Results 101 to 110 of about 2,672 (146)

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

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

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

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

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

Zebrafish as a Model Organism for Research in Rare Genetic Neuromuscular Diseases. [PDF]

Int J Mol Sci
Akyürek EE, Erba M, Dalla Barba F, Sandonà D, Sacchetto R.   +4 more
europepmc   +1 more source

Molecular Bases of Myopathies and Their Impact on Clinical Practice: Advances and Future Perspectives. [PDF]

Int J Mol Sci
Campuzano-Donoso M, Reytor-González C, Toral-Noristz M, González Y, Simancas-Racines D.   +4 more
europepmc   +1 more source

National diagnostic gaps for TK2 Deficiency in Italy: insights from the AIM Multicenter Survey. [PDF]

Acta Myol
Mancuso M, Lamperti C, Musumeci O.
europepmc   +1 more source

A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies. [PDF]

Hum Genomics
Khalilian S, Fathi M, Tangestani R, Larki P, Sayad A, Ghafouri-Fard S, Miryounesi M.   +6 more
europepmc   +1 more source

Treatabolome for finely targeting muscle pathology in LGMD. [PDF]

Acta Myol
Angelini C.
europepmc   +1 more source