Results 121 to 130 of about 466,013 (152)

Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region. [PDF]

Ital J Pediatr
Güner Özcanyüz D, GüL Mert G, Özcan N, Bilge S, İncecik F, Zorludemir S, Tuğ Bozdoğan S, Hergüner MÖ.   +7 more
europepmc   +1 more source

Autosomal Dominant Missense <i>DAG1</i> Variant Linked to Mild-Moderate LGMD R16. [PDF]

Hum Mutat
Malfatti E, Caramizaru A, Trentin F, Dumitrescu A, Sali L, Bastian A, Lee H, Tajsharghi H, Verebi C, Nectoux J, Leturcq F, Phadke R, Sarkozy A, Manzur A, Fodil R, Dobrescu A.   +15 more
europepmc   +1 more source

Sarcoglycanopathy with absent expression of all sarcoglycan proteins in a young cat with clinical features of feline hypertrophic muscular dystrophy. [PDF]

JFMS Open Rep
Doroudi A, Sirochman A, Mooney A.
europepmc   +1 more source

Targeting nuclear receptors in muscular dystrophies and regenerative myogenesis. [PDF]

Front Cell Dev Biol
Mann E, Vu H, Narkar VA, Liu Y.
europepmc   +1 more source

Dilated Cardiomyopathy and Later Onset Limb-Girdle Muscular Dystrophy Associated With Fukutin and LaminA/C Mutations. [PDF]

JACC Case Rep
Cardona Perez A, Moenning R, Bodkin C, Gutmann L, Helm BM, Wells L, Moore SA, Ilonze OJ.   +7 more
europepmc   +1 more source

Motor Function in Limb-Girdle Muscular Dystrophy R1/2A: Validation of Clinical Outcome Assessments for Clinical Care and Trial Readiness. [PDF]

Neurol Genet
James MK, Iammarino MA, Reash NF, Steiner CL, Knight AB, Smith MA, Moat D, Michell-Sodhi J, Wong KSW, Grover E, Robinson EJ, Mayhew AG, Eagle M, Elseed M, Guglieri M, Straub V, Marini-Bettolo C, Muni-Lofra R, Diaz-Manera J, Lowes LP, Alfano LN.   +20 more
europepmc   +1 more source

Myofibrillar myopathy type 8 mimicking a Limb-Girdle Muscle Dystrophy: the first Tunisian case report. [PDF]

Acta Myol
Majoul MS, Zouari R, Hassine A, Mokni M, Ben Sassi S.   +4 more
europepmc   +1 more source

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