Works matching IS 22143599 AND DT 2025 AND VI 12 AND IP 5

Results: 12

Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 5, p. 594, doi. 10.1177/22143602251345967

By:

Bardakov, Sergey N.;
Sorochanu, Irina;
Mkrtchyan, Lilit A.;
Slesarenko, Yana S.;
Tsargush, Vadim A.;
Limaev, Igor S.;
Isaev, Artur A.;
Yakovlev, Ivan A.;
Deev, Roman V.

Publication type:

Article

A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 5, p. 689, doi. 10.1177/22143602251339569

By:

Laarne, Milla;
Oghabian, Ali;
Laitila, Jenni;
Isohanni, Pirjo;
Tynninen, Olli;
Zhao, Fang;
Rostedt, Fanny;
Sarparanta, Jaakko;
Sagath, Lydia;
Lawlor, Michael W;
Wallgren-Pettersson, Carina;
Lehtokari, Vilma-Lotta;
Pelin, Katarina

Publication type:

Article

The evolving genetic landscape of neuromuscular fetal akinesias.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 5, p. 577, doi. 10.1177/22143602251339357

By:

Haliloğlu, Göknur;
Ravenscroft, Gianina

Publication type:

Article

A prospective observational study assessing the functional disease progression of LGMDR4, betasarcoglycan-related limb girdle muscular dystrophy.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 5, p. 630, doi. 10.1177/22143602251339219

By:

Iammarino, Megan A;
Reash, Natalie F;
Shannon, Kiana;
Dugan, Maggie;
Lehman, Kelly;
Meyers, Alayne;
Mendell, Jerry R;
Alfano, Lindsay N;
Lowes, Linda P

Publication type:

Article

Systematic review for economic evaluations on newborn screening for spinal muscular atrophy.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 5, p. 619, doi. 10.1177/22143602251336862

By:

Pace, Alexander C;
Poon, Corrina;
Chakraborty, Pranesh;
Oskoui, Maryam;
McMillan, Hugh;
Mackenzie, Alex;
Round, Jeff

Publication type:

Article

Thinking outside the box: A re-evaluation of Canadian recommended outcome measures in adult spinal muscular atrophy – report of a national consensus workshop.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 5, p. 699, doi. 10.1177/22143602251336076

By:

O'Connell, Colleen;
Rodrigue, Xavier;
Hodgkinson, Victoria;
Henley, Katie;
Slayter, Jeremy;
Aleman, Alberto;
Drost, Dorothy;
Izenberg, Aaron;
Knowles, Beth;
Lochmüller, Hanns;
Nury, Marianne;
O'Ferrall, Erin;
Osman, Homira;
Schellenberg, Kerri;
Shoesmith, Christen;
Stables, Christine;
Vander Wyk, Susi;
Westbury, Grace

Publication type:

Article

Application of the ENCALS predictive survival model in assessing the effect of the 24/44 inclusion criteria in FORTITUDE-ALS.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 5, p. 679, doi. 10.1177/22143602251336058

By:

Simkins, Tyrell;
Shefner, Jeremy M;
Kupfer, Stuart;
Malik, Fady I;
Meng, Lisa;
Rudnicki, Stacy A;
Wei, Jenny;
van Eijk, Ruben PA

Publication type:

Article

Pain in adult and adolescent patients with 5q-associated Spinal Muscular Atrophy – an often underrated phenomenon.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 5, p. 662, doi. 10.1177/22143602251325773

By:

Keipert, Lisa M;
Wurster, Claudia D;
Uzelac, Zeljko;
Dorst, Johannes;
Schuster, Joachim;
Wollinsky, Kurt;
Ludolph, Albert;
Lulé, Dorothée

Publication type:

Article

Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 5, p. 683, doi. 10.1177/22143602251323629

By:

Valls, Andrea;
Ruiz-Roldán, Cristina;
Immanuel, Jenita;
Camaño, Pilar;
Poza, Juan José;
Fernández-Torrón, Roberto;
López de Munain, Adolfo;
Sáenz, Amets

Publication type:

Article

Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 5, p. 648, doi. 10.1177/22143602251320267

By:

Saenz, Victoria;
Chlistalla, Marijana;
Carlos, Nayara;
Castiglioni, Claudia;
Soledad Monges, Maria;
Servais, Laurent;
Zanoteli, Edmar

Publication type:

Article

Pilot study of canakinumab (Ilaris) in steroid naïve children with Duchenne muscular dystrophy demonstrates safety and exploratory changes in potential serum protein response biomarkers.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 5, p. 641, doi. 10.1177/22143602251319177

By:

Spurney, Christopher F.;
Chong, Jessica;
Gordish-Dressman, Heather;
Hathout, Yetrib

Publication type:

Article

Short- and long-term natural history of three neurodegenerative biomarkers among middle-aged and older adults.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 5, p. 670, doi. 10.1177/22143602241301636

By:

Hamaya, Rikuta;
Rist, Pamela M;
Kupelian, Varant;
Gotter, Anthony L;
Sohn, Jihee;
Rubel, Carrie E;
Gaziano, J Michael;
Manson, JoAnn E;
Sesso, Howard D

Publication type:

Article