Monique Ryan

Prenusinersen economic and health-related quality of life burden of spinal muscular atrophy.

Georgina M Chambers, Stella Nalukwago Settumba, Kate A Carey, Anita Cairns, Manoj P Menezes, Monique Ryan, Michelle A Farrar

Journal article  |  2020  |  Neurology

OBJECTIVE: To quantify the economic and health-related quality of life (HRQoL) burden incurred by households with a child affected..

Benefits of powered standing wheelchair devices for adolescents with Duchenne muscular dystrophy in the first year of use

Klair Bayley, Stephanie Parkinson, Peter Jacoby, Donna Cross, Sue Morris, Nitamarie Vorster, Cara Schofield, Maina Kava, Aris Siafarikas, Kerry Evans, Odette Gaynor, Linda Chiu, Monique M Ryan, Anita Cairns, Damian Clark, Jenny Downs

Journal article  |  2020  |  Journal of Paediatrics and Child Health

Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation

G Perez-Siles, A Cutrupi, M Ellis, R Screnci, D Mao, M Uesugi, Eppie M Yiu, Monique M Ryan, BO Choi, G Nicholson, ML Kennerson

Journal article  |  2020  |  Scientific Reports

Charcot-Marie-Tooth (CMT) is a group of inherited diseases clinically and genetically heterogenous, characterised by length depend..

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.

Pietro Spitali, Irina Zaharieva, Stefan Bohringer, Monika Hiller, Amina Chaouch, Andreas Roos, Chiara Scotton, Mireille Claustres, Luca Bello, Craig M McDonald, Eric P Hoffman, undefined CINRG Investigators, Zaida Koeks, H Eka Suchiman, Sebahattin Cirak, Mariacristina Scoto, Mojgan Reza, Peter AC 't Hoen, Erik H Niks, Sylvie Tuffery-Giraud, et al.

Journal article  |  2020  |  European Journal of Human Genetics

Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the DMD gene leading to the lack of dystrophin. Variability ..

Communication about spinal muscular atrophy and genetic risk within families: An Australian pilot study

Ellen Pieper, Adrienne Sexton, Monique M Ryan, Robin Forbes

Journal article  |  2020  |  Journal of Paediatrics and Child Health

AIM: In families with a child diagnosed with spinal muscular atrophy (SMA), siblings who do not have SMA could still be genetic ca..

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

Rosa Woldegebriel, Jouni Kvist, Noora Andersson, Katrin Ounap, Karit Reinson, Monica H Wojcik, Emilia K Bijlsma, Mariette J Hoffer, Monique M Ryan, Zornitza Stark, Maie Walsh, Inge Cuppen, Marie-Jose H van den Boogaard, Diana Bharucha-Goebel, Sandra Donkervoort, Sara Winchester, Roberto Zori, Carsten G Bonnemann, Reza Maroofian, Emer O'Connor, et al.

Journal article  |  2020  |  Human Molecular Genetics

Defects in the mRNA export scaffold protein GANP, encoded by the MCM3AP gene, cause autosomal recessive early-onset peripheral neu..

The effects of calf massage in boys with Duchenne muscular dystrophy: a prospective interventional study

Kate Carroll, Eppie M Yiu, Monique M Ryan, Rachel A Kennedy, Katy de Valle

Journal article  |  2020  |  Disability and Rehabilitation

Mobile arm supports in Duchenne muscular dystrophy: a pilot study of user experience and outcomes

Ashlee Cruz, Libby Callaway, Melinda Randall, Monique Ryan

Journal article  |  2020  |  Disability and Rehabilitation: Assistive Technology

Purpose: This pilot study examined whether two different types of non-powered mobile arm supports (MAS) enhanced upper limb functi..

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.

Macarena Cabrera-Serrano, David Joseph Coote, Dimitar Azmanov, Hayley Goullee, Erik Andersen, Catriona McLean, Mark Davis, Ryosuke Ishimura, Zornitza Stark, Jean-Michel Vallat, Masaaki Komatsu, Andrew Kornberg, Monique Ryan, Nigel G Laing, Gina Ravenscroft

Journal article  |  2020  |  Journal of Medical Genetics

BACKGROUND: UBA5 is the activating enzyme of UFM1 in the ufmylation post-translational modification system. Different neurological..

False Negative Carrier Screening in Spinal Muscular Atrophy

Sophie Butcher, Melanie Smith, Ian R Woodcock, Martin Delatycki, Monique M Ryan, Robin Forbes

Journal article  |  2019  |  Journal of Child Neurology

Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants

Hannah F Jones, Samantha J Bryen, Leigh B Waddell, Adam Bournazos, Mark Davis, Michelle A Farrar, Catriona A McLean, David R Mowat, Hugo Sampaio, Ian R Woodcock, Monique M Ryan, Kristi J Jones, Sandra T Cooper

Journal article  |  2019  |  Neuromuscular Disorders

A precise genetic diagnosis of a dystrophinopathy has far-reaching implications for affected boys and their families. We present t..

Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8

Christopher M Richmond, Richard Leventer, Monique M Ryan, Martin B Delatycki

Journal article  |  2019  |  Clinical Genetics

Biallelic pathogenic variants in CA8 cause cerebellar ataxia, mental retardation and dysequilibrium syndrome 3 (CAMRQ3), a rare fo..

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

Darryl C De Vivo, Enrico Bertini, Kathryn J Swoboda, Wuh-Liang Hwu, Thomas O Crawford, Richard S Finkel, Janbernd Kirschner, Nancy L Kuntz, Julie A Parsons, Monique M Ryan, Russell J Butterfield, Haluk Topaloglu, Tawfeg Ben-Omran, Valeria A Sansone, Yuh-Jyh Jong, Francy Shu, John F Staropoli, Douglas Kerr, Alfred W Sandrock, Christopher Stebbins, et al.

Journal article  |  2019  |  Neuromuscular Disorders

Spinal muscular atrophy (SMA) is a neurodegenerative disease associated with severe muscle atrophy and weakness in the limbs and t..

Pediatric Neuroschistosomiasis: A Case Report and Review of the Literature

Sophie CH Wen, Rebecca Anderson, Monique M Ryan, Surekha Kumbla, Alison Wray, Andrew Steer

Journal article  |  2019  |  Journal of the Pediatric Infectious Diseases Society

Neuroschistosomiasis is a rare but severe manifestation of Schistosoma infection. Diagnosis is challenging and surgical biopsy is ..

Measurement properties and utility of performance-based outcome measures of physical functioning in individuals with facioscapulohumeral dystrophy - A systematic review and evidence synthesis

K de Valle, JL McGinley, I Woodcock, MM Ryan, F Dobson

Journal article  |  2019  |  Neuromuscular Disorders

Access to reliable, valid, accurate and responsive outcome measures is essential to ensure standards of care and clinical trial re..

Phosphorylated neurofilament heavy chain (PNF-H) and motor function achievement in nusinersen-treated individuals with spinal muscular atrophy (SMA)

CJ Sumner, BT Darras, F Muntoni, TO Crawford, RS Finkel, E Mercuri, DC De Vivo, M Oskoui, EF Tizzano, MM Ryan, Y Liu, M Petrillo, C Stebbins, E Koenig, S Fradette, W Farwell

Conference Proceedings  |  2019  |  Journal of the Neurological Sciences

Nusinersen in infants who initiate treatment in a presymptomatic stage of spinal muscular atrophy (SMA): Interim results from the phase 2 nurture study

MM Ryan, DC De Vivo, E Bertini, WL Hwu, TO Crawford, KJ Swoboda, RS Finkel, J Kirschner, NL Kuntz, J Parsons, RJ Butterfield, H Topaloglu, T Ben Omran, VA Sansone, YJ Jong, F Shu, R Foster, I Bhan, S Fradette, W Farwell

Conference Proceedings  |  2019  |  Journal of the Neurological Sciences

Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy.

Daniela J Conrado, Jane Larkindale, Alexander Berg, Micki Hill, Jackson Burton, Keith R Abrams, Richard T Abresch, Abby Bronson, Douglass Chapman, Michael Crowther, Tina Duong, Heather Gordish-Dressman, Lutz Harnisch, Erik Henricson, Sarah Kim, Craig M McDonald, Stephan Schmidt, Camille Vong, Xiaoxing Wang, Brenda L Wong, et al.

Journal article  |  2019  |  Journal of Pharmacokinetics and Pharmacodynamics

Drug development for rare diseases is challenged by small populations and limited data. This makes development of clinical trial p..

Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function

Eric P Hoffman, Benjamin D Schwartz, Laurel J Mengle-Gaw, Edward C Smith, Diana Castro, Jean K Mah, Craig M McDonald, Nancy L Kuntz, Richard S Finkel, Michela Guglieri, Katharine Bushby, Mar Tulinius, Yoram Nevo, Monique M Ryan, Richard Webster, Andrea L Smith, Lauren P Morgenroth, Adrienne Arrieta, Maya Shimony, Catherine Siener, et al.

Journal article  |  2019  |  Neurology

OBJECTIVE: To study vamorolone, a first-in-class steroidal anti-inflammatory drug, in Duchenne muscular dystrophy (DMD). METHODS: ..

