Results 71 to 80 of about 32,083 (123)

LAMA2 Triple Variant in a Mexican Child with Congenital Muscular Dystrophy. [PDF]

Ann Indian Acad Neurol
Pinto-Escalante D, Fuentes-Olán M, Contreras-Capetillo S, González-Herrera LJ, Rubi-Castellanos R.   +4 more
europepmc   +1 more source

Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A. [PDF]

Front Genet, 2023
Diaz-Lombana N, Diaz-Ordoñez L, Gutierrez-Medina JD, Pachajoa H.   +3 more
europepmc   +1 more source

Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period. [PDF]

Neurol Genet
Cicala G, Mccauley J, Phadke R, Mueller J, Robb SA, Manzur AY, Munot P, Baranello G, Scoto M, Tedesco FS, Mein RA, Walsh C, Muntoni F, Sarkozy A.   +13 more
europepmc   +1 more source

Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients. [PDF]

Front Genet, 2023
Tran VK, Nguyen NL, Tran LNT, Le PT, Tran AH, Pham TLA, Lien NTK, Xuan NT, Thanh LT, Ta TV, Tran TH, Nguyen HH.   +11 more
europepmc   +1 more source

<i>LAMA2</i> variants associated with muscular dystrophy, brain structural abnormalities, and epilepsy: a genotype-phenotype study. [PDF]

Front Neurol
Zha J, Yu Y, Cao F, Yi Z, Wu H, Chen Y, Zhong J, Yu X.   +7 more
europepmc   +1 more source

Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients. [PDF]

Front Neurol, 2023
Huang X, Tan D, Zhang Z, Ge L, Liu J, Ding J, Yang H, Wei C, Chang X, Yuan Y, Yan C, Xiong H.   +11 more
europepmc   +1 more source

The role of recombinant human laminin-111 in adhesion-signaling and glycosylation in laminin-⍺2 deficient muscle

LAMA2-related congenital muscular dystrophy (LAMA2-CMD) is a rare and severe neuromuscular disease characterized by progressive muscular degeneration. LAMA2-CMD is caused by mutations in LAMA2 which encodes for the laminin-α2 protein.
Hermann, Hailey Jean
core   +1 more source

A novel mouse model for <i>LAMA2</i>-related muscular dystrophy with analysis of molecular pathogenesis and clinical phenotype. [PDF]

Elife
Tan D, Liu Y, Luo H, Shen Q, Long X, Xu L, Liu J, Zhong NA, Zhang H, Xiong H.   +9 more
europepmc   +1 more source

Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation. [PDF]

J Neuromuscul Dis, 2023
Camelo CG, Artilheiro MC, Martins Moreno CA, Ferraciolli SF, Serafim Silva AM, Fernandes TR, Lucato LT, Rocha AJ, Reed UC, Zanoteli E.   +9 more
europepmc   +1 more source

Ultra-rare variants in LAMA2 are risk factors for frontotemporal dementia and motor neuron disease. [PDF]

Hum Mol Genet
Lok HC, Dobson-Stone C, Hallupp M, Matis S, Landin-Romero R, Guennewig B, Mundell H, Don AS, Fifita J, McCann EP, Fat SCM, Blair IP, Mather KA, Thalamuthu A, Wen W, Sachdev PS, Brooks WS, Piguet O, Halliday GM, Kim WS, Kwok JB.   +20 more
europepmc   +1 more source