhan, Shajia Lu, Laura Gonzalez-Mera, Padma Sivadorai, Kristen J Nowak, Gianina Ravenscroft, Frank L Mastaglia, Kathryn N North, Biljana Ilkovski, Hannie Kremer, Martin Lammens, Baziel GM van Engelen, Vicki Fabian, Phillipa Lamont, Mark R Davis, Nigel G Laing, et al.

Journal article  |  2010  |  American Journal of Human Genetics

The ACTN3 Gene and Human Performance

DG Macarthur, KN North

Book Chapter  |  2010

Collagen VI Microfibril Formation Is Abolished by an alpha 2(VI) von Willebrand Factor Type A Domain Mutation in a Patient with Ullrich Congenital Muscular Dystrophy

Leona D Tooley, Laura K Zamurs, Nicola Beecher, Naomi L Baker, Rachel A Peat, Naomi E Adams, John F Bateman, Kathryn N North, Clair Baldock, Shireen R Lamande

Journal article  |  2010  |  Journal of Biological Chemistry

A new member of the BTB/Kelch family of proteins is mutated in nemaline myopathy type 6 (NEM6)

N Sambuughin, SY Kyle, M Olive, RM Duff, M Bayarsaikhan, P Sivadorai, KJ Nowak, FL Mastaglia, K North, B Ilkovski, B van Engelen, P Lamont, MR Davis, NG Laing, LG Goldfarb

Conference Proceedings  |  2010  |  Neuromuscular Disorders

Health-related Quality of Life in Boys With Duchenne Muscular Dystrophy: Agreement Between Parents and Their Sons

Paula Bray, Anita C Bundy, Monique M Ryan, Kathryn N North, Anna Everett

Journal article  |  2010  |  Journal of Child Neurology

Reduced Plasma Membrane Expression of Dysferlin Mutants Is Attributed to Accelerated Endocytosis via a Syntaxin-4-associated Pathway

Frances J Evesson, Rachel A Peat, Angela Lek, Fabienne Brilot, Harriet P Lo, Russell C Dale, Robert G Parton, Kathryn N North, Sandra T Cooper

Journal article  |  2010  |  Journal of Biological Chemistry

A Gene for Speed: The Emerging Role of alpha-Actinin-3 in Muscle Metabolism

Yemima Berman, Kathryn N North

Journal article  |  2010  |  Physiology

Validation of an automated computational method for skeletal muscle fibre morphometry analysis

Fleur Garton, Jane T Seto, Kathryn N North, Nan Yang

Journal article  |  2010  |  Neuromuscular Disorders

Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins

Angela Lek, Monkol Lek, Kathryn N North, Sandra T Cooper

Journal article  |  2010  |  BMC Evolutionary Biology

Are biological sensors modulated by their structural scaffolds? The role of the structural muscle proteins alpha-actinin-2 and alpha-actinin-3 as modulators of biological sensors

Monkol Lek, Kathryn N North

Journal article  |  2010  |  FEBS Letters

Recessive Mutations in RYR1 Are a Common Cause of Congenital Fiber Type Disproportion

Nigel F Clarke, Leigh B Waddell, Sandra T Cooper, Margaret Perry, Robert LL Smith, Andrew J Kornberg, Francesco Muntoni, Suzanne Lillis, Volker Straub, Kate Bushby, Michela Guglieri, Mary D King, Michael A Farrell, Isabelle Marty, Joel Lunardi, Nicole Monnier, Kathryn N North

Journal article  |  2010  |  Human Mutation

Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3

Leigh B Waddell, Michaela Kreissl, Andrew Kornberg, Paul Kennedy, Catriona McLean, Annick Labarre-Vila, Nicole Monnier, Kathryn N North, Nigel F Clarke

Journal article  |  2010  |  Neuromuscular Disorders

Utility of positron emission tomography for tumour surveillance in children with neurofibromatosis type 1

Mahendranath Moharir, Kevin London, Robert Howman-Giles, Kathryn North

Journal article  |  2010  |  European Journal of Nuclear Medicine and Molecular Imaging

Corpus Callosum Morphology and Its Relationship to Cognitive Function in Neurofibromatosis Type 1

Natalie Pride, Jonathan M Payne, Richard Webster, E Arthur Shores, Caroline Rae, Kathryn N North