Biomarkers and the Development of a Personalized Medicine Approach in Spinal Muscular Atrophy

Didu ST Kariyawasam, Arlene D'Silva, Cindy Lin, Monique M Ryan, Michelle A Farrar

Journal article  |  2019  |  Frontiers in Neurology

Peripheral nerve disease secondary to systemic conditions in children

Jo M Wilmshurst, Robert A Ouvrier, Monique M Ryan

Journal article  |  2019  |  Therapeutic Advances in Neurological Disorders

Comparison of phosphorylated neurofilament heavy chain (pNF-H) and neurofilament light chain (NF-L) concentrations in cerebrospinal fluid (CSF) among multiple spinal muscular atrophy (SMA) populations

N Deconinck, C Bruno, CJ Sumner, BT Darras, F Muntoni, TO Crawford, RS Finkel, E Mercuri, DC De Vivo, M Oskoui, E Tizzano, MM Ryan, Y Liu, M Petrillo, C Stebbins, E Koenig, S Fradette, W Farwell

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF NEUROLOGY

Nusinersen in infants who initiate treatment in a presymptomatic stage of Spinal Muscular Atrophy (SMA): interim results from the phase 2 NURTURE study

VA Sansone, DC De Vivo, E Bertini, W-L Hwu, TO Crawford, KJ Swoboda, RS Finkel, J Kirschner, N Kuntz, J Parsons, MM Ryan, RJ Butterfield, H Topaloglu, T Ben Omran, Y-J Jong, F Shu, SP Bevernage, K Johnson, R Foster, I Bhan, et al.

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF NEUROLOGY

Physical activity of children and adolescents with Charcot-Marie-Tooth neuropathies: A cross-sectional case-controlled study

Rachel A Kennedy, Kate Carroll, Kade L Paterson, Monique M Ryan, Joshua Burns, Kristy Rose, Jennifer L McGinley

Journal article  |  2019  |  PLOS ONE

Recessive MYH7-related myopathy in two families

Sarah J Beecroft, Martijn van de Locht, Josine M de Winter, Coen A Ottenheijm, Caroline A Sewry, Shehla Mohammed, Monique M Ryan, Ian R Woodcock, Lauren Sanders, Rebecca Gooding, Mark R Davis, Emily C Oates, Nigel G Laing, Gianina Ravenscroft, Catriona A McLean, Heinz Jungbluth

Journal article  |  2019  |  Neuromuscular Disorders

Falls in paediatric Charcot-Marie-Tooth disease: a 6-month prospective cohort study

Rachel A Kennedy, Kate Carroll, Graham Hepworth, Kade L Paterson, Monique M Ryan, Jennifer L McGinley

Journal article  |  2019  |  Archives of Disease in Childhood

Neurofilament as a potential biomarker for spinal muscular atrophy

Basil T Darras, Thomas O Crawford, Richard S Finkel, Eugenio Mercuri, Darryl C De Vivo, Maryam Oskoui, Eduardo F Tizzano, Monique M Ryan, Francesco Muntoni, Guolin Zhao, John Staropoli, Alexander McCampbell, Marco Petrillo, Christopher Stebbins, Stephanie Fradette, Wildon Farwell, Charlotte J Sumner

Journal article  |  2019  |  Annals of Clinical and Translational Neurology

Association of Phosphorylated Neurofilament Heavy Chain (pNF-H) Levels With Motor Function Achievement in Individuals With Spinal Muscular Atrophy (SMA) Treated With Nusinersen

Charlotte J Sumner, Basil T Darras, Francesco Muntoni, Thomas O Crawford, Richard S Finkel, Eugenio Mercuri, Darryl C De Vivo, Maryam Oskoui, Eduardo Tizzano, Monique M Ryan, Guolin Zhao, Marco Petrillo, Christopher Stebbins, Stephanie Fradette, Wildon Farwell

Conference Proceedings  |  2019  |  NEUROLOGY

Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy

Nitamarie Vorster, Kerry Evans, Nada Murphy, Maina Kava, Anita Cairns, Damian Clarke, Monique M Ryan, Aris Siafarikas, Peter W Rowe, Stephanie Parkinson, Odette Gaynor, Linda Chiu, Janine Anderson, Klair Bayley, Peter Jacoby, Donna Cross, Jenny Downs

Journal article  |  2019  |  Neuromuscular Disorders

Development of best practice guidelines for paediatric Charcot-Marie-Tooth disease

Eppie Yiu, Joshua Burns, Manoj Menezes, Monique Ryan

Conference Proceedings  |  2018  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

Melissa R Mandarakas, Manoj P Menezes, Kristy J Rose, Rosemary Shy, Kate Eichinger, Maria Foscan, Timothy Estilow, Rachel Kennedy, Karen Herbert, Paula Bray, Kathryn Refshauge, Monique M Ryan, Eppie M Yiu, Michelle Farrar, Hugo Sampaio, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, SabrinaW Yum, David N Herrmann, et al.

Journal article  |  2018  |  Brain

Development and validation of the CMT infant scale

Melissa Mandarakas, Manoj Menezes, Kristy Rose, Rosemary Shy, Kate Eichinger, Maria Foscan, Timothy Estilow, Rachel Kennedy, Karen Herbert, Paula Bray, Kathryn Refshauge, Monique Ryan, Eppie Yiu, Michelle Farrar, Hugo Sampaio, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Sabrina Yum, David Herrmann, et al.

Conference Proceedings  |  2018  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: Long-term natural history with and without glucocorticoids.

Craig M McDonald, Heather Gordish-Dressman, Erik K Henricson, Tina Duong, Nanette C Joyce, Sanjay Jhawar, Mika Leinonen, Fengming Hsu, Anne M Connolly, Avital Cnaan, Richard T Abresch, undefined CINRG investigators for PubMed

Journal article  |  2018  |  Neuromuscular Disorders

We describe changes in pulmonary function measures across time in Duchenne muscular dystrophy patients treated with glucocorticoid..

MCM3AP in recessive axonal neuropathy and mild intellectual disability

E Ylikallio, R Woldegebriel, M Tumiati, P Isohanni, MM Ryan, Z Stark, W Maie, SL Sawyer, KM Bell, A Oshlack, PL Lockhart, M Shcherbii, A Estrada-Cuzcano, D Atkinson, T Hartley, M Tetreault, I Cuppen, WL van der Pol, A Candayan, E Battaloglu, et al.

Conference Proceedings  |  2018  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug

Laurie S Conklin, Jesse M Damsker, Eric P Hoffman, William J Jusko, Panteleimon D Mavroudis, Benjamin D Schwartz, Laurel J Mengle-Gaw, Edward C Smith, Jean K Mah, Michela Guglieri, Yoram Nevo, Nancy Kuntz, Craig M McDonald, Mar Tulinius, Monique M Ryan, Richard Webster, Diana Castro, Richard S Finkel, Andrea L Smith, Lauren P Morgenroth, et al.

Journal article  |  2018  |  Pharmacological Research

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

Nusinersen for SMA: expanded access programme

Michelle A Farrar, Hooi Ling Teoh, Kate A Carey, Anita Cairns, Robin Forbes, Karen Herbert, Sandra Holland, Kristi J Jones, Manoj P Menezes, Margot Morrison, Kate Munro, Daniella Villano, Richard Webster, Ian R Woodcock, Eppie M Yiu, Hugo Sampaio, Monique M Ryan

Journal article  |  2018  |  Journal of Neurology, Neurosurgery & Psychiatry

Infantile-Onset Myelin Protein Zero-Related Demyelinating Neuropathy Presenting as an Upper Extremity Monoplegia

Eppie M Yiu, Jithangi Wanigasinghe, Mark T Mackay, Michael Gonzales, GarthA Nicholson, Monique M Ryan

Journal article  |  2018  |  Seminars in Pediatric Neurology

Investigation of the activation of the temporalis and masseter muscles in voluntary and spontaneous smile production

Jessica E Steele, Ian R Woodcock, Adrian D Murphy, Monique M Ryan, Tony J Penington, Christopher J Coombs

Journal article  |  2018  |  Journal of Plastic, Reconstructive & Aesthetic Surgery

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome

Ian R Woodcock, Manoj P Menezes, Lee Coleman, Joy Yaplito-Lee, Heidi Peters, Susan M White, Rachel Stapleton, Dean G Phelan, Belinda Chong, Sebastian Lunke, Zornitza Stark, James Pitt, Monique M Ryan, Colin Robertson, Eppie M Yiu

Journal article  |  2018  |  Seminars in Pediatric Neurology

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

Unique clinical and neurophysiologic profile of a cohort of children with CMTX3

Manoj Kanhangad, Kayla Cornett, Megan H Brewer, Garth A Nicholson, Monique M Ryan, Robert L Smith, Gopinath M Subramanian, Helen K Young, Stephan Zuchner, Marina L Kennerson, Joshua Burns, Manoj P Menezes

Journal article  |  2018  |  Neurology

Gait and footwear in children and adolescents with Charcot-Marie-Tooth disease: A cross-sectional, case-controlled study

Rachel A Kennedy, Jennifer L McGinley, Kade L Paterson, Monique M Ryan, Kate Carroll

Journal article  |  2018  |  Gait & Posture

A multinational study on motor function in early-onset FSHD

Jean K Mah, Jia Feng, Marni B Jacobs, Tina Duong, Kate Carroll, Katy de Valle, Cara L Carty, Lauren P Morgenroth, Michela Guglieri, Monique M Ryan, Paula R Clemens, Mathula Thangarajh, Richard Webster, Edward Smith, Anne M Connolly, Craig M McDonald, Peter Karachunski, Mar Tulinius, Amy Harper, Avital Cnaan, et al.

Journal article  |  2018  |  Neurology

The floppy baby: A diagnostic challenge

M Ryan

Journal article  |  2018  |  Medicine Today

Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity

Sanne MR Hobbelink, Cain R Brockley, Rachel A Kennedy, Kate Carroll, Katy de Valle, Padma Rao, Mark R Davis, Nigel G Laing, Nicol C Voermans, Monique M Ryan, Eppie M Yiu

Journal article  |  2018  |  Brain and Behavior

Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study.

