Results 111 to 120 of about 466,057 (189)

Molecular Insights and Orthopedic Management in Muscular Dystrophies: A Comprehensive Review. [PDF]

Int J Mol Sci
Lejman J, Pytlak M, Danielewicz A, Rutz E, Latalski M, Lejman M.   +5 more
europepmc   +1 more source

Case Report: Pediatric immune-mediated necrotizing myopathies mimicking inherited muscle disorders: clinical, paraclinical, and genetic insights from two cases. [PDF]

Front Pediatr
Severa G, Cortes-Rojas MC, Gomez-Garcia de la Banda M, Belmondo T, Benezit A, Leturcq F, Verebi C, Periou B, Gallardo E, Cassandrini D, Gendre T, Hue S, Gitiaux C, Toubal N, Nouioua S, Boucher N, Bader-Meunier B, Authier FJ, Carlier RY, Quijano-Roy S, Malfatti E.   +20 more
europepmc   +1 more source

Neuromuscular Disorders in Children Through the Lens of Next-Generation Sequencing: A Study of Diagnostic Yield. [PDF]

Int J Mol Sci
Ostojić S, Kovačević G, Ilić N, Marić N, Anđelković M, Lalić T, Mišković M, Ljubičić KK, Marjanović I, Paripović A, Baša M, Vukomanović V, Krstić J, Adamović M, Sovtić A, Sarajlija A.   +15 more
europepmc   +1 more source

Clinical Care and Rehabilitation in Neuromuscular Disorders-Why It Highly Matters. [PDF]

J Clin Med
Gdynia HJ.
europepmc   +1 more source

French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice. [PDF]

Orphanet J Rare Dis
Severa G, Souvannanorath S, Tahiri I, Alimi C, Slioui A, Villa L, Salort-Campana E, Leturcq F, Streichenberger N, Krahn M, Solé G, Feasson L, Nadaj-Pakleza A, Tard C, Stojkovic T, Sacconi S, Malfatti E.   +16 more
europepmc   +1 more source

Effects of sevasemten (EDG-5506) on safety, biomarkers, and functional measures in adults with Becker muscular dystrophy: results of a phase 1b, open-label study. [PDF]

EBioMedicine
Phan H, Barthel B, Madden M, Silverman JA, Bronson A, Thaler E, Kilburn NR, Amato M, Massaro M, MacDougall J, Russell AJ, Donovan J.   +11 more
europepmc   +1 more source

Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9. [PDF]

Neurol Genet
Vissing J, Mozaffar T, Johnson NE, Mathews KD, Wicklund MP, Weihl C, Leung DG, Statland JM, Kang PB, Zingariello CD, Lowes LP, Desai U, Bates K, Alfano LN, Xie H, St Romain J, Blankenbiller T, McLendon G, Rajasingham T, Heitzer M, Wu-Zhang AX, Tripp K, Rodriguez HM, Sproule D, as the GRASP-LGMD Consortium.   +24 more
europepmc   +1 more source

Identification of prognostic biomarkers in a large cohort of patients with LGMD R2. [PDF]

J Neurol
Bolano-Diaz CF, Verdu-Diaz J, Hao D, James MK, Rufibach L, Blamire A, Reyngoudt H, Carlier PG, Gordish-Dressman H, Hilsden H, Spuler S, Day J, Jones KJ, Bharucha-Goebel D, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Mendell J, Jain COS Consortium, Straub V, Diaz-Manera J.   +24 more
europepmc   +1 more source

Orofacial dysfunction in persons with congenital or childhood-onset neuromuscular disorders. [PDF]

J Neuromuscul Dis
Bengtsson-Stelzer L, Kroksmark AK, Persson C, Tuomi L, Ekström AB.   +4 more
europepmc   +1 more source

Role of cardiovascular magnetic resonance in diagnosis and management of muscular dystrophies. [PDF]

J Cardiovasc Magn Reson
Russo V, Hudelo J, Marchel M, Florence J, Soulat G, Manka R, Pontana F, Dacher JN, Toupin S, Nazarian S, Nigro G, Wahbi K, Pezel T.   +12 more
europepmc   +1 more source