Works matching IS 22143599 AND DT 2024 AND VI 11 AND IP 2

Results: 20

Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies – Developing Potential Treatments for the Entire Spectrum of Disease.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 499, doi. 10.3233/JND-230219

By:

McDonald, Craig;
Camino, Eric;
Escandon, Rafael;
Finkel, Richard S.;
Fischer, Ryan;
Flanigan, Kevin;
Furlong, Pat;
Juhasz, Rose;
Martin, Ann S.;
Villa, Chet;
Sweeney, H. Lee

Publication type:

Article

Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 275, doi. 10.3233/JND-230205

By:

Lu, Qi L.;
Holbrook, Molly C.;
Cataldi, Marcela P.;
Blaeser, Anthony

Publication type:

Article

The Importance of Early Treatment of Inherited Neuromuscular Conditions.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 253, doi. 10.3233/JND-230189

By:

Mackels, Laurane;
Servais, Laurent

Publication type:

Article

A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 485, doi. 10.3233/JND-230181

By:

Gangfuß, Andrea;
Rating, Philipp;
Ferreira, Tomas;
Hentschel, Andreas;
Marina, Adela Della;
Kölbel, Heike;
Sickmann, Albert;
Abicht, Angela;
Kraft, Florian;
Ruck, Tobias;
Böhm, Johann;
Schänzer, Anne;
Schara-Schmidt, Ulrike;
Neuhann, Teresa M.;
Horvath, Rita;
Roos, Andreas

Publication type:

Article

Burden of Disease of Duchenne Muscular Dystrophy in Denmark – A National Register-Based Study of Individuals with Duchenne Muscular Dystrophy and their Closest Relatives.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 443, doi. 10.3233/JND-230133

By:

Rudolfsen, Jan Håkon;
Vissing, John;
Werlauff, Ulla;
Olesen, Charlotte;
Illum, Niels;
Olsen, Jens;
Poulsen, Peter Bo;
Strand, Mette;
Born, Alfred Peter

Publication type:

Article

The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 285, doi. 10.3233/JND-230129

By:

Bello, Luca;
Sabbatini, Daniele;
Fusto, Aurora;
Gorgoglione, Domenico;
Borin, Giovanni Umberto;
Penzo, Martina;
Riguzzi, Pietro;
Villa, Matteo;
Vianello, Sara;
Calore, Chiara;
Melacini, Paola;
Vio, Riccardo;
Barp, Andrea;
D'Angelo, Grazia;
Gandossini, Sandra;
Politano, Luisa;
Berardinelli, Angela;
Messina, Sonia;
Vita, Gian Luca;
Pedemonte, Marina

Publication type:

Article

Post-hoc Nonparametric Analysis of Forced Vital Capacity in the COMET Trial Demonstrates Superiority of Avalglucosidase Alfa vs Alglucosidase Alfa.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 369, doi. 10.3233/JND-230175

By:

Boentert, Matthias;
Campana, Emmanuelle Salort;
Attarian, Shahram;
Diaz-Manera, Jordi;
Dimachkie, Mazen M.;
Periquet, Magali;
Thibault, Nathan;
Miossec, Patrick;
Zhou, Tianyue;
Berger, Kenneth I.

Publication type:

Article

Facioscapulohumeral Muscular Dystrophy European Patient Survey: Assessing Patient Reported Disease Burden and Preferences in Clinical Trial Participation.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 459, doi. 10.3233/JND-230171

By:

McNiff, Megan M.;
Hawkins, Sheila;
Haase, Bine;
Bullivant, Joanne;
McIver, Tammy;
Mitelman, Olga;
Emery, Nicholas;
Tasca, Giorgio;
Voermans, Nicol;
Diaz-Manera, Jordi

Publication type:

Article

Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 361, doi. 10.3233/JND-230162

By:

Cornell, Nikki;
Childs, Anne-Marie;
Wraige, Elizabeth;
Munot, Pinki;
Ambegaonkar, Gautam;
Chow, Gabriel;
Hughes, Imelda;
Illingworth, Marjorie;
Majumdar, Anirban;
Marini-Bettolo, Chiara;
Parasuraman, Deepak;
Spinty, Stefan;
Willis, Tracey;
Scoto, Mariacristina;
Baranello, Giovanni

Publication type:

Article

The Early Care (0–3 Years) In Duchenne Muscular Dystrophy Meeting Report.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 525, doi. 10.3233/JND-230180

By:

Armstrong, Niki;
Apkon, Susan;
Berggren, Kiera N.;
Braun, Catherine;
Ciafaloni, Emma;
Connolly, Anne;
Kennedy, Annie;
Kuntz, Nancy;
Mathews, Katherine;
McGuire, Michelle;
Parad, Richard;
Scavina, Mena;
Scharf, Rebecca J.;
Waldrop, Megan

Publication type:

Article

DySMA – an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 473, doi. 10.3233/JND-230177

By:

Zang, Jana;
Witt, Stefanie;
Johannsen, Jessika;
Weiss, Deike;
Denecke, Jonas;
Dumitrascu, Charlotte;
Nießen, Almut;
Quitmann, Julia Hannah;
Pflug, Christina;
Flügel, Till

Publication type:

Article

SERCA1 Overexpression in Skeletal Muscle Attenuates Muscle Atrophy and Improves Motor Function in a Mouse Model of ALS.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 315, doi. 10.3233/JND-230123

By:

Mázala, Davi A.G.;
Chen, Dapeng;
Chin, Eva R.

Publication type:

Article

Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 425, doi. 10.3233/JND-230122

By:

Servais, Laurent;
Day, John W.;
De Vivo, Darryl C.;
Kirschner, Janbernd;
Mercuri, Eugenio;
Muntoni, Francesco;
Proud, Crystal M.;
Shieh, Perry B.;
Tizzano, Eduardo F.;
Quijano-Roy, Susana;
Desguerre, Isabelle;
Saito, Kayoko;
Faulkner, Eric;
Benguerba, Kamal M.;
Raju, Dheeraj;
LaMarca, Nicole;
Sun, Rui;
Anderson, Frederick A.;
Finkel, Richard S.

Publication type:

Article

Antisense Oligonucleotide-Mediated Downregulation of IGFBPs Enhances IGF-1 Signaling.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 299, doi. 10.3233/JND-230118

By:

Yavas, Alper;
van Putten, Maaike;
Aartsma-Rus, Annemieke

Publication type:

Article

Expert Insights from a Delphi-driven Neurologists' Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 411, doi. 10.3233/JND-230115

By:

Lidonnici, Dario;
Brambilla, Pietro;
Ravasio, Roberto;
Zozulya-Weidenfeller, Alla;
Beiderbeck, Annette;
van Aswegen, Mariska;
Oliveira, Rosa;
Sansone, Valeria A.

Publication type:

Article

Treatment of Symptomatic Spinal Muscular Atrophy with Nusinersen: A Prospective Longitudinal Study on Scoliosis Progression.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 349, doi. 10.3233/JND-230077

By:

Ip, Hoi Ning Hayley;
Yu, Michael Kwan Leung;
Wong, Wilfred Hing Sang;
Liu, Amanda;
Kwan, Kenny Yat Hong;
Chan, Sophelia Hoi Shan

Publication type:

Article

Repeated AAV9 Titer Determination in a Presymptomatic SMA Patient with Three SMN2 Gene Copies – A Case Report.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 493, doi. 10.3233/JND-221659

By:

Eisenkölbl, Astrid;
Pühringer, Manuel

Publication type:

Article

Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 375, doi. 10.3233/JND-221513

By:

Ricci, Giulia;
Govoni, Alessandra;
Torri, Francesca;
Astrea, Guja;
Buchignani, Bianca;
Marinella, Gemma;
Battini, Roberta;
Manca, Maria Laura;
Castiglione, Vincenzo;
Giannoni, Alberto;
Emdin, Michele;
Siciliano, Gabriele

Publication type:

Article

Living with Dysphagia: A Survey Exploring the Experiences of Adults Living with Neuromuscular Disease and their Caregivers in the United Kingdom.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 389, doi. 10.3233/JND-230002

By:

Allen, Jodi;
Stone-Ghariani, Aoife;
Quezada, Gabriella;
Banks, Donna;
Rose, Frank;
Knight, William;
Newman, Jill;
Newman, William;
Anderson, Philip;
Smith, Christina

Publication type:

Article

IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 327, doi. 10.3233/JND-230063

By:

Greco, Anna;
Mul, Karlien;
Jaeger, Martin H.;
dos Santos, Jéssica C.;
Koenen, Hans;
de Jong, Leon;
Mann, Ritse;
Fütterer, Jurgen;
Netea, Mihai G.;
Pruijn, Ger J.M.;
van Engelen, Baziel G.M.;
Joosten, Leo A.B.

Publication type:

Article