Results 51 to 60 of about 3,643 (133)

<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

Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients. [PDF]

Acta Neuropathol Commun
Pini V, Catapano F, Bonaccorso R, Weisburd B, Previtali SC, Muntoni F.   +5 more
europepmc   +1 more source

Natural history of LAMA2 related dystrophies

Arquivos de Neuro-Psiquiatria
Clara Gontijo Camelo, Mariana Cunha Artilheiro, Cristiane Araujo Martins Moreno, Alulin Tácio Quadros Monteiro Fonseca, Rodrigo Holanda Mendonca, Andre Macedo Serafim da Silva, Umbertina Conti Reed, Edmar Zanoteli   +7 more
openaire   +1 more source

Novel LAMA1 Mutations in a Pedigree With Poretti-Boltshauser Syndrome: Implications for Hypomyelination. [PDF]

Mol Genet Genomic Med
Huang S, Li Y, Xin J, Mo W, Lin X, Mai B, He J, Zhong X, Xu J.   +8 more
europepmc   +1 more source

[Whole genome sequencing and analysis of familial nonsyndromic congenital tooth agenesis]. [PDF]

Hua Xi Kou Qiang Yi Xue Za Zhi
Zheng Y, Wang D, Jiang T, Yang D, Lu H.
europepmc   +1 more source

Loss of cell-autonomously secreted laminin-α2 drives muscle stem cell dysfunction in LAMA2-related muscular dystrophy. [PDF]

Nat Commun
McGowan TJ, Reinhard JR, Lewerenz N, Białobrzeska M, Lin S, Stępniewski J, Szade K, Dulak J, Rüegg MA.   +8 more
europepmc   +1 more source

A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy. [PDF]

BMC Med Genomics
Nejati P, Falsafi N, Alimoradi E, Khosravi T, Kamari M, Oladnabi M, Alibakhshi R.   +6 more
europepmc   +1 more source

Primary dilated cardiomyopathy with LAMA2 and PKP4 mutations: imaging, genetics, and histology. [PDF]

Eur Heart J Case Rep
Zhou F, Li J, Lu M.
europepmc   +1 more source

Integrative analysis and functional validation identified palmitoylated PHGDH as a therapeutic target for colon adenocarcinoma. [PDF]

Cell Oncol (Dordr)
Song Y, Lin L, Liu D, Zhu M, Wang P, Li K, Li A, Chen K, Ye Z.   +8 more
europepmc   +1 more source

Spatial proteomics reveals recombinant human laminin-111 restores adhesion signaling to laminin-α2-deficient muscle. [PDF]

JCI Insight
Hermann HJ, Wuebbles RD, Dagda M, Muñoz A, Parker LL, Guzman PC, Byrne LT, Moore SA, Burkin DJ.   +8 more
europepmc   +1 more source