Craig M McDonald, Erik K Henricson, Richard T Abresch, Tina Duong, Nanette C Joyce, Fengming Hu, Paula R Clemens, Eric P Hoffman, Avital Cnaan, Heather Gordish-Dressman, undefined CINRG Investigators

Journal article  |  2018  |  The Lancet

BACKGROUND: Glucocorticoid treatment is recommended as a standard of care in Duchenne muscular dystrophy; however, few studies hav..

DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans

Ronan V da Silva, Helge C Johannssen, Matthias T Wyss, R Brian Roome, Farin B Bourojeni, Nicolas Stifani, Ashley PL Marsh, Monique M Ryan, Paul J Lockhart, Richard J Leventer, Linda J Richards, Bernard Rosenblatt, Myriam Srour, Bruno Weber, Hanns Ulrich Zeilhofer, Artur Kania

Journal article  |  2018  |  Cell Reports

Evaluation of Serial Casting for Boys with Duchenne Muscular Dystrophy: A Case Report

Kate Carroll, Katy de Valle, Andrew Kornberg, Monique Ryan, Rachel Kennedy

Journal article  |  2018  |  Physical & Occupational Therapy In Pediatrics

THERAPEUTIC OPTIONS TO IMPROVE BONE HEALTH OUTCOMES IN DUCHENNE MUSCULAR DYSTROPHY: ZOLEDRONIC ACID AND PUBERTAL INDUCTION

Angelina Lim, Margaret Zacharin, Janne Pitkin, Katy de Valle, Monique M Ryan, Peter J Simm

Journal article  |  2017  |  Journal of Paediatrics and Child Health

Interleukin 1 Receptor-Like 1 Protein (ST2) is a Potential Biomarker for Cardiomyopathy in Duchenne Muscular Dystrophy.

Julia Anderson, Haeri Seol, Heather Gordish-Dressman, Yetrib Hathout, Christopher F Spurney, undefined CINRG Investigators

Journal article  |  2017  |  Pediatric Cardiology

Duchenne muscular dystrophy (DMD) is a rare, fatal X-linked disorder characterized by the lack of dystrophin, a key sarcolemma mus..

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

Richard S Finkel, Eugenio Mercuri, Basil T Darras, Anne M Connolly, Nancy L Kuntz, Janbernd Kirschner, Claudia A Chiriboga, Kayoko Saito, Laurent Servais, Eduardo Tizzano, Haluk Topaloglu, Már Tulinius, Jacqueline Montes, Allan M Glanzman, Kathie Bishop, Z John Zhong, Sarah Gheuens, C Frank Bennett, Eugene Schneider, Wildon Farwell, et al.

Journal article  |  2017  |  New England Journal of Medicine

BACKGROUND: Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient level of su..

Acquired and hereditary neuropathies

MM Ryan, HJ McMillan

Book Chapter  |  2017

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.

Craig M McDonald, Craig Campbell, Ricardo Erazo Torricelli, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Peter Heydemann, Anna Kaminska, Janbernd Kirschner, Francesco Muntoni, Andrés Nascimento Osorio, Ulrike Schara, Thomas Sejersen, Perry B Shieh, H Lee Sweeney, Haluk Topaloglu, Már Tulinius, Juan J Vilchez, Thomas Voit, Brenda Wong, et al.

Journal article  |  2017  |  The Lancet

BACKGROUND: Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare neuromuscular, X-linked recessive disease. Dystro..

CLINICAL AND NEUROPHYSIOLOGICAL PROFILE OF CMTX3 IN CHILDHOOD

M Kanhangad, K Cornett, MH Brewer, GA Nicholson, RA Ouvrier, MM Ryan, RL Smith, GM Subramanian, HK Young, ML Kennerson, J Burns, MP Menezes

Conference Proceedings  |  2017  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Acute flaccid myelitis in childhood: a retrospective cohort study

EW Andersen, AJ Kornberg, JL Freeman, RJ Leventer, MM Ryan

Journal article  |  2017  |  European Journal of Neurology

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, Pirjo Isohanni, Monique M Ryan, Zornitza Stark, Maie Walsh, Sarah L Sawyer, Katrina M Bell, Alicia Oshlack, Paul J Lockhart, Mariia Shcherbii, Alejandro Estrada-Cuzcano, Derek Atkinson, Taila Hartley, Martine Tetreault, Inge Cuppen, W Ludo van der Pol, Ayse Candayan, Esra Battaloglu, et al.

Journal article  |  2017  |  Brain

Deterioration in gait and functional ambulation in children and adolescents with Charcot-Marie-Tooth disease over 12 months

Rachel Kennedy, Kate Carroll, Kade L Paterson, Monique M Ryan, Jennifer L McGinley

Journal article  |  2017  |  NEUROMUSCULAR DISORDERS

Emergency treatment with levetiracetam or phenytoin in status epilepticus in children-the EcLiPSE study: study protocol for a randomised controlled trial

Mark D Lyttle, Carrol Gamble, Shrouk Messahel, Helen Hickey, Anand Iyer, Kerry Woolfall, Amy Humphreys, Naomi EA Bacon, Louise Roper, Franz E Babl, Stuart R Dalziel, Mary Ryan, Richard E Appleton

Journal article  |  2017  |  Trials

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

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

Maie Walsh, Katrina M Bell, Belinda Chong, Emma Creed, Gemma R Brett, Kate Pope, Natalie P Thorne, Simon Sadedin, Peter Georgeson, Dean G Phelan, Timothy Day, Jessica A Taylor, Adrienne Sexton, Paul J Lockhart, Lynette Kiers, Michael Fahey, Ivan Macciocca, Clara L Gaff, Alicia Oshlack, Eppie M Yiu, et al.

Journal article  |  2017  |  Annals of Clinical and Translational Neurology

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

Evaluation of non-coding variation in GLUT1 deficiency

Yu-Chi Liu, Jia Wei Audrey Lee, Susannah T Bellows, John A Damiano, Saul A Mullen, Samuel F Berkovic, Melanie Bahlo, Ingrid E Scheffer, Michael S Hildebrand

Journal article  |  2016  |  Developmental Medicine & Child Neurology

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

Jijun Wan, Janos Steffen, Michael Yourshaw, Hafsa Mamsa, Erik Andersen, Sabine Rudnik-Schoeneborn, Kate Pope, Katherine B Howell, Catriona A McLean, Andrew J Kornberg, Joerg Joseph, Paul J Lockhart, Klaus Zerres, Monique M Ryan, Stanley F Nelson, Carla M Koehler, Joanna C Jen

Journal article  |  2016  |  Brain

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Zornitza Stark, Tiong Y Tan, Belinda Chong, Gemma R Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie, David J Amor, Ravi Savarirayan, George McGillivray, Lilian Downie, Paul G Ekert, Christiane Theda, Paul A James, Joy Yaplito-Lee, Monique M Ryan, Richard J Leventer, et al.

Journal article  |  2016  |  Genetics in Medicine

Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation

Gonzalo Perez-Siles, Carolyn Ly, Adrienne Grant, Alexander P Drew, Eppie M Yiu, Monique M Ryan, David T Chuang, Shih-Chia Tso, Garth A Nicholson, Marina L Kennerson

Journal article  |  2016  |  Neurobiology of Disease

Fifty years of paediatric neurology in Australasia

Lloyd K Shield, Kate Riney, Jayne H Antony, Robert A Ouvrier, Monique M Ryan

Journal article  |  2016  |  Journal of Paediatrics and Child Health

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease

Manoj P Menezes, Shamima Rahman, Kaustuv Bhattacharya, Damian Clark, John Christodoulou, Carolyn Ellaway, Michelle Farrar, Matthew Pitt, Hugo Sampaio, Tyson L Ware, Yehani Wedatilake, David R Thorburn, Monique M Ryan, Robert Ouvrier

Journal article  |  2016  |  Mitochondrion

DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study

Luca Bello, Lauren P Morgenroth, Heather Gordish-Dressman, Eric P Hoffman, Craig M McDonald, Sebahattin Cirak

Journal article  |  2016  |  Neurology

Describing nutrition in spinal muscular atrophy: A systematic review

Georgia E Moore, Amara W Lindenmayer, Grace A McConchie, Monique M Ryan, Zoe E Davidson

Journal article  |  2016  |  Neuromuscular Disorders

Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015

Rabi Tawil, Jean K Mah, Scott Baker, Kathryn R Wagner, Monique M Ryan

Journal article  |  2016  |  Neuromuscular Disorders

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3

Megan H Brewer, Rabia Chaudhry, Jessica Qi, Aditi Kidambi, Alexander P Drew, Manoj P Menezes, Monique M Ryan, Michelle A Farrar, David Mowat, Gopinath M Subramanian, Helen K Young, Stephan Zuchner, Stephen W Reddel, Garth A Nicholson, Marina L Kennerson

Journal article  |  2016  |  PLOS Genetics

Cerebral palsy is not a diagnosis: A case report of a novel atlastin-1 mutation

Erik W Andersen, Richard J Leventer, Dinah S Reddihough, Mark R Davis, Monique M Ryan

Journal article  |  2016  |  Journal of Paediatrics and Child Health

Peripheral Nerve Ultrasound in Children with Dejerine-Sottas Disease

Eppie Yiu, Sanne Hobbelink, Monique Ryan

Conference Proceedings  |  2016  |  NEUROLOGY

Peripheral Nerve Ultrasound in Children with Dejerine-Sottas Disease

Eppie Yiu, Sanne Hobbelink, Monique Ryan

Conference Proceedings  |  2016  |  NEUROLOGY

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Susan Byrne, Lara Jansen, Jean-Marie U-King-Im, Ata Siddiqui, Hart GW Lidov, Istvan Bodi, Luke Smith, Rachael Mein, Thomas Cullup, Carlo Dionisi-Vici, Lihadh Al-Gazali, Mohammed Al-Owain, Zandre Bruwer, Khalid Al Thihli, Rana El-Garhy, Kevin M Flanigan, Kandamurugu Manickam, Erik Zmuda, Wesley Banks, Ruth Gershoni-Baruch, et al.