Journal article  |  2010  |  Journal of Child Neurology

In Vitro Analysis of Rod Composition and Actin Dynamics in Inherited Myopathies

Aurelie Vandebrouck, Ana Domazetovska, Nancy Mokbel, Sandra T Cooper, Biljana Ilkovski, Kathryn N North

Journal article  |  2010  |  Journal of Neuropathology and Experimental Neurology

Phylogenetic Analysis of Gene Structure and Alternative Splicing in alpha-Actinins

Monkol Lek, Daniel G MacArthur, Nan Yang, Kathryn N North

Journal article  |  2010  |  Molecular Biology and Evolution

alpha-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle

Kate GR Quinlan, Jane T Seto, Nigel Turner, Aurelie Vandebrouck, Matthias Floetenmeyer, Daniel G Macarthur, Joanna M Raftery, Monkol Lek, Nan Yang, Robert G Parton, Gregory J Cooney, Kathryn N North

Journal article  |  2010  |  Human Molecular Genetics

Factors Associated With Foot and Ankle Strength in Healthy Preschool-Age Children and Age-Matched Cases of Charcot-Marie-Tooth Disease Type IA

Kristy J Rose, Joshua Burns, Kathryn N North

Journal article  |  2010  |  Journal of Child Neurology

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

Rachel D Susman, Susana Quijano-Roy, Nan Yang, Richard Webster, Nigel F Clarke, Jim Dowling, Marina Ennerson, Garth Nicholson, Valerie Biancalana, Biljana Ilkovski, Kevin M Flanigan, Susan Arbuckle, Chandra Malladi, Phillip Robinson, Steven Vucic, Michele Mayer, Norma B Romero, Jon Andoni Urtizberea, Federico Garcia-Bragado, Pascale Guicheney, et al.

Journal article  |  2010  |  Neuromuscular Disorders

Brain structure and function in neurofibromatosis type 1: current concepts and future directions

Jonathan M Payne, Mahendranath D Moharir, Richard Webster, Kathryn N North

Journal article  |  2010  |  Journal of Neurology, Neurosurgery and Psychiatry

What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: new frontiers.

Joseph L Kissil, Jaishri O Blakeley, Rosalie E Ferner, Susan M Huson, Michel Kalamarides, Victor-Felix Mautner, Frank McCormick, Helen Morrison, Roger Packer, Vijaya Ramesh, Nancy Ratner, Katherine A Rauen, David A Stevenson, Kim Hunter-Schaedle, Kathryn North

Journal article  |  2010  |  American Journal of Medical Genetics, Part A

The NF Conference is the largest annual gathering of researchers and clinicians focused on neurofibromatosis and has been convened..

The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric alpha-actinins

Monkol Lek, Kate GR Quinlan, Kathryn N North

Journal article  |  2010  |  BioEssays

Feasibility of a Computerized Method to Measure Quality of "Everyday" Life in Children with Neuromuscular Disorders

Paula Bray, Anita C Bundy, Monique M Ryan, Kathryn N North

Journal article  |  2010  |  Physical and Occupational Therapy in Pediatrics

Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway

FJ Evesson, RA Peat, A Lek, F Brilot, HP Lo, RC Dale, RG Parton, KN North, ST Cooper

Journal article  |  2010  |  Journal of Biological Chemistry

Ferlins are an ancient family of C2 domain-containing proteins, with emerging roles in vesicular trafficking and human disease. Dy..

Serial night casting increases ankle dorsiflexion range in children and young adults with Charcot-Marie-Tooth disease: a randomised trial

Kristy J Rose, Jacqueline Raymond, Kathryn Refshauge, Kathryn N North, Joshua Burns

Journal article  |  2010  |  Journal of Physiotherapy

ACTN3 and ACE Genotypes in Elite Jamaican and US Sprinters

Robert A Scott, Rachael Irving, Laura Irwin, Errol Morrison, Vilma Charlton, Krista Austin, Dawn Tladi, Michael Deason, Samuel A Headley, Fred W Kolkhorst, Nan Yang, Kathryn North, Yannis P Pitsiladis

Journal article  |  2010  |  Medicine and Science in Sports and Exercise

Interventions for increasing ankle range of motion in patients with neuromuscular disease

Kristy J Rose, Joshua Burns, Danielle M Wheeler, Kathryn N North

Journal article  |  2010  |  Cochrane database of systematic reviews (Online)

