Peripheral nerve disease secondary to systemic conditions in children

by Jo M. Wilmshurst, Robert A. Ouvrier, Monique M. Ryan
Published 2019-08-01

The Relationship between Obesity and Clinical Outcomes in Young People with Duchenne Muscular Dystrophy

by Natassja Billich, Justine Adams, Kate Carroll, Helen Truby, Maureen Evans, Monique M. Ryan, Zoe E. Davidson
Published 2022-08-01

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

by Didu S. T. Kariyawasam, Didu S. T. Kariyawasam, Arlene D'Silva, Cindy Lin, Monique M. Ryan, Michelle A. Farrar, Michelle A. Farrar
Published 2019-08-01

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

by Rachel A Kennedy, Kate Carroll, Kade L Paterson, Monique M Ryan, Joshua Burns, Kristy Rose, Jennifer L McGinley
Published 2019-01-01

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

by 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
Published 2016-10-01

Scientific rationale for a higher dose of nusinersen

by Richard S. Finkel, Monique M. Ryan, Samuel Ignacio Pascual Pascual, John W. Day, Eugenio Mercuri, Darryl C. De Vivo, Richard Foster, Jacqueline Montes, Juliana Gurgel‐Giannetti, Drew MacCannell, Zdenek Berger
Published 2022-06-01

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

by 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. Lamandé, Kathryn N. North
Published 2021-07-01

Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy

by Arlene M. D'Silva, Sandra Holland, Didu Kariyawasam, Karen Herbert, Peter Barclay, Anita Cairns, Suzanna C. MacLennan, Monique M. Ryan, Hugo Sampaio, Nicholas Smith, Ian R. Woodcock, Eppie M. Yiu, Ian E. Alexander, Michelle A. Farrar
Published 2022-03-01

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

by 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
Published 2016-07-01

Neurofilament as a potential biomarker for spinal muscular atrophy

by 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
Published 2019-05-01

The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy

by Francesco Muntoni, Barry J. Byrne, Hugh J. McMillan, Monique M. Ryan, Brenda L. Wong, Juergen Dukart, Amita Bansal, Valerie Cosson, Roxana Dreghici, Maitea Guridi, Michael Rabbia, Hannah Staunton, Giridhar S. Tirucherai, Karl Yen, Xiling Yuan, Kathryn R. Wagner, the Taldefgrobep Alfa Study Group
Published 2024-01-01

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

by Ronan V. da Silva, Helge C. Johannssen, Matthias T. Wyss, R. Brian Roome, Farin B. Bourojeni, Nicolas Stifani, Ashley P.L. Marsh, Monique M. Ryan, Paul J. Lockhart, Richard J. Leventer, Linda J. Richards, Bernard Rosenblatt, Myriam Srour, Bruno Weber, Hanns Ulrich Zeilhofer, Artur Kania
Published 2018-01-01

A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice

by Ian R. Woodcock, George Tachas, Nuket Desem, Peter J. Houweling, Michael Kean, Jaiman Emmanuel, Rachel Kennedy, Kate Carroll, Katy de Valle, Justine Adams, Shireen R. Lamandé, Chantal Coles, Chrystal Tiong, Matthew Burton, Daniella Villano, Peter Button, Jean-Yves Hogrel, Sarah Catling-Seyffer, Monique M. Ryan, Martin B. Delatycki, Eppie M. Yiu
Published 2024-01-01

Aicardi Syndrome Is a Genetically Heterogeneous Disorder

by Thuong T. Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A. Mandelstam, Alison E. Gardner, Atma M. Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith, Chirag Patel, Stephen Malone, Monique M. Ryan, Sophie Calvert, Clare L. van Eyk, Michael Lardelli, Samuel F. Berkovic, Richard J. Leventer, Linda J. Richards, Ingrid E. Scheffer, Jozef Gecz, Mark A. Corbett
Published 2023-07-01

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

by 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, Yi-Wen Chen, Cooperative International Neuromuscular Research Group (CINRG) Investigators
Published 2020-11-01

Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

by Nicole J. Van Bergen, Daniella H. Hock, Lucy Spencer, Sean Massey, Tegan Stait, Zornitza Stark, Sebastian Lunke, Ain Roesley, Heidi Peters, Joy Yaplito Lee, Anna Le Fevre, Oliver Heath, Cristina Mignone, Joseph Yuan-Mou Yang, Monique M. Ryan, Colleen D’Arcy, Margot Nash, Sile Smith, Nikeisha J. Caruana, David R. Thorburn, David A. Stroud, Susan M. White, John Christodoulou, Natasha J. Brown
Published 2022-01-01

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

by 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, Laura Hagerty, Utkarsh J Dang, Jesse M Damsker, Benjamin D Schwartz, Laurel J Mengle-Gaw, Craig M McDonald, CINRG VBP15 and DNHS Investigators
Published 2020-09-01

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

by Rhett G. Marchant, Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett, Mark R. Davis, Vijay S. Ganesh, Roula Ghaoui, Kristi J. Jones, Andrew J. Kornberg, Monkol Lek, Christina Liang, Daniel G. MacArthur, Emily C. Oates, Anne O'Donnell‐Luria, Gina L. O'Grady, Ikeoluwa A. Osei‐Owusu, Haloom Rafehi, Stephen W. Reddel, Richard H. Roxburgh, Monique M. Ryan, Sarah A. Sandaradura, Liam W. Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J. Evesson, Leigh B. Waddell, Sandra T. Cooper
Published 2024-05-01