Results 101 to 110 of about 2,687 (150)

Genetic and Clinical Spectrum of Limb-Girdle Muscular Dystrophies in Western Sicily. [PDF]

Genes (Basel)
Rini N, Lupica A, Alonge P, Crescimanno G, Pignolo A, Messina C, Santa Paola S, Giuliano M, Borgione E, Lo Giudice M, Scuderi C, Di Stefano V, Brighina F.   +12 more
europepmc   +1 more source

A Viewpoint on Reframing Genetic Myopathy Classification: A Unified, Semiotic, Tri-Axis Approach. [PDF]

Ann Indian Acad Neurol
Khadilkar SV, Halani HA.
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

Increasing recognition of statin-associated anti-HMGCR antibody-positive autoimmune myopathy: a single-center retrospective study. [PDF]

Clin Rheumatol
Mali M, Pirilä L, Jokela M, Pääkkö T, Mali M.   +4 more
europepmc   +1 more source

A child of congenital muscular dystrophy-dystroglycanopathy with a novel variant in the <i>CRPPA</i> gene: a case report and literature review. [PDF]

Transl Pediatr
Zhang S, Wu M, Li X, Wang S, Zhai R, Li L, Li Z, Guo Q.   +7 more
europepmc   +1 more source

Bio-Inspired Motion-Contour-Guided Visual System for Contrast-Independent Looming Perception. [PDF]

Biomimetics (Basel)
Yao J, Zhang J, Zhong Z, He H, Wang H.
europepmc   +1 more source

Psychological symptoms as the initial manifestation of choline kinase β-related muscular dystrophy. [PDF]

J Transl Int Med
Wu Y, Lu Y, Liu C, Wang Y, Chu X, Wang Z, Yuan Y, Xie Z.   +7 more
europepmc   +1 more source

Local Non-Coding Regulatory Elements in Muscular Dystrophies. [PDF]

Int J Mol Sci
Wilton-Clark H, Rodriguez SH, Yokota T, Yokota T.   +3 more
europepmc   +1 more source

<i>CRPPA</i> exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathy. [PDF]

Pediatr Investig
Luo J, Liu Y, Song D, Yang S, Fu X, Ge L, Wei C, Cui L, Fan Y, Luo H, He Y, Xu J, Shen Q, Guo Y, Kanagawa M, Toda T, Wang J, Zhang H, Xiong H.   +18 more
europepmc   +1 more source

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene. [PDF]

Int Med Case Rep J
Alghamdi OA, Obaid O, Sayed AG, Farhan H, Sayed J.   +4 more
europepmc   +1 more source