Journal article  |  2016  |  Brain

Neurologic Melioidosis: Case Report of a Rare Cause of Acute Flaccid Paralysis

Erik W Andersen, Mark T Mackay, Monique M Ryan

Journal article  |  2016  |  The Journal of Pediatrics

Authors' response to commentary

KL De Valle, ZE Davidson, RA Kennedy, MM Ryan, KM Carroll

Journal article  |  2016  |  Journal of Pediatric Rehabilitation Medicine

Physical activity and the use of standard and complementary therapies in Duchenne and Becker muscular dystrophies

Katy L de Valle, Zoe E Davidson, Rachel A Kennedy, Monique M Ryan, Kate M Carroll

Journal article  |  2016  |  Journal of Pediatric Rehabilitation Medicine

'A short time but a lovely little short time': Bereaved parents' experiences of having a child with spinal muscular atrophy type 1

Emily J Higgs, Belinda J McClaren, Margaret AR Sahhar, Monique M Ryan, Robin Forbes

Journal article  |  2016  |  Journal of Paediatrics and Child Health

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

Emily J Todd, Kyle S Yau, Royston Ong, Jennie Slee, George McGillivray, Christopher P Barnett, Goknur Haliloglu, Beril Talim, Zuhal Akcoren, Ariana Kariminejad, Anita Cairns, Nigel F Clarke, Mary-Louise Freckmann, Norma B Romero, Denise Williams, Caroline A Sewry, Alison Colley, Monique M Ryan, Cathy Kiraly-Borri, Padma Sivadorai, et al.

Journal article  |  2015  |  ORPHANET JOURNAL OF RARE DISEASES

A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy

Siaw H Wong, Belinda J McClaren, Alison Dalton Archibald, Alice Weeks, Tess Langmaid, Monique M Ryan, Andrew Kornberg, Sylvia A Metcalfe

Journal article  |  2015  |  European Journal of Human Genetics

Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study

Luca Bello, Heather Gordish-Dressman, Lauren P Morgenroth, Erik K Henricson, Tina Duong, Eric P Hoffman, Avital Cnaan, Craig M McDonald

Journal article  |  2015  |  Neurology

X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene

Colleen D'Arcy, Voula Kanellakis, Robin Forbes, Brendan Wilding, Meagan McGrath, Katherine Howell, Monique Ryan, Catriona McLean

Journal article  |  2015  |  Journal of Child Neurology

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

Ashley PL Marsh, Vesna Lukic, Kate Pope, Catherine Bromhead, Rick Tankard, Monique M Ryan, Eppie M Yiu, Joe CH Sim, Martin B Delarycki, David J Amor, George McGillivray, Elliott H Sherr, Melanie Bahlo, Richard J Leventer, Paul J Lockhart

Journal article  |  2015  |  NEUROLOGY-GENETICS

A diagnostic approach to recurrent myalgia and rhabdomyolysis in children

Eunice K Chan, Andrew J Kornberg, Monique M Ryan

Journal article  |  2015  |  Archives of Disease in Childhood

An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels

Eppie M Yiu, Geneieve Tai, Roger E Peverill, Katherine J Lee, Kevin D Croft, Trevor A Mori, Barbara Scheiber-Mojdehkar, Brigitte Sturm, Monika Praschberger, Adam P Vogel, Gary Rance, Sarah EM Stephenson, Joseph P Sarsero, Creina Stockley, Chung-Yung J Lee, Andrew Churchyard, Marguerite V Evans-Galea, Monique M Ryan, Paul J Lockhart, Louise A Corben, et al.

Journal article  |  2015  |  JOURNAL OF NEUROLOGY

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

Isabel Marques, Maria Joao sa, Gabriela Soares, Maria do Ceu Mota, Carla Pinheiro, Lisa Aguiar, Marta Amado, Christina Soares, Angelina Calado, Patricia Dias, Ana Berta Sousa, Ana Maria Fortuna, Rosario Santos, Katherine B Howell, Monique M Ryan, Richard J Leventer, Rani Sachdev, Rachael Catford, Kathryn Friend, Tessa R Mattiske, et al.

Journal article  |  2015  |  Molecular Genetics & Genomic Medicine

The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development

Emma Heslop, Cristina Csimma, Volker Straub, John McCall, Kanneboyina Nagaraju, Kathryn R Wagner, Didier Caizergues, Rudolf Korinthenberg, Kevin M Flanigan, Petra Kaufmann, Elizabeth McNeil, Jerry Mendell, Sharon Hesterlee, Dominic J Wells

Journal article  |  2015  |  ORPHANET JOURNAL OF RARE DISEASES

Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study

Luca Bello, Akanchha Kesari, Heather Gordish-Dressman, Avital Cnaan, Lauren P Morgenroth, Jaya Punetha, Tina Duong, Erik K Henricson, Elena Pegoraro, Craig M McDonald, Eric P Hoffman

Journal article  |  2015  |  Annals of Neurology

Strong Correlation Between the 6-Minute Walk Test and Accelerometry Functional Outcomes in Boys With Duchenne Muscular Dystrophy

Zoe E Davidson, Monique M Ryan, Andrew J Kornberg, Karen Z Walker, Helen Truby

Journal article  |  2015  |  Journal of Child Neurology

Peripheral nerve ultrasound in pediatric Charcot-Marie- Tooth disease type 1A

Eppie M Yiu, Cain R Brockley, Katherine J Lee, Kate Carroll, Katy de Valle, Rachel Kennedy, Padma Rao, Martin B Delatycki, Monique M Ryan

Journal article  |  2015  |  NEUROLOGY

Preface to the Second Edition

BT Darras, MM Ryan, DC De Vivo

Book  |  2015

Radiculopathies and Plexopathies

HR Jones, MM Ryan, KH Levin

Book Chapter  |  2015

Introduction: Historical Perspectives

DC De Vivo, BT Darras, MM Ryan, HR Jones

Book  |  2015

Acute Polyneuropathies

HR Jones, PJ Grattan-Smith, MM Ryan

Book Chapter  |  2015

Overview of Pediatric Peripheral Neuropathies

HJ McMillan, MM Ryan

Book Chapter  |  2015

Disorders of the Ocular Motor Cranial Nerves and Extraocular Muscles

MM Ryan, EC Engle

Book Chapter  |  2015

Mononeuropathies

MM Ryan, HR Jones

Book Chapter  |  2015

Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach: Second Edition

BT Darras, HR Jones, MM Ryan, DC De Vivo

Book  |  2014

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

The pathological spectrum of EPG5-related multisystem disorders

S Byrne, I Bodi, C Sewry, HH Goebel, H Lidov, C Dionisi-Vici, RC Rogers, D Manchester, M Al-Owain, E Said, D Pilz, M Ryan, C Marques Lourence, AY Manzur, SA Robb, T Cullup, T Whyte, F Muntoni, M Gautel, H Jungbluth

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

Observations of body mass index in Duchenne muscular dystrophy: a longitudinal study

ZE Davidson, MM Ryan, AJ Kornberg, K Sinclair, A Cairns, KZ Walker, H Truby

Journal article  |  2014  |  European Journal of Clinical Nutrition

COOPERATIVE INTERNATIONAL NEUROMUSCULAR RESEARCH GROUP DUCHENNE NATURAL HISTORY STUDY DEMONSTRATES INSUFFICIENT DIAGNOSIS AND TREATMENT OF CARDIOMYOPATHY IN DUCHENNE MUSCULAR DYSTROPHY

Christopher Spurney, Reiko Shimizu, Lauren P Morgenroth, Hanna Kolski, Heather Gordish-Dressman, Paula R Clemens

Journal article  |  2014  |  Muscle & Nerve

De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

Fan Xia, Matthew N Bainbridge, Tiong Yang Tan, Michael F Wangler, Angela E Scheuerle, Elaine H Zackai, Margaret H Harr, V Reid Sutton, Roopa L Nalam, Wenmiao Zhu, Margot Nash, Monique M Ryan, Joy Yaplito-Lee, Jill V Hunter, Matthew A Deardorff, Samantha J Penney, Arthur L Beaudet, Sharon E Plon, Eric A Boerwinkle, James R Lupski, et al.

