Monique Ryan

Correlation between whole body muscle MRI and functional measures in paediatric patients with facioscapulohumeral muscular dystrophy.

Ian R Woodcock, Katy de Valle, Nisha Varma, Michael Kean, Monique M Ryan

Journal article  |  2023  |  Neuromuscul Disord

Symptoms and severity of facioscapulohumeral muscular dystrophy (FSHD) can vary greatly, even within the same family. Clinical tri..

Fracture risk and impact in boys with Duchenne muscular dystrophy: A retrospective cohort study.

Joshua Liaw, Natassja Billich, Kate Carroll, Justine Adams, Monique M Ryan, Eppie M Yiu, Margaret Zacharin, Peter Simm, Zoe E Davidson

Journal article  |  2022  |  Muscle Nerve

INTRODUCTION/AIMS: Boys with Duchenne muscular dystrophy (DMD) are at increased risk of fracture. This study investigated the inci..

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Dianalee McKnight, Ana Morales, Kathryn E Hatchell, Sara L Bristow, Joshua L Bonkowsky, Michael Scott Perry, Anne T Berg, Felippe Borlot, Edward D Esplin, Chad Moretz, Katie Angione, Loreto Ríos-Pohl, Robert L Nussbaum, Swaroop Aradhya, undefined ELEVIATE Consortium, Chad R Haldeman-Englert, Rebecca J Levy, Venu G Parachuri, Guillermo Lay-Son, David J Dávila-Ortiz de Montellano, et al.

Journal article  |  2022  |  JAMA Neurol

IMPORTANCE: It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated..

Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.

Michela Guglieri, Paula R Clemens, Seth J Perlman, Edward C Smith, Iain Horrocks, Richard S Finkel, Jean K Mah, Nicolas Deconinck, Nathalie Goemans, Jana Haberlova, Volker Straub, Laurel J Mengle-Gaw, Benjamin D Schwartz, Amy D Harper, Perry B Shieh, Liesbeth De Waele, Diana Castro, Michelle L Yang, Monique M Ryan, Craig M McDonald, et al.

Journal article  |  2022  |  JAMA Neurol

IMPORTANCE: Corticosteroidal anti-inflammatory drugs are widely prescribed but long-term use shows adverse effects that detract fr..

P.133 Daily regimens of prednisone, deflazacort and vamorolone improve motor function similarly in patients with Duchenne muscular dystrophy

C McDonald, E Henricson, M Leinonen, A Linden, M Guglieri, P Clemens, R Griggs, P Shieh, S Horrocks, J Mah, R Finkel, N Goemans, V Straub, M Ryan, H McMillan, S Spinty, E Hoffman

Journal article  |  2022  |  Neuromuscular Disorders

FP.22 Results from the end of Part A of the ongoing 3-part DEVOTE study to explore higher doses of nusinersen in SMA

J Day, R Finkel, S Pascual, M Ryan, E Mercuri, D De Vivo, J Montes, J Gurgel-Giannetti, G Gambino, C Makepeace, R Foster, V Irzhevsky, Z Berger

Journal article  |  2022  |  Neuromuscular Disorders

VP.51 Impact of nusinersen on caregiver experience and health-related quality of life (HRQoL) when initiated in the presymptomatic stage of SMA in NURTURE

J Kirschner, T Crawford, M Ryan, R Finkel, K Swoboda, D De Vivo, E Bertini, H Hwu, V Sansone, A Pechmann, J Montes, D Krasinski, R Chin, Z Berger, C Zhu, S Raynaud, A Paradis, N Johnson

Journal article  |  2022  |  Neuromuscular Disorders

Rituximab in juvenile myasthenia gravis-an international cohort study and literature review.

Sithara Ramdas, Adela Della Marina, Monique M Ryan, Kenneth McWilliam, Andrea Klein, David Jacquier, Setareh Alabaf, Anne-Marie Childs, Deepak Parasuraman, David Beeson, Jacqueline Palace, Heinz Jungbluth

Journal article  |  2022  |  Eur J Paediatr Neurol

Juvenile myasthenia gravis (JMG) is a rare, antibody-mediated disorder of the neuromuscular junction. Treatment strategies in JMG ..

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

Natassja Billich, Justine Adams, Kate Carroll, Helen Truby, Maureen Evans, Monique M Ryan, Zoe E Davidson

Journal article  |  2022  |  Nutrients

BACKGROUND: Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disorder. Young people with DMD have high rates o..

Scientific rationale for a higher dose of nusinersen.

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

Journal article  |  2022  |  Ann Clin Transl Neurol

OBJECTIVE: The long-term favorable safety profile of nusinersen provides an opportunity to consider a higher dose. We report on th..