Sarcomeric α-actinins and their role in human muscle disease

PJ Houweling, KN North

Journal article  |  2009  |  Future Neurology

Gradual expression of plectin deficiency in a patient with epidermolysis bullosa simplex and adult-onset muscular dystrophy

A Klausegger, L Wadell, N Grasern, L Lloyd, K Tran, JW Bauer, K North, DF Murrell

Conference Proceedings  |  2009  |  JOURNAL OF INVESTIGATIVE DERMATOLOGY

COMPARISON OF ENDOCYTOSIS IN DYNAMIN 2 MUTATIONS PRODUCING NEUROPATHY AND IN MUTATIONS CAUSING MYOPATHY

GA Nicholson, C Malladi, ML Kennerson, KN North, P Robinson

Conference Proceedings  |  2009  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Dysfunction induced by ischemia versus edema: Does edema matter?

Tanya L Butler, Jonathan R Egan, Fabian G Graf, Carol G Au, Aisling C McMahon, Kathryn N North, David S Winlaw

Journal article  |  2009  |  Journal of Thoracic and Cardiovascular Surgery

Neurofibromatosis type 1

Kevin P Boyd, Bruce R Korf, Amy Theos

Journal article  |  2009  |  Journal of the American Academy of Dermatology

MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes

Michele Bastiani, Libin Liu, Michelle M Hill, Mark P Jedrychowski, Susan J Nixon, Harriet P Lo, Daniel Abankwa, Robert Luetterforst, Manuel Fernandez-Rojo, Michael R Breen, Steven P Gygi, Jorgen Vinten, Piers J Walser, Kathryn N North, John F Hancock, Paul F Pilch, Robert G Parton

Journal article  |  2009  |  Journal of Cell Biology

Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1a

Renjing Liu, Samantha L Ginn, Monkol Lek, Kathryn N North, Ian E Alexander, David G Little, Aaron Schindeler

Journal article  |  2009  |  BMC Musculoskeletal Disorders

Myocardial membrane injury in pediatric cardiac surgery: An animal model

Jonathan R Egan, Tanya L Butler, Andrew D Cole, Smartin Abraham, John S Murala, David Baines, Neil Street, Lance Thompson, Oliver Biecker, John Dittmer, Sandra Cooper, Carol G Au, Kathryn N North, David S Winlaw

Journal article  |  2009  |  Journal of Thoracic and Cardiovascular Surgery

Cap disease due to mutation of the beta-tropomyosin gene (TPM2)

Nigel F Clarke, Ana Domazetovska, Leigh Waddell, Andrew Kornberg, Catriona McLean, Kathryn N North

Journal article  |  2009  |  Neuromuscular Disorders

Relationship between foot strength and motor function in preschool-age children

Kristy J Rose, Joshua Burns, Kathryn N North

Journal article  |  2009  |  Neuromuscular Disorders

α-actinin-3 and performance

N Yang, F Garton, K North

Other  |  2009

The human sarcomeric α-actinins (ACTN2 and ACTN3) are major structural components of the Z line in skeletal muscle; they play a ro..

alpha-Actinin-3 and Performance

Nan Yang, Fleur Garton, Kathryn North

Other  |  2009  |  Medicine and Sport Science

Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy

Alison G Compton, Douglas E Albrecht, Jane T Seto, Sandra T Cooper, Biljana Ilkovski, Kristi J Jones, Daniel Challis, David Mowat, Barbara Ranscht, Melanie Bahlo, Stanley C Froehner, Kathryn N North

Journal article  |  2008  |  American Journal of Human Genetics

Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats

Paul T Martin, G Diane Shelton, Peterj Dickinson, Beverly K Sturges, Rui Xu, Richard A LeCouteur, Ling T Guo, Robert A Grahn, Harriet P Lo, Kathryn N North, Richard Malik, Eva Engvall, Leslie A Lyons

Journal article  |  2008  |  Neuromuscular Disorders

Hand involvement in children with Charcot-Marie-Tooth disease type 1A

Joshua Burns, Paula Bray, Lauren A Cross, Kathryn N North, Monique M Ryan, Robert A Ouvrier

Journal article  |  2008  |  Neuromuscular Disorders

Brain Involvement in Muscular Dystrophies with Defective Dystroglycan Glycosylation

Emma Clement, Eugenio Mercuri, Caroline Godfrey, Janine Smith, Stephanie Robb, Maria Kinali, Volker Straub, Kate Bushby, Adnan Manzur, Beril Talim, Frances Cowan, Ros Quinlivan, Andrea Klein, Cheryl Longman, Robert McWilliam, Haluk Topaloglu, Rachael Mein, Stephen Abbs, Kathryn North, A James Barkovich, et al.

