Results 101 to 110 of about 713 (148)

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

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

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

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

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

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

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

Meeting report: 2025 muscular dystrophy association summit on 'safety and challenges in gene therapy of neuromuscular diseases'. [PDF]

J Neuromuscul Dis
Lin BC, Lek A, Bönnemann CG, Byrne BJ.
europepmc   +1 more source

Experiences in the molecular genetic and histopathological evaluation of calpainopathies

neurogenetics, 2022
Calpainopathy is mainly characterized by symmetric and progressive weakness of proximal muscles. Several reports showed that the most common LGMD subtype is LGMDR1 or calpainopathy, which had previously been defined as LGMD2A. Until now, more than 500 likely pathogenic/pathogenic variants in the CAPN3 gene have been reported.
Berk Ozyilmaz, Ozgur Kirbiyik, Taha R. Ozdemir, Ozge Kaya Ozer, Yasar B. Kutbay, Kadri M. Erdogan, Merve Saka Guvenc, Şener Arıkan, Tuba Sozen Turk, Murat Yıldırım Kale, Irem Fatma Uludag, Figen Baydan, Filiz Sertpoyraz, Pinar Gencpinar, Gulden Diniz   +14 more
openaire   +3 more sources