Results 111 to 120 of about 607 (153)

A rare homozygous <i>CAPN3</i> variant with distinct clinical features in unrelated families of Iraqi Jewish descent. [PDF]

J Neuromuscul Dis
Assia Batzir N, Orenstein N, Yaron Y, Kuzminsky A, Nevo Y, Konen O, Bazak L, Lidzbarsky G, Basel-Salmon L, Aharoni S.   +9 more
europepmc   +1 more source

LGMD R18 Mimicking Wilson Disease: 6-Year Longitudinal Muscle MRI Evolution and Clinical Insights into <i>TRAPPC11</i> Mutation. [PDF]

Diagnostics (Basel)
Chou YT, Chou HP, Chen YW.
europepmc   +1 more source

Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1. [PDF]

Orphanet J Rare Dis
Banerjee S, Radotra BD, Luthra-Guptasarma M, Goyal MK.   +3 more
europepmc   +1 more source

Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies. [PDF]

PLoS One
Boonsri P, Yamutai S, Tanutit P, Sattayapornpipat J, Charalsawadi C, Koonalintip P, Sathirapanya P, Setthawatcharawanich S, Leelawattana R, Korathanakhun P.   +9 more
europepmc   +1 more source

Hereditary Truncal Dystonia Associated with ANO3 Gene Variant. [PDF]

Mov Disord Clin Pract
Mônaco Gama S, Gerdulli Tamanini JV, Oliveira JB, Tonholo Silva TY, Barsottini OGP, Pedroso JL.   +5 more
europepmc   +1 more source

Neutral Lipid Storage Disease with Myopathy: A Case Report with a Novel PNPLA2 Mutation. [PDF]

Ann Indian Acad Neurol
Desai S, Shah A, Neelamegam S, Mahadevan A.   +3 more
europepmc   +1 more source

Multi-parametric quantitative MRI of the lower limb muscles in a longitudinal study of limb-girdle muscular dystrophy R9. [PDF]

PLoS One
Rauh SS, Baudin PY, Stojkovic T, Birnbaum S, Decostre V, Zanfongnon RL, Fromes Y, Hooijmans MT, Strijkers GJ, Hogrel JY, Olivier S, Marty B, Reyngoudt H.   +12 more
europepmc   +1 more source

RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2A. [PDF]

Neurol Genet
Wang G, Liu H, Yang G, Gu S, Yan C, Lin P.   +5 more
europepmc   +1 more source

Applicability of a serodiagnostic line blot for idiopathic inflammatory myopathy: the muscle biopsy is not all. [PDF]

Front Neurol
Fontana PN, da Silva VG, Corazzini R, Athayde NM, Ferreira da Silva AMD, Brockhausen I, Correia CDC, Sobreira CFDR, Tomaselli P, Petean F, de Oliveira R, Feitoza PV, Moraes Soane M, Saraiva N, Hidalgo R, Fideles C, Feder D, Carvalho AAS.   +17 more
europepmc   +1 more source