Journal article  |  2008  |  Annals of Neurology

Myocardial ischemia is more important than the effects of cardiopulmonary bypass on myocardial water handling and postoperative dysfunction: A pediatric animal model

Jonathan R Egan, Tanya L Butler, Andrew D Cole, Avetis Aharonyan, David Baines, Neil Street, Manchula Navaratnam, Oliver Biecker, Carla Zazulak, Carol G Au, Yee Mun Tan, Kathryn N North, David S Winlaw

Journal article  |  2008  |  Journal of Thoracic and Cardiovascular Surgery

A gene for speed: contractile properties of isolated whole EDL muscle from an alpha-actinin-3 knockout mouse

S Chan, JT Seto, DG MacArthur, N Yang, KN North, SI Head

Journal article  |  2008  |  American Journal of Physiology - Cell Physiology

Cerebrovascular dysplasia in neurofibromatosis type 1

AG Cairns, KN North

Journal article  |  2008  |  Journal of Neurology, Neurosurgery and Psychiatry

Reliability and validity of measuring foot and ankle muscle strength in very young children

KJ Rose, J Burns, RA Ouvrier, MM Ryan, KN North

Conference Proceedings  |  2008  |  Neuromuscular Disorders

Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy

Biljana Ilkovski, Nancy Mokbel, Raymond A Lewis, Kendall Walker, Kristen J Nowak, Ana Domazetovska, Nigel G Laing, Velia M Fowler, Kathryri N North, Sandra T Cooper

Journal article  |  2008  |  Journal of Neuropathology and Experimental Neurology

Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients

Carol G Au, Tanya L Butler, Jonathan R Egan, Sandra T Cooper, Harriet P Lo, Alison G Compton, Kathryn N North, David S Winlaw

Journal article  |  2008  |  Acta Neuropathologica

Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity

Rishika A Pace, Rachel A Peat, Naomi L Baker, Laura Zamurs, Matthias Moergelin, Melita Irving, Naomi E Adams, John F Bateman, David Mowat, Nicholas JC Smith, Phillipa J Lamont, Steven A Moore, Katherine D Mathews, Kathryn N North, Shireen R Lamande

Journal article  |  2008  |  Annals of Neurology

Why is alpha-actinin-3 deficiency so common in the general population? The evolution of athletic performance

Kathryn North

Journal article  |  2008  |  Twin Research and Human Genetics

Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders

Rachel A Peat, Jozef Gecz, Justin R Fallon, Patrick S Tarpey, Raffaella Smith, Andrew Futreal, Michael R Stratton, Shireen R Lamande, Nan Yang, Kathryn N North

Journal article  |  2008  |  Neuromuscular Disorders

Diagnosis and etiology of congenital muscular dystrophy

RA Peat, JM Smith, AG Compton, NL Baker, RA Pace, DJ Burkin, SJ Kaufman, SR Lamande, KN North

Journal article  |  2008  |  Neurology

UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) Binds to Alpha-Actinin 1: Novel Pathways in Skeletal Muscle?

Shira Amsili, Hagit Zer, Stephan Hinderlich, Sabine Krause, Michal Becker-Cohen, Daniel G MacArthur, Kathryn N North, Stella Mitrani-Rosenbaum

Journal article  |  2008  |  PLoS ONE

Interventions for increasing ankle range of motion in patients with neuromuscular disease

KJ Rose, J Burns, D Wheeler, KN North

Journal article  |  2008  |  Cochrane Database of Systematic Reviews

Dietary L-tyrosine supplementation in Nemaline myopathy

Monique M Ryan, Catherine Sy, Sian Rudge, Carolyn Ellaway, David Ketteridge, Laurence G Roddick, Susan T Iannaccone, Andrew J Kornberg, Kathryn N North

Journal article  |  2008  |  J Child Neurol

What's new in congenital myopathies?

