Works matching IS 22143599 AND DT 2023 AND VI 10 AND IP 5

Results: 19

Erratum to: Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment.

Published in:

2023

By:

McGrattan, Katlyn E.;
Shell, Richard D.;
Hurst-Davis, Rebecca;
Young, Sally Dunaway;
O'Brien, Eamonn;
Lavrov, Arseniy;
Wallach, Shiri;
LaMarca, Nicole;
Reyna, Sandra P.;
Darras, Basil T.

Publication type:

Correction Notice

Induced Pluripotent Stem Cells for Modeling Physiological and Pathological Striated Muscle Complexity.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 761, doi. 10.3233/JND-230076

By:

Caron, Leslie;
Testa, Stefano;
Magdinier, Frédérique

Publication type:

Article

Determinants and Characterization of Locomotion in Adults with Late-Onset Pompe Disease: New Clinical Biomarkers.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 963, doi. 10.3233/JND-230060

By:

Maulet, Théo;
Cattagni, Thomas;
Dubois, Fabien;
Roche, Nicolas;
Laforet, Pascal;
Bonnyaud, Céline

Publication type:

Article

Age Related Burden of Swallowing in Adult Patients Affected by Duchenne Muscular Dystrophy.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 955, doi. 10.3233/JND-230055

By:

Crescimanno, Grazia;
Greco, Francesca;
Bertini, Manuela;
Maltese, Giacomo;
Marrone, Oreste

Publication type:

Article

Identifying Biomarkers of Spinal Muscular Atrophy for Further Development.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 937, doi. 10.3233/JND-230054

By:

Glascock, Jacqueline;
Darras, Basil T.;
Crawford, Thomas O.;
Sumner, Charlotte J.;
Kolb, Stephen J.;
DiDonato, Christine;
Elsheikh, Bakri;
Howell, Kelly;
Farwell, Wildon;
Valente, Marta;
Petrillo, Marco;
Tingey, Jessica;
Jarecki, Jill

Publication type:

Article

Nerve Conduction Differences in a Large Clinical Population: The Role of Age and Sex.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 925, doi. 10.3233/JND-230052

By:

Shelly, Shahar;
Ramon-Gonen, Roni;
Paul, Pritikanta;
Klein, Christopher J.;
Klang, Eyal;
Rahman, Nisim;
Nikitin, Vera;
Ben David, Merav;
Dori, Amir

Publication type:

Article

Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 915, doi. 10.3233/JND-230046

By:

Öz Tunçer, Gökçen;
Sanri, Aslıhan;
Aydin, Seren;
Hergüner, Özlem M.;
Özgün, Nezir;
Kömür, Mustafa;
İçağasioğlu, Dilara F.;
Toker, Rabia Tütüncü;
Yilmaz, Sanem;
Arslan, Elif Acar;
Güngör, Mesut;
Kutluk, Gültekin;
Erol, İlknur;
Mert, Gülen Gül;
Polat, Burçin Gönüllü;
Aksoy, Ayşe

Publication type:

Article

How is Physical Activity Measured in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy?

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 897, doi. 10.3233/JND-230033

By:

Uher, David;
Yoon, Lisa;
Garber, Carol Ewing;
Montes, Jacqueline

Publication type:

Article

Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 977, doi. 10.3233/JND-230026

By:

Pelin, Katarina;
Sagath, Lydia;
Lehtonen, Johanna;
Kiiski, Kirsi;
Tynninen, Olli;
Paetau, Anders;
Johari, Mridul;
Savarese, Marco;
Wallgren-Pettersson, Carina;
Lehtokari, Vilma-Lotta

Publication type:

Article

Open Bite Malocclusion and Orofacial Dysfunction in Patients with Myotonic Dystrophy Type 1 and Duchenne Muscular Dystrophy.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 885, doi. 10.3233/JND-230025

By:

Havner, Christina;
Roussakis, Anna Ödman;
Sjögreen, Lotta;
Westerlund, Anna

Publication type:

Article

Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 869, doi. 10.3233/JND-230023

By:

Keene, Kevin R.;
Notting, Irene C.;
Verschuuren, Jan J.G.M.;
Voermans, N.;
de Keizer, Ronald. O.B.;
Beenakker, Jan-Willem M.;
Tannemaat, Martijn R.;
Kan, Hermien E.

Publication type:

Article

Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 777, doi. 10.3233/JND-230014

By:

Middelink, Marloes;
Voermans, Nicol C.;
van Engelen, Baziel G.M.;
Janssen, Mirian C.H.;
Groothuis, Jan T.;
Knuijt, Simone;
Zweers-van Essen, Heidi

Publication type:

Article

Sex Difference in Spinal Muscular Atrophy Patients – are Males More Vulnerable?

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 847, doi. 10.3233/JND-230011

By:

Sun, Jianli;
Harrington, Melissa A.;
Porter, Ben

Publication type:

Article

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 835, doi. 10.3233/JND-221668

By:

Kleinle, Stephanie;
Scholz, Veronika;
Benet-Pagés, Anna;
Wohlfrom, Tobias;
Gehling, Stefanie;
Scharf, Florentine;
Rost, Simone;
Prott, Eva-Christina;
Grinzinger, Susanne;
Hotter, Anna;
Haug, Verena;
Niemeier, Sabine;
Wiethoff-Ubrig, Lucia;
Hagenacker, Tim;
Goldhahn, Klaus;
von Moers, Arpad;
Walter, Maggie C.;
Reilich, Peter;
Eggermann, Katja;
Kraft, Florian

Publication type:

Article

DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 813, doi. 10.3233/JND-221667

By:

Finkel, Richard S.;
Day, John W.;
Pascual Pascual, Samuel Ignacio;
Ryan, Monique M.;
Mercuri, Eugenio;
De Vivo, Darryl C.;
Montes, Jacqueline;
Gurgel-Giannetti, Juliana;
Monine, Michael;
Gambino, Giulia;
Makepeace, Corinne;
Foster, Richard;
Berger, Zdenek

Publication type:

Article

Inspiratory Muscle Training in Nemaline Myopathy.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 825, doi. 10.3233/JND-221665

By:

van Kleef, Esmee S.B.;
Langer, Daniel;
van Engelen, Baziel G.M.;
Ottenheijm, Coen A.C.;
Voermans, Nicol C.;
Doorduin, Jonne

Publication type:

Article

Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 731, doi. 10.3233/JND-221646

By:

Pugliese, Alessia;
Holland, Stephen H.;
Rodolico, Carmelo;
Lochmüller, Hanns;
Spendiff, Sally

Publication type:

Article

Standardized Tapering off Subcutaneous Immunoglobulin in Chronic Inflammatory Demyelinating Polyneuropathy.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 787, doi. 10.3233/JND-221615

By:

Markvardsen, Lars K.;
Sindrup, Søren H.;
Christiansen, Ingelise;
Sheikh, Aisha M.;
Holbech, Jakob V.;
Andersen, Henning

Publication type:

Article

Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 797, doi. 10.3233/JND-221596

By:

Zygmunt, Deborah A.;
Lam, Patricia;
Ashbrook, Anna;
Koczwara, Katherine;
Lek, Angela;
Lek, Monkol;
Martin, Paul T.

Publication type:

Article