Journal article  |  2014  |  American Journal of Human Genetics

Childhood Chronic Inflammatory Demyelinating Polyneuropathy: An Overview of 10 Cases in the Modern Era

Tyson L Ware, Andrew J Kornberg, M Victoria Rodriguez-Casero, Monique M Ryan

Journal article  |  2014  |  Journal of Child Neurology

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

Pediatric Guillain-Barre syndrome

Monique M Ryan

Journal article  |  2013  |  Current Opinion in Pediatrics

Next generation sequencing provides diagnosis for multiple foetal akinesia disorders

EJ Todd, R Ong, C Barnett, J Slee, M Ryan, K Howel, P Sivadorai, MR Davis, RJN Allcock, NG Laing, G Ravenscroft

Conference Proceedings  |  2013  |  Neuromuscular Disorders

High resolution chromosomal microarray in undiagnosed neurological disorders

Katherine B Howell, Andrew J Kornberg, A Simon Harvey, Monique M Ryan, Mark T Mackay, Jeremy L Freeman, M Victoria Rodriguez Casero, Kevin J Collins, Michael Hayman, Ahmad Mohamed, Tyson L Ware, Damian Clark, Damien L Bruno, Trent Burgess, Howard Slater, George McGillivray, Richard J Leventer

Journal article  |  2013  |  Journal of Paediatrics and Child Health

THE 6-MINUTE WALK TEST AND OTHER ENDPOINTS IN DUCHENNE MUSCULAR DYSTROPHY: LONGITUDINAL NATURAL HISTORY OBSERVATIONS OVER 48 WEEKS FROM A MULTICENTER STUDY

Craig M Mcdonald, Erik K Henricson, R Ted Abresch, Julaine M Florence, Michelle Eagle, Eduard Gappmaier, Allan M Glanzman, Robert Spiegel, Jay Barth, Gary Elfring, Allen Reha, Stuart Peltz

Journal article  |  2013  |  Muscle & Nerve

THE 6-MINUTE WALK TEST AND OTHER CLINICAL ENDPOINTS IN DUCHENNE MUSCULAR DYSTROPHY: RELIABILITY, CONCURRENT VALIDITY, AND MINIMAL CLINICALLY IMPORTANT DIFFERENCES FROM A MULTICENTER STUDY

Craig M McDonald, Erik K Henricson, R Ted Abresch, Julaine Florence, Michelle Eagle, Eduard Gappmaier, Allan M Glanzman, Robert Spiegel, Jay Barth, Gary Elfring, Allen Reha, Stuart W Peltz

Journal article  |  2013  |  Muscle & Nerve

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.

Craig M McDonald, Erik K Henricson, R Ted Abresch, Jay J Han, Diana M Escolar, Julaine M Florence, Tina Duong, Adrienne Arrieta, Paula R Clemens, Eric P Hoffman, Avital Cnaan, undefined Cinrg Investigators

Journal article  |  2013  |  Muscle & Nerve

UNLABELLED: Contemporary natural history data in Duchenne muscular dystrophy (DMD) is needed to assess care recommendations and ai..

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.

Erik K Henricson, R Ted Abresch, Avital Cnaan, Fengming Hu, Tina Duong, Adrienne Arrieta, Jay Han, Diana M Escolar, Julaine M Florence, Paula R Clemens, Eric P Hoffman, Craig M McDonald, undefined CINRG Investigators

Journal article  |  2013  |  Muscle & Nerve

UNLABELLED: introduction: Glucocorticoid (GC) therapy in Duchenne muscular dystrophy (DMD) has altered disease progression, necess..

PERIPHERAL NERVE ULTRASOUND IN PAEDIATRIC CHARCOT-MARIE-TOOTH DISEASE TYPE 1A

EM Yiu, C Brockley, K Lee, K Carroll, K De Valle, R Kennedy, P Rao, MM Ryan

Conference Proceedings  |  2013  |  Neurology

CALF CRAMPS IN CHILDREN AND ADULTS WITH AND WITHOUT PERIPHERAL NEUROPATHY ARE INDEPENDENTLY ASSOCIATED WITH NEUROLOGICAL SIGNS AND SYMPTOMS

F Hawke, V Chuter, MM Ryan, RA Ouvrier, J Burns

Conference Proceedings  |  2013  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Juvenile Parkinsonism

Tyson L Ware, Jayasri Srinivasan, Linda Gonzalez, Winita Hardikar, Adam M Scheinberg, Louise Baker, Chidambaram Prakash, Monique M Ryan

Journal article  |  2013  |  Journal of Paediatrics and Child Health

Pediatric Neurology, Part III

MM RYAN

Book Chapter  |  2013

The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. *A ..

A new locus for X-linked dominant CharcotMarieTooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

Marina L Kennerson, Eppie M Yiu, David T Chuang, Aditi Kidambi, Shih-Chia Tso, Carolyn Ly, Rabia Chaudhry, Alexander P Drew, Gary Rance, Martin B Delatycki, Stephan Zuechner, Monique M Ryan, Garth A Nicholson

Journal article  |  2013  |  Human Molecular Genetics

An Open Label Clinical Pilot Study of Resveratrol as a Treatment for Friedreich Ataxia

Eppie Yiu, Geneieve Tai, Roger Peverill, Katherine Lee, Kevin Croft, Trevor Mori, Sarah Stephenson, Paul Lockhart, Joseph Sarsero, Andrew Churchyard, Marguerite Evans-Galea, Monique Ryan, Louise Corben, Martin Delatycki

Conference Proceedings  |  2013  |  NEUROLOGY

A Combination of Linkage Analysis and Exome Sequencing Identifies a New Gene for X-linked Charcot-Marie-Tooth Neuropathy

Marina Kennerson, Eppie Yiu, David Chuang, Aditi Kidambi, Shi-Chia Tso, Carolyn Ly, Rabia Chaudhry, Alexander Drew, Gary Rance, Martin Delatycki, Stephan Zuchner, Monique Ryan, Garth Nicholson

Conference Proceedings  |  2013  |  NEUROLOGY

UTILISING E-TECHNOLOGY, PEER REVIEW FEEDBACK AND REFLECTIVE PRACTICES TO REPOSITION STUDENTS AS RESPONSIBLE PARTNERS IN THEIR OWN LEARNING WITHIN A MASS EDUCATION CONTEXT

Sue Taylor, Mary Ryan, Jon M Pearce

Conference Proceedings  |  2013  |  7TH INTERNATIONAL TECHNOLOGY, EDUCATION AND DEVELOPMENT CONFERENCE (INTED2013)

Neuromuscular complications of intensive care

Ahmad Mohamed, Monique M Ryan

Journal article  |  2013  |  Handbook of Clinical Neurology

Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations

Sabine Rudnik-Schoeneborn, Jan Senderek, Joanna C Jen, Gunnar Houge, Pavel Seeman, Alena Puchmajerova, Luitgard Graul-Neumann, Ulrich Seidel, Rudolf Korinthenberg, Janbernd Kirschner, Juergen Seeger, Monique M Ryan, Francesco Muntoni, Maja Steinlin, Laszlo Sztriha, Jaume Colomer, Christoph Huebner, Knut Brockmann, Lionel Van Maldergem, Manuel Schiff, et al.

Journal article  |  2013  |  Neurology

BINAURAL SPEECH PROCESSING IN INDIVIDUALS WITH AUDITORY NEUROPATHY

G Rance, MM Ryan, P Carew, LA Corben, E Yiu, J Tan, MB Delatycki

Journal article  |  2012  |  Neuroscience

VENLAFAXINE INGESTION IN A 4-YEAR-OLD GIRL

Tyson L Ware, Kate McCloskey, Monique M Ryan, Noel Cranswick

Journal article  |  2012  |  Journal of Paediatrics and Child Health

A combination of linkage analysis and exome sequencing identifies a new gene for X-linked Charcot-Marie-Tooth neuropathy

M Kennerson, E Yiu, D Chuang, S Tso, C Ly, A Kidambi, M Ryan, G Nicholson

Conference Proceedings  |  2012  |  Neuromuscular Disorders

X-linked recessive distal myopathy with hypertrophic cardiomyopathy caused by a novel mutation in the FHL1 gene

CE D'Arcy, V Kanellakis, MM Ryan, CA McLean

Conference Proceedings  |  2012  |  Neuromuscular Disorders

A study of below knee serial casting for calf contracture in ambulant boys with Duchenne muscular dystrophy

R Kennedy, K Carroll, K de Valle, C Tewierik, M Ryan

Conference Proceedings  |  2012  |  Neuromuscular Disorders

The use of standard and complementary therapies in DMD and BMD

K de Valle, K Carroll, R Kennedy, Z Davidson, M Ryan

Conference Proceedings  |  2012  |  Neuromuscular Disorders

Deletions in the dystrophin gene predict loss of ambulation before 10 years of age in boys with Duchenne muscular dystrophy

ZE Davidson, AJ Kornberg, MM Ryan, K Sinclair, A Cairns, KZ Walker, H Truby

Conference Proceedings  |  2012  |  Neuromuscular Disorders

Microarray testing for developmental delay reveals an expanded clinical spectrum of dystrophinopathies

KB Howell, R Forbes, T Burgess, D O'Reilly, D DuSart, B Chong, N Clarke, CA McLean, RJ Leventer, NG Laing, SD Wilton, MM Ryan

Conference Proceedings  |  2012  |  Neuromuscular Disorders

An open label clinical pilot study of resveratrol as a treatment for Friedreich ataxia

EM Yiu, R Peverill, G Tai, C Stockley, J Sarsero, M Evans-Galea, A Churchyard, L Corben, K Lee, MM Ryan, MB Delatycki

Conference Proceedings  |  2012  |  Neuromuscular Disorders

A family with 2 X-linked disorders: Charcot-Marie-Tooth disease and hemophilia A

Nortina Shahrizaila, Khean Jin Goh, Azlina Ahmad-Annuar, Rabia Chaudhry, Carolyn Ly, Monique M Ryan, Garth Nicholson, Marina Kennerson

Journal article  |  2012  |  Muscle & Nerve

Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset

Eppie M Yiu, Monique M Ryan

Journal article  |  2012  |  Journal of the Peripheral Nervous System

Two novel germline KRAS mutations: expanding the molecular and clinical phenotype

Z Stark, G Gillessen-Kaesbach, MM Ryan, IC Cirstea, L Gremer, MR Ahmadian, R Savarirayan, M Zenker

Journal article  |  2012  |  Clinical Genetics

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Sabine Rudnik-Schoeneborn, Manoj P Menezes, Ji Eun Hong, Derek W Leong, Jan Senderek, Michael S Salman, David Chitayat, Pavel Seeman, Arpad von Moers, Luitgard Graul-Neumann, Andrew J Kornberg, Manuel Castro-Gago, Maria-Jesus Sobrido, Masafumi Sanefuji, Perry B Shieh, Noriko Salamon, Ronald C Kim, et al.