Kathryn North

Journal article  |  2008  |  Neuromuscular Disorders

Reliability of quantifying foot and ankle muscle strength in very young children

Kristy J Rose, Joshua Burns, Monique M Ryan, Robert A Ouvrier, Kathryn N North

Journal article  |  2008  |  Muscle & Nerve

An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance

Daniel G MacArthur, Jane T Seto, Stephen Chan, Kate GR Quinlan, Joanna M Raftery, Nigel Turner, Megan D Nicholson, Anthony J Kee, Edna C Hardeman, Peter W Gunning, Gregory J Cooney, Stewart I Head, Nan Yang, Kathryn N North

Journal article  |  2008  |  Human Molecular Genetics

An examination of lexical and sublexical reading skills in children with neurofibromatosis type 1 (Child Neuropsychology 14, 5 (411))

SE Watt, EA Shores, KN North

Journal article  |  2008  |  Child Neuropsychology

Mutations in TPM3 are a common cause of congenital fiber type disproportion

Nigel F Clarke, Hanna Kolski, Danielle E Dye, Esther Lim, Robert LL Smith, Rakesh Patel, Michael C Fahey, Remi Bellance, Norma B Romero, Edward S Johnson, Annick Labarre-Vila, Nicole Monnier, Nigel G Laing, Kathryn N North

Journal article  |  2008  |  Annals of Neurology

Cognitive and psychological profile of males with Becker muscular dystrophy

Helen K Young, Belinda A Barton, Susan Waisbren, Lourdes Portales Dale, Monique M Ryan, Richard I Webster, Kathryn N North

Journal article  |  2008  |  Journal of Child Neurology

Distinctive patterns of microRNA expression in primary muscular disorders (vol 104, pg 17016, 2007)

Iris Eisenberg, Alai Eran, Ichizo Nishino, Maurizio Moggio, Costanza Lamperti, Anthony A Amato, Hart G Lidov, Peter B Kang, Kathryn N North, Stella Mitrani-Rosenbaum, Kevin M Flani-Gan, Lori A Neely, Duncan Whitney, Alan H Beggs, Isaac S Kohane, Louis M Kunkel

Journal article  |  2008  |  Proceedings of the National Academy of Sciences of the United States of America

Tropomyosin 4 defines novel filaments in skeletal muscle associated with muscle remodelling/regeneration in normal and diseased muscle

Nicole Vlahovich, Galina Schevzov, Visalini Nair-Shaliker, Biljana Iikovski, Stanley T Artap, Josephine E Joya, Anthony J Kee, Kathryn N North, Peter W Gunning, Edna C Hardeman

Journal article  |  2008  |  Cell Motility and the Cytoskeleton

An examination of lexical and sublexical reading skills in children with neurofibromatosis type 1

Sharon E Watt, E Arthur Shores, Kathryn N North

Journal article  |  2008  |  Child Neuropsychology

Skeletal muscle alpha-actin diseases

KN North, NG Laing

Other  |  2008

Skeletal muscle α-actin is the principal protein component of the adult skeletal muscle thin filament. The interaction between ske..

Skeletal Muscle Alpha-Actin Diseases

Kathryn N North, Nigel G Laing

Journal article  |  2008  |  Advances in Experimental Medicine and Biology

Limb-girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis

Harriet P Lo, Sandra T Cooper, Frances J Evesson, Jane T Seto, Maria Chiotis, Valerie Tay, Alison G Compton, Anita G Cairns, Alistair Corbett, Daniel G MacArthur, Nan Yang, Katrina Reardon, Kathryn N North

Journal article  |  2008  |  Neuromuscular Disorders

Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H)

A Koy, B Ilkovski, N Laing, K North, J Weis, E Neuen-Jacob, E Mayatepek, T Voit

Journal article  |  2007  |  Neuropediatrics

Mechanisms underlying intranuclear rod formation

Ana Domazetovska, Biljana Ilkovski, Sandra T Cooper, Majid Ghoddusi, Edna C Hardeman, Laurie S Minamide, Peter W Gunning, James R Bamburg, Kathryn N North

Journal article  |  2007  |  Brain

Intranuclear rod myopathy: Molecular pathogenesis and mechanisms of weakness

Ana Domazetovska, Biljana Ilkovski, Vikash Kumar, Valentina A Valova, Aurelie Vandebrouck, David O Hutchinson, Phillip J Robinson, Sandra T Cooper, John C Sparrow, Michelle Peckham, Kathryn N North

Journal article  |  2007  |  Annals of Neurology

The ACTN3 R577X polymorphism in east and west African athletes

Nan Yang, Daniel G Macarthur, Bezabhe Wolde, Vincent O Onywera, Michael K Boit, Sau Yin Mary-Ann Lau, Richard H Wilson, Robert A Scott, Yannis P Pitsiladis, Kathryn North

Journal article  |  2007  |  MEDICINE AND SCIENCE IN SPORTS AND EXERCISE

The ACTN3 R577X polymorphism in East and West African athletes.

