Monique Ryan

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..

Energy metabolism and mitochondrial defects in patient iPSC-derived motor neurons with the CMTX6-causative PDK3 mutation

Gonzalo Perez Siles, Anthony Cutrupi, Motonari Uesugi, Byung-Ok Choi, Monique Ryan, Marina Kennerson

Conference Proceedings  |  2020  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

pediatric Charcot-Marie-tooth disease clinical practice guideline

Eppie Yiu, Joshua Burns, Paula Bray, Manoj Menezes, Monique Ryan

Conference Proceedings  |  2020  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

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..

Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.

Simona Balestrini, Mohamad A Mikati, Reyes Álvarez-García-Rovés, Michael Carboni, Arsen S Hunanyan, Bassil Kherallah, Melissa McLean, Lyndsey Prange, Elisa De Grandis, Alessandra Gagliardi, Livia Pisciotta, Michela Stagnaro, Edvige Veneselli, Jaume Campistol, Carmen Fons, Leticia Pias-Peleteiro, Allison Brashear, Charlotte Miller, Raquel Samões, Vesna Brankovic, et al.

Journal article  |  2020  |  Neurology

OBJECTIVE: To define the risks and consequences of cardiac abnormalities in ATP1A3-related syndromes. METHODS: Patients meeting cl..

Involving families in the design of a weight management program for Duchenne muscular dystrophy - Supporting nutrition and optimising wellbeing program

N Billich, P Bray, H Truby, M Evans, B Sowerby, K de Valle, K Carroll, D Villano, M Ryan, Z Davidson

Conference Proceedings  |  2020  |  Neuromuscular Disorders

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Paige B Martin, Yu Kigoshi-Tansho, Roger B Sher, Gianina Ravenscroft, Jennifer E Stauffer, Rajesh Kumar, Ryo Yonashiro, Tina Mueller, Christopher Griffith, William Allen, Davut Pehlivan, Tamar Harel, Martin Zenker, Denise Howting, Denny Schanze, Eissa A Faqeih, Naif AM Almontashiri, Reza Maroofian, Henry Houlden, Neda Mazaheri, et al.

Journal article  |  2020  |  Nature Communications

A hallmark of neurodegeneration is defective protein quality control. The E3 ligase Listerin (LTN1/Ltn1) acts in a specialized pro..

Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study

Edward C Smith, Laurie S Conklin, Eric P Hoffman, Paula R Clemens, Jean K Mah, Richard S Finkel, Michela Guglieri, Mar Tulinius, Yoram Nevo, Monique M Ryan, Richard Webster, Diana Castro, Nancy L Kuntz, Laurie Kerchner, Lauren P Morgenroth, Adrienne Arrieta, Maya Shimony, Mark Jaros, Phil Shale, Heather Gordish-Dressman, et al.

Journal article  |  2020  |  PLoS Medicine

BACKGROUND: Treatment with corticosteroids is recommended for Duchenne muscular dystrophy (DMD) patients to slow the progression o..

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  |  2020  |  European Journal of Human Genetics

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

Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy

Craig Campbell, Richard J Barohn, Enrico Bertini, Brigitte Chabrol, Giacomo Pietro Comi, Basil T Darras, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Susan T Iannaccone, Kristi J Jones, Janbernd Kirschner, Jean K Mah, Katherine D Mathews, Craig M McDonald, Eugenio Mercuri, Yoram Nevo, Yann Pereon, J Ben Renfroe, Monique M Ryan, et al.

Journal article  |  2020  |  Journal of Comparative Effectiveness Research