Results 101 to 110 of about 3,643 (133)

An artificial LAMA2-GelMA hydrogel microenvironment for the development of pancreatic endocrine progenitors

Biomaterials, 2022
The biomimetic pancreatic microenvironment improves the differentiation efficiency and function of human embryonic stem cell-derived β-cells (SC-β cells). Thus, a laminin subunit alpha 2-gelatin methacrylate (LAMA2-GelMA) hybrid hydrogel as a bionics carrier for the formation and maturation of endocrine lineage was developed in our research, based on ...
Guo Qingsong, Zhiwei Wang, Yamin Li
exaly   +3 more sources

LAMA2-related muscular dystrophy mimicking multiple sclerosis

BMJ Case Reports, 2022
Laminin-alpha2-related muscular dystrophy (LAMA2-MD) is a genetic condition due to reduced LAMA2, a protein found throughout the nervous system. Late-onset LAMA2-MD may present with proximal muscle weakness, joint contractures, neuropathy, epilepsy and/or cardiorespiratory issues, and is less common than the neonatal form. We describe a novel phenotype
Jacqueline Koshorek, Nara de Macena Sobreira, Shiv Saidha   +2 more
openaire   +2 more sources

Epilepsy in LAMA2-related muscular dystrophy: A systematic review of the literature

Seizure, 2021
Epilepsy is a common, often severe, feature of LAMA2-related muscular dystrophy (LAMA2-RD) and could represent its onset and main manifestation, even in the absence of overt muscle involvement. To date, there is no systematic characterization of epilepsy in LAMA2-RD, and its impact on neurodevelopment and on the clinical course remains poorly ...
Andrea, Salvati, Eleonora, Bonaventura, Gianluca, Sesso, Rossella, Pasquariello, Federico, Sicca   +4 more
openaire   +2 more sources

LAMA2 mutations in adult-onset muscular dystrophy with leukoencephalopathy

Muscle & Nerve, 2014
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Kevelam, S.H., van Engelen, B.G.M., van Engelen, B.G.M., van Berkel, C.G., Kusters, B., Kusters, B., van der Knaap, M.S.   +6 more
openaire   +5 more sources

LAMA2-related congenital muscular dystrophy complicated by West syndrome

European Journal of Paediatric Neurology, 2015
Mutations in the LAMA2 gene cause autosomal recessive laminin α2 related congenital muscular dystrophy. In patients with partial laminin α2 deficiency the phenotype is usually milder than in those with absent protein. Apart from the typical white matter abnormalities, there is an increased risk of cerebral complications such as epilepsy and mental ...
Ana, Camacho, Noemí, Núñez, Gabriele, Dekomien, Aurelio, Hernández-Laín, Ana Martínez, de Aragón, Rogelio, Simón   +5 more
openaire   +2 more sources

Genetic profile of Brazilian patients with LAMA2 ‐related dystrophies

Clinical Genetics
Abstract LAMA2‐related dystrophies (LAMA2‐RD) constitute a rare neuromuscular disorder with a broad spectrum of phenotypic severity. Our understanding of the genotype–phenotype correlations in this condition remains incomplete, and reliable clinical data for clinical trial readiness is limited.
Clara Gontijo Camelo, Cristiane de Araujo Martins Moreno, Mariana da Cunha Artilheiro, Alulin Tácio Quadros Monteiro Fonseca, Juliana Gurgel Gianetti, André Vinícius Barbosa, Karina Carvalho Donis, Jonas Alex Morales Saute, André Pessoa, Hélio Van der Linden, Ana Rita Alcântara Gonçalves, Leslie Domenici Kulikowski, Fernando Kok, Edmar Zanoteli   +13 more
openaire   +2 more sources

Clinical and ultrasonographic evaluation of dysphagia in patients with LAMA2-CMD

Arquivos de Neuro-Psiquiatria
Background: LAMA2-CMD is a rare autosomal recessive disease characterized by hypotonia, muscle weakness, and the inability to achieve independent gait. It imposes a considerable disease burden, including difficulty in weight gain and dysphagia. Objective: However, this disease burden has not been thoroughly assessed in the medical literature, and this ...
Clara Gontijo Camelo, Pedro Henrique Marte de Arruda Sampaio, Ana Lucila Moreira, Cristiane de Araujo Martins Moreno, Mariana Cunha Artilheiro, André Macedo Serafim da Silva, Umbertina Conti Reed, Edmar Zanoteli   +7 more
openaire   +1 more source

LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy

Neurology, 2004
The authors report a girl with autosomal recessive congenital muscular dystrophy linked to chromosome 6 (MDC1A) who carries a homozygous out-of-frame deletion in exon 56 of the LAMA2 gene but has a mild phenotype. She is still ambulant at age 13 years, shows white matter abnormalities on MRI, and traces of laminin alpha2 in her muscle biopsy with one ...
PRANDINI P, BERARDINELLI A, FANIN M, MORELLO F, ZARDINI E, PICHIECCHIO A, UGGETTI C, LANZI G, ANGELINI, CORRADO, PEGORARO, ELENA   +9 more
openaire   +5 more sources

A novel deep intronic variant in LAMA2 identified by RNA sequencing

Neuromuscular Disorders
LAMA2-related muscular dystrophy is caused by pathogenic variants of the alpha2 subunit of Laminin. This common form of muscular dystrophy is characterized by elevated CK >1000IU/L, dystrophic changes on muscle biopsy, complete or partial absence of merosin staining, and both central and peripheral nervous system involvement.
Djurdja Djordjevic, Issa Alawneh, Kimberly Amburgey, Kyoko E. Yuki, Lianna G Kyriakopoulou, Vilma Navickiene, Jim Stavropoulos, Grace Yoon, James J Dowling, Hernan Gonorazky   +9 more
openaire   +2 more sources

CONGENITAL MUSCULAR DYSTROPHY: LAMA2

Neuromuscular Disorders, 2019
A. Foley, M. Leach, G. Averion, Y. Hu, P. Yun, S. Neuhaus, D. Saade, C. Arévalo, M. Fink, J. DeCoster, C. Mendoza, O. Mayer, R. Hausmann, D. Petraki, K. Cheung, C. Bönnemann   +15 more
openaire   +1 more source