Nan Yang, Daniel G MacArthur, Bezabhe Wolde, Vincent O Onywera, Michael K Boit, Sau Yin Mary-Ann Lau, Richard H Wilson, Robert A Scott, Yannis P Pitsiladis, Kathryn North

Journal article  |  2007  |  Medicine and Science in Sports and Exercise

PURPOSE: To determine the frequency of the ACTN3 R577X polymorphism (functional R allele and nonfunctional X allele) in a variety ..

Distinctive patterns of microRNA expression in primary muscular disorders

Iris Eisenberg, Alal Eran, Ichizo Nishino, Maurizio Moggio, Costanza Lamperti, Anthony A Arnato, Hart G Lidov, Peter B Kang, Kathryn N North, Stella Mitrani-Rosenbaum, Kevin M Flanigan, Lori A Neely, Duncan Whitney, Alan H Beggs, Isaac S Kohane, Louis M Kunkel

Journal article  |  2007  |  Proceedings of the National Academy of Sciences of the United States of America

The primary muscle disorders are a diverse group of diseases caused by various defective structural proteins, abnormal signaling m..

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

Daniel G MacArthur, Jane T Seto, Joanna M Raftery, Kate G Quinlan, Gavin A Huttley, Jeff W Hook, Frances A Lemckert, Anthony J Kee, Michael R Edwards, Yemima Berman, Edna C Hardeman, Peter W Gunning, Simon Easteal, Nan Yang, Kathryn N North

Journal article  |  2007  |  Nature Genetics

Spectrum of brain changes and genotype-phenotype correlations in secondary dystroglycanopathies

E Clement, E Mercuri, M Rutherford, J Smith, K North, M Kinali, V Straub, K Bushby, F Cowan, C Godfrey, R Quirdiva, H Topaloglu, A Klein, F Muntoni

Conference Proceedings  |  2007  |  Neuromuscular Disorders

TPM3 is a recurrent cause of congenital fibre type disproportion and is associated with a consistent phenotype

N Clarke, H Kolski, D Dye, E Lim, R Smith, R Patel, M Fahey, N Laing, K North

Conference Proceedings  |  2007  |  Neuromuscular Disorders

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

Naomi L Baker, Matthias Morgelin, Rishika A Pace, Rachel A Peat, Naomi E Adams, RJ McKinlay Gardner, Lewis P Rowland, Geoffrey Miller, Peter De Jonghe, Berten Ceulemans, Mark C Hannibal, Matthew Edwards, Elizabeth M Thompson, Richard Jacobson, Ros CM Quinlivan, Salim Aftimos, Andrew J Kornberg, Kathryn N North, John F Bateman, Shireen R Lamande

Journal article  |  2007  |  Annals of Neurology

Refining genotype - phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

Caroline Godfrey, Emma Clement, Rachael Mein, Martin Brockington, Janine Smith, Beril Talim, Volker Straub, Stephanie Robb, Ros Quinlivan, Lucy Feng, Cecilia Jimenez-Mallebrera, Eugenio Mercuri, AdnanY Manzur, Maria Kinali, Silvia Torelli, Susan C Brown, Caroline A Sewry, Kate Bushby, Haluk Topaloglu, Kathryn North, et al.

Journal article  |  2007  |  Brain

T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning

Shelley L Hyman, Deepak S Gill, Edwin Arthur Shores, Adam Steinberg, Kathryn N North

Journal article  |  2007  |  Journal of Neurology, Neurosurgery and Psychiatry

Overview of congenital myopathies

K North

Conference Proceedings  |  2007  |  Neuromuscular Disorders

The self-concept of children and adolescents with neurofibromatosis type 1

B Barton, K North

Journal article  |  2007  |  Child: Care, Health and Development

Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families

Rachel A Peat, Naomi L Baker, Kristi J Jones, Kathryn N North, Shireen R Lamande

Journal article  |  2007  |  Neuromuscular Disorders

Can we reliably quantify foot and ankle muscle strength in very young children?