Journal article  |  2012  |  Nature Genetics

Auditory function in children with Charcot-Marie-Tooth disease

Gary Rance, Monique M Ryan, Kristen Bayliss, Kathryn Gill, Caitlin O'Sullivan, Marny Whitechurch

Journal article  |  2012  |  Brain

Demyelinating prenatal and infantile developmental neuropathies

Eppie M Yiu, Monique M Ryan

Journal article  |  2012  |  Journal of the Peripheral Nervous System

Pentoxifylline as a rescue treatment for DMD A randomized double-blind clinical trial

DM Escolar, A Zimmerman, T Bertorini, PR Clemens, AM Connolly, L Mesa, K Gorni, A Kornberg, H Kolski, N Kuntz, Y Nevo, C Tesi-Rocha, K Nagaraju, S Rayavarapu, LP Hache, JE Mayhew, J Florence, F Hu, A Arrieta, E Henricson, et al.

Journal article  |  2012  |  Neurology

Autoimmune myasthenia gravis, immunotherapy and thymectomy in children

Tyson L Ware, Monique M Ryan, Andrew J Kornberg

Journal article  |  2012  |  Neuromuscular Disorders

Correlates of calf cramp in children with Charcot-Marie-Tooth disease.

Fiona E Blyton, Monique M Ryan, Robert A Ouvrier, Joshua Burns

Journal article  |  2012  |  Journal of Foot and Ankle Research

Neuromuscular disorders

MM Ryan, AJ Kornberg

Book Chapter  |  2012

Muscle cramp in pediatric Charcot-Marie-Tooth disease type 1A Prevalence and predictors

Fiona Blyton, Monique M Ryan, Robert A Ouvrier, Joshua Burns

Journal article  |  2011  |  Neurology

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

Extended treatment of childhood Charcot-Marie-Tooth disease with high-dose ascorbic acid

Joshua Burns, Robert A Ouvrier, Eppie M Yiu, Monique M Ryan

Journal article  |  2011  |  Journal of the Peripheral Nervous System

FOOT AND ANKLE SYMMETRY IN CHARCOT-MARIE-TOOTH DISEASE

J Burns, R Finkel, T Estilow, A Hiscock, M Laura, P Swingle, A Patzko, A Glanzman, G Acsadi, F Muntoni, MM Reilly, D Pareyson, I Moroni, E Pagliano, S Ramchandren, K Eichinger, M Ryan, RA Ouvrier, R Shy, ME Shy

Conference Proceedings  |  2011  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

DEVELOPMENT, RELIABILITY AND VALIDITY OF THE CHARCOT-MARIE-TOOTH DISEASE PEDIATRIC SCALE (CMTPEDS)

J Burns, R Finkel, T Estilow, A Hiscock, M Laura, P Swingle, A Patzko, A Glanzman, G Acsadi, F Muntoni, MM Reilly, D Pareyson, I Moroni, E Pagliano, S Ramchandren, K Eichinger, M Ryan, RA Ouvrier, R Shy, ME Shy

Conference Proceedings  |  2011  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Netter's Neurology

MM RYAN

Book Chapter  |  2011

Explore specific clinical applications with vignettes included throughout the text that bring each topic to life. Find the informa..

Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy

DM Escolar, LP Hache, PR Clemens, A Cnaan, CM McDonald, V Viswanathan, AJ Kornberg, TE Bertorini, Y Nevo, T Lotze, A Pestronk, MM Ryan, E Monasterio, JW Day, A Zimmerman, A Arrieta, E Henricson, J Mayhew, J Florence, F Hu, et al.

Journal article  |  2011  |  Neurology

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

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

Spontaneous Intracranial Hypotension in Childhood: A Case Report and Review of the Literature

Eunice K Chan, Bernard Yan, Monique M Ryan

Journal article  |  2011  |  Journal of Child Neurology

Carpal Tunnel Syndrome Secondary to Ganglion Cyst in a Child

Ahmad Mohamed, Sarah Rosalie, Kim Taylor, Michelle Fink, Christopher Coombs, Monique Ryan, Andrew Kornberg

Journal article  |  2011  |  Journal of Child Neurology

Pediatric sciatic neuropathies A 30-year prospective study

J Srinivasan, MM Ryan, DM Escolar, B Darras, HR Jones

Journal article  |  2011  |  Neurology

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, M Ryan, F Muntoni, C Boennemann

Conference Proceedings  |  2011  |  Neuromuscular Disorders

PEDIATRIC SCIATIC NEUROPATHY ASSOCIATED WITH NEOPLASMS

Hugh J McMillan, Jayashri Srinivasan, Basil T Darras, Monique M Ryan, James Davis, Hart G Lidov, Deepak Gill, H Royden Jones

Journal article  |  2011  |  Muscle & Nerve

A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood

EM Yiu, N Geevasinga, GA Nicholson, ER Fagan, MM Ryan, RA Ouvrier

Journal article  |  2011  |  Neurology

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

E Pegoraro, EP Hoffman, L Piva, BF Gavassini, S Cagnin, M Ermani, L Bello, G Soraru, B Pacchioni, MD Bonifati, G Lanfranchi, C Angelini, A Kesari, I Lee, H Gordish-Dressman, JM Devaney, CM McDonald

Journal article  |  2011  |  Neurology

Calf cramp in children with Charcot-Marie-Tooth disease: searching for therapeutic targets.

Fiona Hawke, Monique Ryan, Robert Ouvrier, Joshua Burns

Journal article  |  2011  |  Journal of Foot and Ankle Research

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Yasmin Namavar, Peter G Barth, Paul R Kasher, Fred van Ruissen, Knut Brockmann, Guenther Bernert, Karin Writzl, Karen Ventura, Edith Y Cheng, Donna M Ferriero, Lina Basel-Vanagaite, Veerle RC Eggens, Ingeborg Kraegeloh-Mann, Linda De Meirleir, Mary King, John M Graham, Arpad von Moers, Nine Knoers, Laszlo Sztriha, Rudolf Korinthenberg, et al.

Journal article  |  2011  |  Brain

Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS).

Joshua Burns, Richard Finkel, Tim Estilow, Andy Hiscock, Matilde Laura, Polly Swingle, Agnes Patzko, Allan Glanzman, Gyula Acsadi, Francesco Muntoni, Mary Reilly, Davide Pareyson, Isabella Moroni, Emanuela Pagliano, Sindhu Ramchandren, Kate Eichinger, Monique Ryan, Robert Ouvrier, Michael Shy, Rosemary Shy

Journal article  |  2011  |  Journal of Foot and Ankle Research

Neurological disorders affecting the lower limb in children.

Monique Ryan

Journal article  |  2011  |  Journal of Foot and Ankle Research

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

Atypical Silver-Russell Phenotype Resulting From Maternal Uniparental Disomy of Chromosome 7

Zornitza Stark, Monique M Ryan, Damien L Bruno, Trent Burgess, Ravi Savarirayan

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

Neurophysiologic findings in children presenting with pes cavus

Ahmad R Mohamed, M Victoria Rodriguez-Casero, Andrew J Kornberg, Monique M Ryan, Andrew J Kornberg, Monique M Ryan

Journal article  |  2010  |  Journal of the Peripheral Nervous System

Determinants of reduced health-related quality of life in pediatric inherited neuropathies

J Burns, S Ramchandren, MM Ryan, M Shy, RA Ouvrier

Journal article  |  2010  |  Neurology

ATYPICAL CHILDHOOD CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY

Ahmad R Mohamed, M Victoria Rodriguez-Casero, Monique M Ryan

Journal article  |  2010  |  Muscle & Nerve

RANDOMIZED TRIAL OF BOTULINUM TOXIN TO PREVENT PES CAVUS PROGRESSION IN PEDIATRIC CHARCOT-MARIE-TOOTH DISEASE TYPE 1A

Joshua Burns, Adam Scheinberg, Monique M Ryan, Kristy J Rose, Robert A Ouvrier

Journal article  |  2010  |  Muscle & Nerve

Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia

Seo-Kyung Chung, Jean-Francois Vanbellinghen, Jonathan GL Mullins, Angela Robinson, Janina Hantke, Carrie L Hammond, Daniel F Gilbert, Michael Freilinger, Monique Ryan, Michael C Kruer, Amira Masri, Candan Gurses, Colin Ferrie, Kirsten Harvey, Rita Shiang, John Christodoulou, Frederick Andermann, Eva Andermann, Rhys H Thomas, Robert J Harvey, et al.

Journal article  |  2010  |  Journal of Neuroscience

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

Michel A Willemsen, Marcel M Verbeek, Erik-Jan Kamsteeg, Johanneke F de Rijk-van Andel, Alec Aeby, Nenad Blau, Alberto Burlina, Maria A Donati, Ben Geurtz, Padraic J Grattan-Smith, Martin Haeussler, Georg F Hoffmann, Hans Jung, Johannis B de Klerk, Marjo S van der Knaap, Fernando Kok, Vincenzo Leuzzi, Pascale de Lonlay, Andre Megarbane, Hugh Monaghan, et al.

Journal article  |  2010  |  Brain

Quality of Life in Children With Charcot-Marie-Tooth Disease

Joshua Burns, Monique M Ryan, Robert A Ouvrier

Journal article  |  2010  |  Journal of Child Neurology

Inflammatory and Autoimmune Disorders of the Nervous System in Children

MM RYAN

Book Chapter  |  2010

This book provides a detailed and comprehensive summary of thechildhood diseases that are, or are likely to be, caused by theimmun..

