Results 91 to 100 of about 3,708 (153)

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

Alternative Splicing Dynamics Associated with Nutritional Transition and Starvation-Induced PNR in <i>Leiocassis longirostris</i> Larvae. [PDF]

Biology (Basel)
Guan S, Si X, Tang Y, Li Q, Zhou C.
europepmc   +1 more source

Mild traumatic brain injury promotes chronic cerebrovascular inflammation and glymphatic suppression. [PDF]

Mol Neurodegener Adv
Eisenbaum M, Pearson A, Cembran A, Mufson EJ, Ortiz C, Spelman M, Mullan M, Crawford F, Ojo J, Bachmeier C.   +9 more
europepmc   +1 more source

Low LAMA2 expression may affect drug resistance and prognosis in ovarian cancer via positive LGR5 coexpression. [PDF]

Transl Cancer Res
Du Z, Su Y, Xia L, Lei S, Ke Y, Chen X, Liu X, Yin F.   +7 more
europepmc   +1 more source

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings. [PDF]

Hum Mutat
Yousaf H, Khalid LB, Ahmed A, Ghumman RZ, Hassan S, Zahra H, Zafar G, Rubab K, Azakai H, Khan HN, Mahmood Q, Ali A, Mian BA, Ali Z, Raza M, Bano S, Mukhtiar K, Abdullah U, Ibrahim SH, Baig SM, Toft M, Kirmani S, Iqbal Z, Fatima A.   +23 more
europepmc   +1 more source

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

Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies. [PDF]

Mol Biol Rep
Ahmad R, Hashmi MA, Ullah A, Rehman UU, Naeem M, Houlden H.   +5 more
europepmc   +1 more source

Glomerular basement membrane structural integrity dictates trans-tissue deposition of laminin in the kidney. [PDF]

Cell Rep
Omachi K, Lin MH, Puapatanakul P, Begin JF, McKee KK, Fujiwara H, Yurchenco PD, Miner JH.   +7 more
europepmc   +1 more source

LAMA2-CMD: establishment of a new gene therapy strategy using an in vitro model

In skeletal muscle tissue, the basement membrane lining the sarcolemma coats and protects myofibers from contraction-induced damage. A key component of this specialized structure is the Laminin-211 (LN211). Pathogenic mutations in the LAMA2 gene, which encodes the α2-chain of laminin-211, trigger a life-threatening and currently incurable disease ...
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