KJ Rose, J Burns, RA Ouvrier, MM Ryan, KN North

Conference Proceedings  |  2007  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Decreased bone mineral density in neurofibromatosis type I - Results from a pediatric cohort

Sukhdeep Dulai, Julie Briody, Aaron Schindeler, Kathryn N North, Christopher T Cowell, David G Little

Journal article  |  2007  |  Journal of Pediatric Orthopaedics

Regional bone mineral density in paediatric patients with neurofibromatosis-1

CF Munns, JN Briody, DG Little, CT Cowell, K North

Conference Proceedings  |  2007  |  BONE

The pathogenesis of ACTA1-related congenital fiber type disproportion

Nigel F Clarke, Biljana Ilkovski, Sandra Cooper, Valentina A Valova, Phillip J Robinson, Ikuya Nonaka, Juan-Juan Feng, Steven Marston, Kathryn North

Journal article  |  2007  |  Annals of Neurology

Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis

Sandra T Cooper, Eddy Kizana, Jonathon D Yates, Harriet P Lo, Nan Yang, Zhan He Wu, Ian E Alexander, Kathryn N North

Journal article  |  2007  |  Neuromuscular Disorders

Outcome of noninvasive ventilation in children with neuromuscular disease

HK Young, A Lowe, DA Fitzgerald, C Seton, KA Waters, E Kenny, LS Hynan, ST Iannaccone, KN North, MM Ryan

Journal article  |  2007  |  Neurology

Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks

Colin N Moran, Nan Yang, Mark ES Bailey, Athanasios Tsiokanos, Athanasios Jamurtas, Daniel G MacArthur, Kathryn North, Yannis P Pitsiladis, Richard H Wilson

Journal article  |  2007  |  European Journal of Human Genetics

ACTN3: A genetic influence on muscle function and athletic performance

Daniel G MacArthur, Kathryn N North

Journal article  |  2007  |  Exercise and Sport Sciences Reviews

Myosin storage (hyaline body) myopathy: A case report

Meena V Shingde, Penelope J Spring, Adam Maxwell, Edward J Wills, Clive G Harper, Danielle E Dye, Nigel G Laing, Kathryn N North

Journal article  |  2006  |  Neuromuscular Disorders

Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder

Shelley L Hyman, E Arthur Shores, Kathryn N North

Journal article  |  2006  |  Developmental Medicine and Child Neurology

Molecular genetic analysis of 6 glycosyltransferases in a large population of dystroglycanopathy patients significantly widens the spectrum of phenotypes resulting from POMT1, POMGnT1 and Fukutin mutations

C Godfrey, R Mein, M Brockington, E Elson, H Topaloglu, J Smith, D Escolar, E Bertini, I Merlini, E Mercuri, K Bushby, V Straub, K North, S Abbs, F Muntoni

Conference Proceedings  |  2006  |  Neuromuscular Disorders

Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy

J Senderek, M Krieger, C Stendel, K North, F Muntoni, S Quijano-Roy, F Ebinger, JM Schroder, T Voit, J Weis, H Topaloglu, K Zerres

Conference Proceedings  |  2006  |  Neuromuscular Disorders

Age-related findings on MRI in neurofibromatosis type 1

Deepak S Gill, Shelley L Hyman, Adam Steinberg, Kathryn N North

Journal article  |  2006  |  Pediatric Radiology

Myocardial water handling and the role of aquaporins

Jonathan R Egan, Tanya L Butler, Carol G Au, Yee Mun Tan, Kathryn N North, David S Winlaw

Journal article  |  2006  |  Biochimica et Biophysica Acta - Biomembranes

Cardiac aquaporin expression in humans, rats, and mice

Tanya L Butler, Carol G Au, Baoxue Yang, Jonathan R Egan, Yee Mun Tan, Edna C Hardeman, Kathryn N North, AS Verkman, David S Winlaw

Journal article  |  2006  |  American Journal of Physiology - Heart and Circulatory Physiology

A gene for speed: the ACTN3 R577X polymorphism influences muscle performance

Daniel Macarthur, Nan Yang, Jane Seto, Joanna Raftery, Anthony Kee, Edna Hardeman, Peter Gunning, Kathryn North