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

Respiration-Related Laryngeal Electromyography in Children With Bilateral Vocal Fold Paralysis

Robert G Berkowitz, Monique M Ryan, Paul M Pilowsky

Journal article  |  2009  |  Annals of Otology, Rhinology and Laryngology

Randomised trial of ascorbic add for Charcot-Marie-Tooth disease type 1A in children

J Burns, RA Ouvrier, EM Yiu, PD Joseph, AJ Kornberg, MC Fahey, MM Ryan

Conference Proceedings  |  2009  |  Journal of the Neurological Sciences

Juvenile polymyositis or paediatric muscular dystrophy: a detailed re-analysis of 13 cases

Colleen E D'Arcy, Monique M Ryan, Catriona A McLean

Journal article  |  2009  |  Histopathology

Effect of Oral Curcumin on Dejerine-Sottas Disease

Joshua Burns, Pathma D Joseph, Kristy J Rose, Monique M Ryan, Robert A Ouvrier

Journal article  |  2009  |  Pediatric Neurology

RANDOMIZED TRIAL OF ASCORBIC ACID FOR CMT1A IN CHILDREN

J Burns, MM Ryan, EM Yiu, PD Joseph, AJ Kornberg, MC Fahey, RA Ouvrier

Conference Proceedings  |  2009  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

EFFECT OF ORAL CURCUMIN ON DEJERINE-SOTTAS DISEASE

J Burns, PD Joseph, KJ Rose, SJ Wicks, MM Ryan, RA Ouvrier

Conference Proceedings  |  2009  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

EVOLUTION OF FOOT AND ANKLE MANIFESTATIONS IN CHILDHOOD CMT1A

J Burns, MM Ryan, RA Ouvrier

Conference Proceedings  |  2009  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial

Joshua Burns, Robert A Ouvrier, Eppie M Yiu, Pathma D Joseph, Andrew J Kornberg, Michael C Fahey, Monique M Ryan

Journal article  |  2009  |  The Lancet Neurology

Paralysis and a Perihilar Protuberance: An Unusual Presentation of Sarcoidosis in a Child

Danielle F Wurzel, Daniel P Steinfort, John Massie, Monique M Ryan, Louis B Irving, Sarath C Ranganathan

Journal article  |  2009  |  Pediatric Pulmonology

Acute Transverse Myelitis and Acute Disseminated Encephalomyelitis in Childhood: Spectrum or Separate Entities?

Eppie M Yiu, Andrew J Kornberg, Monique M Ryan, Lee T Coleman, Mark T Mackay

Journal article  |  2009  |  Journal of Child Neurology

EVOLUTION OF FOOT AND ANKLE MANIFESTATIONS IN CHILDREN WITH CMT1A

Joshua Burns, Monique M Ryan, Robert A Ouvrier

Journal article  |  2009  |  Muscle & Nerve

Respiration-related laryngeal electromyography in children with bilateral vocal fold paralysis

RG Berkowitz, MM Ryan, PM Pilowsky

Journal article  |  2009  |  Annals of Otology, Rhinology & Laryngology

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

Current Management of Child Neurology

MM RYAN

Book Chapter  |  2008

Histopathological Findings in Hereditary Motor and Sensory Neuropathy of Axonal Type With Onset in Early Childhood Associated With Mitofusin 2 Mutations

Jean-Michel Vallat, Robert A Ouvrier, John D Pollard, Corinne Magdelaine, Danqing Zhu, Garth A Nicholson, Simon Grew, Monique M Ryan, Benoit Funalot

Journal article  |  2008  |  Journal of Neuropathology & Experimental Neurology

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

Gaining consent for publication in difficult cases involving children

David Isaacs, HA Kilham, S Jacobe, Monique M Ryan, Bernadette Tobin

Journal article  |  2008  |  BMJ (Clinical research ed.)

Gaining consent for publication in difficult cases involving children

D Isaacs, HA Kilham, S Jacobe, MM Ryan, B Tobin

Journal article  |  2008  |  BMJ

Gaining consent for publication in difficult cases involving children

D Isaacs, HA Kilham, S Jacobe, MM Ryan, B Tobin

Journal article  |  2008  |  BMJ

King-Denborough syndrome caused by a novel mutation in the ryanodine receptor gene

CE D'Arcy, A Bjorksten, EM Yiu, A Bankier, R Gillies, CA McLean, LK Shield, MM Ryan

Journal article  |  2008  |  Neurology

Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A

Eppie M Yiu, Joshua Burns, Monique M Ryan, Robert A Ouvrier

Journal article  |  2008  |  Journal of the Peripheral Nervous System

De novo LMNA mutations cause a new form of congenital muscular dystrophy

Susana Quijano-Roy, Blaise Mbieleu, Carsten G Boennemann, Pierre-Yves Jeannet, Jaume Colomer, Nigel F Clarke, Jean-Marie Cuisset, Helen Roper, Linda De Meirleir, Adele D'Amico, Rabah Ben Yaou, Andres Nascimento, Annie Barois, Laurence Demay, Enrico Bertini, Ana Ferreiro, Caroline A Sewry, Norma B Romero, Monique Ryan, Francesco Muntoni, et al.

Journal article  |  2008  |  Annals of Neurology

Pediatric sciatic neuropathies due to unusual vascular causes

Jayashri Srinivasan, Diane Escolar, Monique Ryan, Basil Darras, H Royden Jones

Journal article  |  2008  |  Journal of Child Neurology

Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene

Eppie M Yiu, Sangeeta Ravat, Monique M Ryan, Lloyd K Shield, Lindsay J Smith, Andrew J Kornberg

Journal article  |  2008  |  Muscle & Nerve

Autosomal dominant congenital spinal muscular atrophy - A possible developmental deficiency of motor neurones?

S Reddel, RA Ouvrier, G Nicholson, I Dierick, J Irobi, V Timmerman, MM Ryan

Journal article  |  2008  |  Neuromuscular Disorders

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

Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations

GA Nicholson, C Magdelaine, D Zhu, S Grew, MM Ryan, F Sturtz, J-M Vallat, RA Ouvrier

Journal article  |  2008  |  Neurology

Pre and post-surgical dysphagia outcome associated with posterior fossa tumour in children

Angela Tamsin Morgan, Deborah Sell, Martina Ryan, Elizabeth Raynsford, Richard Hayward

Journal article  |  2008  |  Journal of Neuro-Oncology

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

Inherited myopathies and muscular dystrophies

Michael Cardamone, Basil T Darras, Monique M Ryan

Journal article  |  2008  |  Seminars in Neurology

Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation

Jayasri Srinivasan, Richard J Leventer, Andrew J Kornberg, Henrik H Dahl, Monique M Ryan

Journal article  |  2008  |  Pediatric Neurology

The use of invasive ventilation is appropriate in children with genetically proven spinal muscular atrophy type I: the motion against

Monique M Ryan

Journal article  |  2008  |  Paediatric Respiratory Reviews

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

Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2)

Peter G Barth, Monique M Ryan, Richard I Webster, Eleonora Aronica, Alex Kan, Marja Ramkema, Philip Jardine, Bwee Tien Poll-The

Journal article  |  2008  |  Neuromuscular Disorders

Evolution of foot manifestations in children with Charcot-Marie-Tooth disease.

Joshua Burns, Monique M Ryan, Robert A Ouvrier

Journal article  |  2008  |  Journal of Foot and Ankle Research

Physician attitudes towards ventilatory support for spinal muscular atrophy type 1 in Australasia

Nimeshan Geevasinga, Monique M Ryan

Journal article  |  2007  |  Journal of Paediatrics and Child Health

Concomitant transverse myelitis and acute motor axonal neuropathy in an adolescent

Katherine B Howell, Jithangi Wanigasinghe, Richard J Leventer, Monique M Ryan

Journal article  |  2007  |  Pediatric Neurology

Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene

Marcel M Verbeek, Gerry CH Steenbergen-Spanjers, Michel AAP Willemsen, Frans A Hol, Jan Smeitink, Juergen Seeger, Padraic Grattan-Smith, Monique M Ryan, Georg F Hoffmann, Maria A Donati, Nenad Blau, Ronald A Wevers

Journal article  |  2007  |  Annals of Neurology

King-Denborough syndrome caused by a novel mutation in RYRI

C D'Arcy, L Shield, R Gillies, A Jorksten, C McLean, M Ryan

Conference Proceedings  |  2007  |  Neuromuscular Disorders

Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood

Robert Ouvrier, Nimeshan Geevasingha, Monique M Ryan

Journal article  |  2007  |  Muscle & Nerve

The histopathological findings in HMSN of axonal type commencing in early childhood associated with mitofusin2 mutations

JM Vallat, RA Ouvrier, JD Pollard, C Magdelaine, D Zhu, GA Nicholson, S Grew, F Sturtz, MM Ryan

Conference Proceedings  |  2007  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

HMSN of axonal type commencing in early childhood (EOHMSNA) - From the clinical syndrome to the gene

S Grew, MM Ryan, C Magdelaine, D Zhu, J-M Vallat, F Sturtz, GA Nicholson, RA Ouvrier

Conference Proceedings  |  2007  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

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

Impact of Charcot-Marie-Tooth disease on quality of life in children

J Burns, MM Ryan, RA Ouvrier

Conference Proceedings  |  2007  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Induced dystrophin exon skipping in human muscle explants

Abbie M Adams, Graham McClorey, Hong M Moulton, Patrick L Iversen, John E Rasko, Monique Ryan, Sue Fletcher, Steve D Wilton

Conference Proceedings  |  2007  |  JOURNAL OF GENE MEDICINE

Establishment of the Australasian paediatric Charcot-Marie-Tooth disease registry

Joshua Burns, Robert A Ouvrier, Garth A Nicholson, Monique M Ryan

Journal article  |  2007  |  Neuromuscular Disorders

Spinal muscular atrophy type 1: Is long-term mechanical ventilation ethical?

