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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 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
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
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
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
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
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
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
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
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
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
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

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