Results 101 to 110 of about 466,057 (189)

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing. [PDF]

J Neuromuscul Dis
Pion E, Cossée M, Biancalana V, Bourdain CA, Bouchet-Seraphin C, Fauré J, Froissart R, Leturcq F, Menassa R, Metay C, Michel-Calemard L, Nectoux J, Petit F, Rendu J, Richard P, Sternberg D, Vuillaumier-Barrot S, Goethem CV, Thèze C, Attarian S, Krahn M, Gorokhova S.   +21 more
europepmc   +1 more source

Autosomal dominant and recessive limb-girdle muscular dystrophies : clinical, genetic relative frequency in a large Italian population

, 2007
A. Prelle, M. Moggio, F. Magri, N. Bresolin, M. G. D'Angelo, C. Lamperti, G.P. Comi, R. Cagliani, C. Zecca, F. Fortunato, S. Ghezzi, S. Lucchiari, R. Del Bo, M. Mora, M. Guglieri, L. Morandi, S. Salani   +16 more
core   +2 more sources

Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease Carriers. [PDF]

Neurol Genet
Gaynor A, Enicks D, Karam K, Turcios-Hernandez L, Provenzano M, Heier CR, Hale MA, Johnson NE.   +7 more
europepmc   +1 more source

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