Works matching IS 22143599 AND DT 2023 AND VI 10 AND IP 3

Results: 15

Psychometric Characteristics of the Motor Function Measure in Neuromuscular Diseases: A Systematic Review<sup>1</sup>.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 301, doi. 10.3233/JND-230001

By:

Ribault, Shams;
Rippert, Pascal;
Jain, Minal;
Le Goff, Laure;
Genod, Dominique Vincent;
Barriere, Aurélie;
Berruyer, Anne;
Garde, Camille;
Tinat, Marie;
Pons, Christelle;
Vuillerot, Carole

Publication type:

Article

Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 449, doi. 10.3233/JND-221675

By:

Cheli, Marta;
Brugnoni, Raffaella;
Gibertini, Sara;
Mantegazza, Renato;
Maggi, Lorenzo

Publication type:

Article

A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 459, doi. 10.3233/JND-221669

By:

Takahashi, Yoshiaki;
Morimoto, Nobutoshi;
Nada, Tomoaki;
Morimoto, Mizuki;
Eura, Nobuyuki;
Minami, Narihiro;
Nishino, Ichizo

Publication type:

Article

Efficacy and Safety of Viltolarsen in Boys With Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 439, doi. 10.3233/JND-221656

By:

Clemens, Paula R.;
Rao, Vamshi K.;
Connolly, Anne M.;
Harper, Amy D.;
Mah, Jean K.;
McDonald, Craig M.;
Smith, Edward C.;
Zaidman, Craig M.;
Nakagawa, Tomoyuki;
Hoffman, Eric P.

Publication type:

Article

Central Bradypnea and Ataxic Breathing in Myotonic Dystrophy Type 1 – A Clinical Case Report.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 465, doi. 10.3233/JND-221652

By:

Summ, Oliver;
Mathys, Christian;
Grimm, Teresa;
Groß, Martin

Publication type:

Article

The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 315, doi. 10.3233/JND-221648

By:

Aartsma-Rus, Annemieke;
De Waele, Liesbeth;
Houwen-Opstal, Saskia;
Kirschner, Janbernd;
Krom, Yvonne D.;
Mercuri, Eugenio;
Niks, Erik H.;
Straub, Volker;
van Duyvenvoorde, Hermine A.;
Vroom, Elizabeth

Publication type:

Article

Swallowing Problems in Spinal Muscular Atrophy Types 2 and 3: A Clinical, Videofluoroscopic and Ultrasound Study.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 427, doi. 10.3233/JND-221640

By:

van der Heul, A.M.B.;
Nievelstein, R.A.J.;
van Eijk, R.P.A.;
Asselman, F.;
Erasmus, C.E.;
Cuppen, I.;
Bittermann, A.J.N.;
Gerrits, E.;
van der Pol, W.L.;
van den Engel-Hoek, L.

Publication type:

Article

Meeting Report: 2022 Muscular Dystrophy Association Summit on 'Safety and Challenges in Gene Transfer Therapy'.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 327, doi. 10.3233/JND-221639

By:

Lek, Angela;
Atas, Evrim;
Hesterlee, Sharon E.;
Byrne, Barry J.;
Bönnemann, Carsten G.

Publication type:

Article

Facioscapulohumeral Disease as a myodevelopmental disease: Applying Ockham's razor to its various features.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 411, doi. 10.3233/JND-221624

By:

Padberg, G.W.;
van Engelen, B.G.M.;
Voermans, N.C.

Publication type:

Article

Oculomotor Dysfunction in Motor Neuron Disease.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 405, doi. 10.3233/JND-221579

By:

Youn, Clover E.;
Lu, Christine;
Cauchi, Jonathan;
MacGowan, Daniel;
Morgenstern, Rachelle;
Scelsa, Stephen

Publication type:

Article

Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG).

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 389, doi. 10.3233/JND-221560

By:

Finkel, Richard S.;
Darras, Basil T.;
Mendell, Jerry R.;
Day, John W.;
Kuntz, Nancy L.;
Connolly, Anne M.;
Zaidman, Craig M.;
Crawford, Thomas O.;
Butterfield, Russell J.;
Shieh, Perry B.;
Tennekoon, Gihan;
Brandsema, John F.;
Iannaccone, Susan T.;
Shoffner, John;
Kavanagh, Sarah;
Macek, Thomas A.;
Tauscher-Wisniewski, Sitra

Publication type:

Article

Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 381, doi. 10.3233/JND-221552

By:

Lake, Nicole J.;
Phua, Joel;
Liu, Wei;
Moors, Tristen;
Axon, Steven;
Lek, Monkol

Publication type:

Article

The Muscular Dystrophy Association's neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 365, doi. 10.3233/JND-221551

By:

Kilroy, Elisabeth A;
Burris, Rachael;
Javelosa, Edritz;
Waits, Jessica;
Lek, Angela;
Rodgers, Rayne;
Opgenorth, Hayley;
Hesterlee, Sharon

Publication type:

Article

Modeling Early Heterogeneous Rates of Progression in Boys with Duchenne Muscular Dystrophy.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 349, doi. 10.3233/JND-221527

By:

Fang, Yuan;
McDonald, Craig M.;
Clemens, Paula R.;
Gordish, Heather-Dressman;
Illei, Kate;
Hoffman, Eric P.;
Dang, Utkarsh J.

Publication type:

Article

Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 337, doi. 10.3233/JND-221519

By:

Krosschell, Kristin J.;
Brown, Laurey;
Hoffman, Katie;
Zumpf, Katelyn B.;
Munson, Hannah;
Bidwell, Jessa;
Schulte, Duncan P.;
Schwaede, Abigail N.;
Buehner, Amber N.;
DiDonato, Christine J.;
Kuntz, Nancy L.;
Rao, Vamshi K.

Publication type:

Article