Results 141 to 150 of about 7,022 (221)

Dantrolene-Responsive Muscle Stiffness in a Patient With a Normal Neurologic Exam and EMG: A Case Report. [PDF]

Case Rep Neurol Med
Deardorff AS, Burford MJ, Rich MM.
europepmc   +1 more source

Recurrent <i>CAPN3</i> p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity. [PDF]

Int J Mol Sci
D'Este G, Giorgetti A, Cassandrini D, Magri F, Ronchi D, Rubegni A, Lopergolo D, Malandrini A, Merlini L, Vattemi G, Tonin P, Barresi R.   +11 more
europepmc   +1 more source

Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D [PDF]

, 2019
Bengoechea, Rocio, Chou, Tsui-Fen, Findlay, Andrew R., Pittman, Sara K., True, Heather L., Weihl, Conrad C.   +5 more
core   +1 more source

Integrative Transcriptomic and Network-Based Analysis of Neuromuscular Diseases. [PDF]

Int J Mol Sci
García-Criado F, Hurtado-García L, Rojano E, Esteban-Martos Á, Pérez-García J, Seoane P, Ranea JAG.   +6 more
europepmc   +1 more source

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

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

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

European Journal of Human Genetics, 2014
J. Nectoux, R. Cid, S. Baulande, F. Leturcq, J. Urtizberea, I. Pénisson‐Besnier, A. Nadaj-Pakleza, C. Roudaut, A. Criqui, L. Orhant, D. Peyroulan, R. Yaou, I. Nelson, A. Cobo, M. Arné-Bès, E. Uro-Coste, P. Nitschké, M. Claustres, G. Bonne, N. Lévy, J. Chelly, I. Richard, M. Cossée   +22 more
semanticscholar   +1 more source