Conference Proceedings  |  2006  |  NEUROMUSCULAR DISORDERS

Dietary L-tyrosine supplementation in nemaline myopathy

Monique Ryan, Catherine Sy, Sian Rudge, Carolyn Ellaway, David Ketteridge, Laurence Roddick, Susan Iannaccone, Andrew Kornberg, Jon Silberstein, Kathryn North

Conference Proceedings  |  2006  |  NEUROMUSCULAR DISORDERS

Rippling muscle disease

Helene L Roberts, Bruce Day, Harriet Lo, Catriona McLean, Kathryn North

Journal article  |  2006  |  Journal of Clinical Neuroscience

SEPN1: Associated with congenital fiber-type disproportion and insulin resistance

NF Clarke, W Kidson, S Quijano-Roy, B Estournet, A Ferreiro, P Guicheney, JI Manson, AJ Kornberg, LK Shield, KN North

Journal article  |  2006  |  Annals of Neurology

Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: Clinical and pathological variability within a kindred

DO Hutchinson, A Charlton, NG Laing, B Ilkovski, KN North

Journal article  |  2006  |  Neuromuscular Disorders

Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3

DJ Hernandez-Deviez, S Martin, SH Laval, HP Lo, ST Cooper, KN North, K Bushby, RG Parton

Journal article  |  2006  |  Human Molecular Genetics

Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy

J Senderek, M Krieger, C Stendel, C Bergmann, M Moser, N Breitbach-Faller, S Rudnik-Schoneborn, A Blaschek, NI Wolf, I Harting, K North, J Smith, F Muntoni, M Brockington, S Quijano-Roy, F Renault, R Herrmann, LM Hendershot, JM Schroder, H Lochmuller, et al.

Journal article  |  2005  |  Nature Genetics

Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy

B Ilkovski, S Clement, C Sewry, KN North, ST Cooper

Journal article  |  2005  |  Neuromuscular Disorders

A case-control study of deflazacort therapy for Duchenne muscular dystrophy

K Rose, KN North, MM Ryan

Conference Proceedings  |  2005  |  JOURNAL OF THE NEUROLOGICAL SCIENCES

Non-invasive ventilation in children with neuromuscular disease: a clinical and quality of life outcome study

H Young, A Lowe, D Fitzgerald, C Seton, K Waters, E Kenny, K North, M Ryan

Conference Proceedings  |  2005  |  JOURNAL OF THE NEUROLOGICAL SCIENCES

A dominant congenital non progressive motor neuron disorder

SW Reddel, MM Ryan, RA Ouvrier, KN North, GA Nicholson

Conference Proceedings  |  2005  |  JOURNAL OF THE NEUROLOGICAL SCIENCES

New insights into the genetic diagnosis of collagen VI-related muscular dystrophies

R Peat, N Baker, K Jones, S Lamande, K North

Conference Proceedings  |  2005  |  JOURNAL OF THE NEUROLOGICAL SCIENCES

Dietary tyrosine supplementation in nemaline myopathy

K Rose, M Ryan, C Sy, L Ketteridge, L Roddick, S Iannaccone, A Kornberg, K North

Conference Proceedings  |  2005  |  JOURNAL OF THE NEUROLOGICAL SCIENCES

A novel X-linked form of congenital fiber-type disproportion

NF Clarke, RLL Smith, M Bahlo, KN North

Journal article  |  2005  |  Annals of Neurology

The nature and frequency of cognitive deficits in children with neurofibromatosis type 1

SL Hyman, A Shores, KN North

Journal article  |  2005  |  Neurology

Genes and human elite athletic performance

D MacArthur, K North

Journal article  |  2005  |  Human Genetics

The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders

AG Compton, ST Cooper, PM Hill, N Yang, SC Froehner, KN North

Journal article  |  2005  |  Journal of Neuropathology and Experimental Neurology

Quantitation of long-chain acylcarnitines by HPLC/fluorescence detection: application to plasma and tissue specimens from patients with carnitine palmitoyltransferase-II deficiency

PE Minkler, J Kerner, KN North, CL Hoppel

Journal article  |  2005  |  Clinica Chimica Acta

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

NL Baker, M Morgelin, R Peat, N Goemans, KN North, JF Bateman, SR Lamande

Journal article  |  2005  |  Human Molecular Genetics

Congenital myopathies

MM Ryan, KN North