Monique M Ryan, Henry Kilham, Stephen Jacobe, Bernadette Tobin, David Isaacs

Journal article  |  2007  |  Journal of Paediatrics and Child Health

Peripheral neuropathy in cardiofaciocutaneous syndrome

Steven T DeRoos, Monique M Ryan, Robert A Ouvrier

Journal article  |  2007  |  Pediatric Neurology

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

Interventions for the prevention and treatment of pes cavus

J Burns, KB Landorf, MM Ryan, J Crosbie, RA Ouvrier

Journal article  |  2007  |  Cochrane Database of Systematic Reviews

Critical illness polynenropathy and myopathy in pediatric intensive care: A review

Stephen Williams, Iain A Horrocks, Robert A Ouvrier, Jonathan Gillis, Monique M Ryan

Journal article  |  2007  |  Pediatric Critical Care Medicine

OBJECTIVE: To review the medical literature on critical illness polyneuropathy and myopathy in childhood. DATA SOURCE: Medline and..

Autonomic Testing in Childhood

MM Ryan, TM Burns, NL Kuntz

Book Chapter  |  2006

Induced dystrophin exon skipping in human muscle explants

G McClorey, AM Fall, HM Moulton, PL Iversen, JE Rasko, M Ryan, S Fletcher, SD Wilton

Journal article  |  2006  |  Neuromuscular Disorders

Inhaled corticosteroids, adrenal suppression and benign intracranial hypertension

Patrick Patradoon-Ho, Hasantha Gunasekera, Monique M Ryan, Geoffrey R Ambler

Journal article  |  2006  |  Medical Journal of Australia

Juvenile Huntington disease

Nimeshan Geevasinga, Fiona H Richards, Kristi J Jones, Monique M Ryan

Journal article  |  2006  |  Journal of Paediatrics and Child Health

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

Peripheral Neuropathies in Infants and Children: Polyneuropathies, Mononeuropathies, Plexopathies, and Radiculopathies

TM Burns, MM Ryan, BT Darras, HR Jones

Book Chapter  |  2005

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

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

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

The pharyngeal-cervical-brachial form of Guillain-Barre syndrome in childhood

KD Mogale, JH Antony, MM Ryan

Journal article  |  2005  |  Pediatric Neurology

Guillain-Barre syndrome in childhood

MM Ryan

Journal article  |  2005  |  Journal of Paediatrics and Child Health

The Guillain-Barré syndrome (GBS) is characterized by the acute onset of rapidly progressive, symmetric muscle weakness with absen..

CMTX mimicking childhood chronic inflammatory demyelinating neuropathy with tremor

MM Ryan, HR Jones

Journal article  |  2005  |  Muscle & Nerve

Hereditary peripheral neuropathies of childhood

MM Ryan, R Ouvrier

Journal article  |  2005  |  Current Opinion in Neurology

PURPOSE OF REVIEW: The purpose of this review is to assist neurologists, paediatricians and other interested readers in following ..

Thalidomide neuropathy in childhood

FJ Fleming, M Vytopil, J Chaitow, HR Jones, BT Darras, MM Ryan

Journal article  |  2005  |  Neuromuscular Disorders

Treatment of peripheral neuropathies

R Ouvrier, MM Ryan, A Redmond

Book Chapter  |  2005

Congenital myopathies

MM Ryan, KN North

Book Chapter  |  2005

Myasthenia gravis and premature ovarian failure

MM Ryan, HR Jones

Journal article  |  2004  |  Muscle & Nerve

Delayed neurophysiologic abnormalities in Charcot-Marie-Tooth disease type 1A

MM Ryan, HR Jones

Journal article  |  2004  |  Muscle & Nerve

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations

PB Agrawal, CD Strickland, C Midgett, A Morales, DE Newburger, MA Poulos, KK Tomczak, MM Ryan, ST Iannaccone, TO Crawford, NG Laing, MH Beggs

Journal article  |  2004  |  Annals of Neurology

Anterior spinal cord infarction owing to possible fibrocartilaginous embolism

A Raghavan, E Onikul, MM Ryan, K Prelog, A Taranath, M Chennapragada

Journal article  |  2004  |  Pediatric Radiology

Diagnosing peroneal neuropathy: the quest for the golden fleece.

Levent Ozçakar, Zeynep Birsin Ozçakar

Journal article  |  2004  |  Pediatric Neurology

Paediatric mononeuritis multiplex: a report of three cases and review of the literature.

Monique M Ryan, Ann Tilton, Umberto De Girolami, Basil T Darras, H Royden Jones

Journal article  |  2003  |  Neuromuscular Disorders

Mononeuritis multiplex results from disease processes causing multifocal injury to the peripheral nerves, with or without involvem..

Current therapeutic strategies for patients with polyneuropathies secondary to inherited metabolic disorders

TM Burns, MM Ryan, B Darras, HR Jones

Journal article  |  2003  |  Mayo Clinic Proceedings

Supportive care, symptomatic treatment, and patient education should be provided for patients with inherited or acquired polyneuro..

Peroneal neuropathy from ankle-foot orthoses

MM Ryan, BT Darras, JS Soul

Journal article  |  2003  |  Pediatric Neurology

Acute ataxia in childhood

MM Ryan, EC Engle

Journal article  |  2003  |  Journal of Child Neurology

Acute childhood ataxia is a common cause of presentation to the pediatric emergency room or child neurologist. The primary concern..

Peripheral neuropathy in pediatric systemic lupus erythematosus

M Ryan

Journal article  |  2003  |  Pediatric Neurology

Clinical course correlates poorly with muscle pathology in nemaline myopathy

MM Ryan, B Ilkovski, CD Strickland, C Schnell, D Sanoudou, C Midgett, R Houston, D Muirhead, X Dermett, LK Shield, U De Girolami, ST Iannaccone, NG Laing, KN North, AH Beggs

Journal article  |  2003  |  Neurology

Homocystinuria presenting as psychosis in an adolescent

MM Ryan, RK Sidhu, J Alexander, IT Megerian

Journal article  |  2002  |  Journal of Child Neurology

Homocystinuria usually presents with ectopia lentis, mental retardation, thromboembolic complications, and skeletal abnormalities...

Pathological findings in nemaline myopathy

MM Ryan, B Ilkovski, CD Strickland, C Schnell, LK Shield, U De Girolami, ST Iannaccone, NG Laing, KN North, AH Beggs

Conference Proceedings  |  2002  |  ANNALS OF NEUROLOGY

Genotype-phenotype correlation in nemaline myopathy.

MM Ryan, C Schnell, CD Strickland, LK Shield, G Morgan, ST Iannaccone, NG Laing, KN North, AH Beggs

Journal article  |  2001  |  AMERICAN JOURNAL OF HUMAN GENETICS

Nemaline myopathy: A clinical study of 143 cases

MM Ryan, C Schnell, CD Strickland, LK Shield, G Morgan, ST Iannaccone, NG Laing, AH Beggs, KN North

Journal article  |  2001  |  Annals of Neurology

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene

B Ilkovski, ST Cooper, K Nowak, MM Ryan, N Yang, C Schnell, HJ Durling, LG Roddick, I Wilkinson, AJ Kornberg, KJ Collins, G Wallace, P Gunning, EC Hardeman, NG Laing, KN North

Journal article  |  2001  |  American Journal of Human Genetics

Anterior horn cell disease and olivopontocerebellar hypoplasia

MM Ryan, CM Cooke-Yarborough, PG Procopis, RA Ouvrier

Journal article  |  2000  |  Pediatric Neurology

To date, fewer than 30 cases of anterior horn cell disease with associated olivopontocerebellar hypoplasia have been reported. We ..

Childhood chronic inflammatory demyelinating polyneuropathy: clinical course and long-term outcome

MM Ryan, PJ Grattan-Smith, PG Procopis, G Morgan, RA Ouvrier

Journal article  |  2000  |  Neuromuscular Disorders

We reviewed the clinical history, electrophysiologic and pathologic findings, and response to therapy of 16 children with chronic ..

Persistent or severe back pain and stiffness are ominous symptoms requiring prompt attention

PJ Grattan-Smith, MM Ryan, PG Procopis

Journal article  |  2000  |  Journal of Paediatrics and Child Health

BACKGROUND: Children with severe or persistent back pain and stiffness often have an underlying organic cause but there is a large..

Sydenham's chorea: a resurgence in the 1990s?

M Ryan, JH Antony, PJ Grattan-Smith

Journal article  |  2000  |  Journal of Paediatrics and Child Health

Cerebral vasculitis in a case of Sydenham's chorea

MM Ryan, JH Antony

Journal article  |  1999  |  Journal of Child Neurology

A 10-year-old girl with acute-onset hemichorea had multiple areas of abnormal signal seen on magnetic resonance imaging of the bra..

A novel syndrome of episodic muscle weakness maps to Xp22.3

MM Ryan, P Taylor, JA Donald, G Morgan, G Danta, MF Buckley, KN North

Journal article  |  1999  |  American Journal of Human Genetics

Influenza A encephalitis with movement disorder

MM Ryan, PG Procopis, RA Ouvrier

Journal article  |  1999  |  Pediatric Neurology

Influenza A is an uncommon but well-recognized cause of viral encephalitis in childhood, occurring most commonly during community ..

Ipecac--a substance of abuse.

C Cooper, H Kilham, M Ryan

Journal article  |  1998  |  Medical Journal of Australia