Monique Ryan

Gene therapy for neuromuscular disorders: prospects and ethics.

Monique M Ryan

Journal article  |  2021  |  Arch Dis Child

Most childhood neuromuscular disorders are caused by mutations causing abnormal expression or regulation of single genes or geneti..

Reliability and validity of the FSHD-composite outcome measure in childhood facioscapulohumeral dystrophy

K de Valle, F Dobson, I Woodcock, K Carroll, MM Ryan, C Heatwole, K Eichinger, JL McGinley

Journal article  |  2021  |  NEUROMUSCULAR DISORDERS

This study aims to investigate intra-rater reliability and construct validity of the Facioscapulohumeral Dystrophy Composite Outco..

Effect of a multicomponent nutritional supplement on functional outcomes for Duchenne muscular dystrophy: A randomized controlled trial

Zoe E Davidson, Ian Hughes, Monique M Ryan, Andrew J Kornberg, Anita G Cairns, Kristi Jones, Meghan Hutchence, Hugo Sampaio, Margot Morrison, Helen Truby

Journal article  |  2021  |  CLINICAL NUTRITION

BACKGROUND & AIMS: Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular condition causing progressive muscle weakness an..

Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient

Peter J Houweling, Chantal A Coles, Chrystal F Tiong, Bridget Nielsen, Alison Graham, Penny McDonald, Annabelle Suter, Adam T Piers, Robin Forbes, Monique M Ryan, Sara E Howden, Shireen R Lamande, Kathryn N North

Journal article  |  2021  |  STEM CELL RESEARCH

To produce an in vitro model of nemaline myopathy, we reprogrammed the peripheral blood mononuclear cells (PBMCs) of a patient wit..

Development of clinical practice guidelines for allied health and nursing assessment and management of Duchenne muscular dystrophy

ZE Davidson, P Bray, K Rose, MJ Rodrigues, L Corben, KN North, MM Ryan, J Burns

Journal article  |  2021  |  DISABILITY AND REHABILITATION

PURPOSE: To provide evidence-based guidance specific to allied health and nursing practice for the assessment and management of in..

Paediatric Code Stroke

Elliot Long, Jarel TS Saw, Conor Davis, Cam Morgan, Bennett Sheridan, Paul Monagle, Monique M Ryan, Emma Macdonald-Laurs, Mark T Mackay

Journal article  |  2021  |  JOURNAL OF PAEDIATRICS AND CHILD HEALTH

The severe epilepsy syndromes of infancy: A population-based study

Katherine B Howell, Jeremy L Freeman, Mark T Mackay, Michael C Fahey, John Archer, Samuel F Berkovic, Eunice Chan, Gabriel Dabscheck, Stefanie Eggers, Michael Hayman, James Holberton, Rodney W Hunt, Susan E Jacobs, Andrew J Kornberg, Richard J Leventer, Simone Mandelstam, Jacinta M McMahon, Heather C Mefford, Julie Panetta, Jessica Riseley, et al.

Journal article  |  2021  |  EPILEPSIA

OBJECTIVE: To study the epilepsy syndromes among the severe epilepsies of infancy and assess their incidence, etiologies, and outc..

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

Samantha J Bryen, Emily C Oates, Frances J Evesson, Jessica K Lu, Leigh B Waddell, Himanshu Joshi, Monique M Ryan, Beryl B Cummings, Catriona A McLean, Daniel G MacArthur, Andrew J Kornberg, Sandra T Cooper

Journal article  |  2021  |  European Journal of Human Genetics

X-linked myotubular myopathy (XLMTM) is a severe congenital myopathy characterised by generalised weakness and respiratory insuffi..

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..

Multi-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral Dystrophy

Christopher R Heier, Aiping Zhang, Nhu Y Nguyen, Christopher B Tully, Aswini Panigrahi, Heather Gordish-Dressman, Sachchida Nand Pandey, Michela Guglieri, Monique M Ryan, Paula R Clemens, Mathula Thangarajh, Richard Webster, Edward C Smith, Anne M Connolly, Craig M McDonald, Peter Karachunski, Mar Tulinius, Amy Harper, Jean K Mah, Alyson A Fiorillo, et al.

Journal article  |  2020  |  JOURNAL OF PERSONALIZED MEDICINE

The development of therapeutics for muscle diseases such as facioscapulohumeral dystrophy (FSHD) is impeded by a lack of objective..