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

Results: 15

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
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
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
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
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
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
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