Results 101 to 110 of about 607 (153)

Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients. [PDF]

Orphanet J Rare Dis, 2023
Lin F, Yang K, Lin X, Jin M, Chen L, Zheng FZ, Qiu LL, Ye ZX, Chen HZ, Lin MT, Wang N, Wang ZQ.   +11 more
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

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

Acta Myol
Angelini C.
europepmc   +1 more source

Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing. [PDF]

Glob Med Genet
Mathur P, Kaur A, Vijay U, Gupta A, Agarwal K, Agrawal L.   +5 more
europepmc   +1 more source

Corrigendum to "A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort": [Turkish Journal of Medical Sciences 54 (1) 2024 86-98]. [PDF]

Turk J Med Sci
Şahin İO, Karataş E, Demir M, Tan B, Per H, Özkul Y, Dündar M.   +6 more
europepmc   +1 more source

A Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a De Novo Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in CAPN3. [PDF]

Intern Med
Komaki S, Kubota A, Katsuse K, Kitamura A, Maeda M, Matsukawa T, Eura N, Saito Y, Nishino I, Toda T.   +9 more
europepmc   +1 more source

Calpainopathy Can Manifest Itself in Not Only Skeletal Muscle but Also the Brain and Myocardium. [PDF]

Intern Med
Finsterer J.
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

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 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