Results 111 to 120 of about 466,013 (152)

Recurrent Severe Viral-Induced Rhabdomyolysis Associated With Underlying Genetic Variants in a Young Adult: A Case Report. [PDF]

Cureus
Stone AM, Bunch CM, Gauger A, Seela G, Aboumourad N, Maust J, Picardal A, Roschyk CJ, Gonzales BA, Dollard AC, Abdelghani A, Yakey B, Klever RG, Miller J.   +13 more
europepmc   +1 more source

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing. [PDF]

Mol Genet Genomic Med
Rahmuni Y, Ratbi I, Lyahyai J, Jaouad IC, Batta O, Sbiti A, Sahli M, Askander O, Rchiad Z, Sefiani A.   +9 more
europepmc   +1 more source

Feasibility, validation and application of digital tools for remote monitoring in neuromuscular diseases: the DT4RD protocol. [PDF]

BMJ Open
Hogrel JY, Santmarty P, Decostre V, Marques T, Gasnier E, Masingue M, Querin G, Paalman M, Kok S, Horstik J, Sangadji MA, Klap P, Ferrer-Mallol E, Le Barbier C, Smith Van Carroll L, Hoyle K, Mayhew AG, Muni-Lofra R, Davies EH, Straub V.   +19 more
europepmc   +1 more source

Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases. [PDF]

Acta Myol
Mouloudi N, Kably B, Sefiani S, Birouk N.   +3 more
europepmc   +1 more source

Whole-Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian Families. [PDF]

Hum Mutat
Soltani N, Shahbazi Z, Fallah MS, Karimipoor M, Bagherian H, Dabbagh Bagheri S, Shirzadeh T, Zafarghandi Motlagh F, Rabie Salehi G, Younesikhah S, Asnavandi S, Zeinali R, Majidi Z, Zeinali S.   +13 more
europepmc   +1 more source

RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies. [PDF]

Curr Gene Ther, 2012
Liu J, Harper SQ.
europepmc   +1 more source

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

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