Works matching IS 22143599 AND DT 2025 AND VI 12 AND IP 4

Results: 11

Exploring self-management of diet and physical activity in CACNA1S -related hypokalemic periodic paralysis: A qualitative interview study.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 4, p. 548, doi. 10.1177/22143602251342400

By:

Welland, Natasha Lervaag;
Venås, Benedicte Hagen;
Ellefsen-Martinsen, Mari;
Fossmo, Hanne Ludt;
Rosenberger, Andreas Dybesland;
Dahl, Helene;
Ørstavik, Kristin;
Nordstrøm, Marianne

Publication type:

Article

Altered reversal and extinction learning in the DMSXL mouse model of type I myotonic dystrophy (DM1): An exploratory study.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 4, p. 535, doi. 10.1177/22143602251339350

By:

Nieuwenhuis, Sylvia;
Kozakov, Denys;
Kapusta, Kasia;
Gourdon, Geneviève;
Glennon, Jeffrey C

Publication type:

Article

A model to predict the 6-Minute Walk Distance in Pompe disease.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 4, p. 487, doi. 10.1177/22143602251336661

By:

El kaïm, Audrey;
Fer, Frédéric;
Decostre, Valérie;
Laforêt, Pascal;
Hogrel, Jean-Yves

Publication type:

Article

Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 4, p. 523, doi. 10.1177/22143602251332829

By:

Berger, Kenneth I;
Ivanescu, Cristina;
Msihid, Jérôme;
Periquet, Magali;
Hamed, Alaa;
Haack, Kristina an;
Zhou, Tianyue;
van der Beek, Nadine;
Boentert, Matthias;
Pulikottil-Jacob, Ruth;
Pollissard, Laurence

Publication type:

Article

Signs and symptoms of carriers of non- DMD X-linked neuromuscular diseases: A scoping review.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 4, p. 473, doi. 10.1177/22143602251330441

By:

Simons, Job;
Dekker, Amanda;
Govaarts, Rosanne;
Sarkozy, Anna;
Windpassinger, Christian;
Houwen, Saskia;
Voermans, Nicol

Publication type:

Article

Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 4, p. 497, doi. 10.1177/22143602251329215

By:

Colombo, S;
Cowling, BS;
Eyler, L;
Nijkamp, D;
Freitag, C;
Thielemans, L;
Bouman, K;
Baets, J;
Vissing, J;
Quinlivan, R;
Guglieri, M;
Montagnese, F;
Schara-Schmidt, U;
Dhawan, A;
Lawlor, MW;
Voermans, NC

Publication type:

Article

Painful muscle stiffness with markedly elevated serum creatine kinase (CK) levels after twenty weeks of gestation in four patients with myotonic dystrophy type 1 (DM1) and a patient with paramyotonia congenita (PMC).

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 4, p. 558, doi. 10.1177/22143602251329168

By:

Kinoshita, Masanobu;
Yamamoto, Masaomi;
Machida, Ryuichi;
Misawa, Masahiro;
Yabe, Shinichiro;
Yoshida, Norihito;
Kikuchi, Akihiko;
Fukaura, Hikoaki;
Kaida, Kenichi;
Ohno, Kinji

Publication type:

Article

Paraneoplastic anti-SRP antibody positive immune-mediated necrotizing myopathy in a young female associated with lymphoma.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 4, p. 567, doi. 10.1177/22143602251327002

By:

Heugenhauser, Johanna;
Pauli, Franziska Di;
Stockhammer, Günther;
Chott, Andreas;
Feistritzer, Clemens;
Egle, Daniel;
Henninger, Benjamin;
Wanschitz, Julia

Publication type:

Article

Kennedy's disease from India: An Indian Cohort with multisystemic manifestations.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 4, p. 513, doi. 10.1177/22143602251325795

By:

Gomathy, Saranya B;
Macken, William L;
Rani, Nimita;
Agarwal, Ayush;
Singh, Rakesh;
Dhamne, Megha;
Nair, Sruthi S;
Reyaz, Alisha;
Ahmed, Tanveer;
Dalal, Ashwin;
Muthulakshmi, Mayandi;
Wilson, Lindsay;
Vijayaraghavan, Asish;
Bhatia, Rohit;
Pitceathly, Robert D S;
Thangaraj, Kumarasamy;
Reilly, Mary M;
Srivastava, Padma MV;
Hanna, Michael G;
Vishnu, Venugopalan Y

Publication type:

Article

Sarcoglycanopathies: From clinical diagnosis to new promising therapies.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 4, p. 463, doi. 10.1177/22143602251324855

By:

Borland, Holly;
Diaz-Manera, Jordi

Publication type:

Article

Recent advances in the clinical spectrum and pathomechanisms associated with X-linked myopathy with excessive autophagy and other VMA21 -related disorders.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 4, p. 443, doi. 10.1177/22143602251314767

By:

Cocchiararo, Ilaria;
Castets, Perrine

Publication type:

Article