Results 81 to 90 of about 3,708 (153)

Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy

The Application of Clinical Genetics, 2019
Quynh Nguyen,*,1 Kenji Rowel Q Lim,*,1 Toshifumi Yokota,1,21Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada; 2The Friends of Garrett Cumming Research & Muscular Dystrophy Canada,
Nguyen Q, Lim KRQ, Yokota T
doaj  

Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD

Human Molecular Genetics, 2019
AbstractCongenital muscular dystrophy type-1A (Lama2-CMD) and Duchenne muscular dystrophy (DMD) result from deficiencies of laminin-α2 and dystrophin proteins, respectively. Although both proteins strengthen the sarcolemma, they are implicated in clinically distinct phenotypes.
Nurit, Yanay, Moran, Elbaz, Jenya, Konikov-Rozenman, Sharona, Elgavish, Yuval, Nevo, Yakov, Fellig, Malcolm, Rabie, Stella, Mitrani-Rosenbaum, Yoram, Nevo   +8 more
openaire   +2 more sources

LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient

Case Reports in Genetics, 2018
Congenital muscle dystrophies (CMD) are genetically and clinically heterogeneous hereditary myopathies mainly with autosomal recessive type of inheritance.
Ivanka Dimova, Ivo Kremensky
doaj   +1 more source

Abstracts

Molecular Oncology, Volume 20, Issue S1, Page 1-692, August 2026.
Abstracts submitted to the ‘EACR 2026 Congress: Innovative Cancer Science’, from 08–11 June 2026 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

Epilepsy, epileptiform discharges and features of brain magnetic resonance imaging in merosin-deficient muscular dystrophy

Эпилепсия и пароксизмальные состояния
Background. Merosin-deficient muscular dystrophy (MDMD) is a neuromuscular disease resulting from the emergence of biallelic variants in the LAMA2 gene and manifested by progressive muscle weakness, diffuse hypotonia, impaired posture, contractures of ...
A. V. Monakhova, E. D. Belousova, Z. K. Gorchkhanova   +2 more
doaj   +1 more source

Thrombospondin-4 deletion does not exacerbate muscular dystrophy in β-sarcoglycan-deficient and laminin α2 chain-deficient mice

Scientific Reports
Muscular dystrophy is a group of genetic disorders that lead to muscle wasting and loss of muscle function. Identifying genetic modifiers that alleviate symptoms or enhance the severity of a primary disease helps to understand mechanisms behind disease ...
Paula Zarén, Kinga I. Gawlik
doaj   +1 more source

Preserved satellite cell pool in a laminin-α2-deficient model of congenital muscular dystrophy. [PDF]

Dis Model Mech
Coelho LA, Ribeiro Junior AF, Nogueira Feitosa L, Galante Rocha de Vasconcelos FT, Carvalho Bezerra J, Vainzof M.   +5 more
europepmc   +1 more source

Clinical and functional outcome measures in LAMA2-related muscular dystrophy and SELENON-related myopathy; a 1.5-year natural history study. [PDF]

J Neuromuscul Dis
de Laat ECM, Groothuis JT, Bouman K, Houwen-van Opstal SLS, Erasmus CE, Voermans NC.   +5 more
europepmc   +1 more source

Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis. [PDF]

Acta Myol, 2020
Magri F, Brusa R, Bello L, Peverelli L, Del Bo R, Govoni A, Cinnante C, Colombo I, Fortunato F, Tironi R, Corti S, Grimoldi N, Sciacco M, Bresolin N, Pegoraro E, Moggio M, Comi GP.   +16 more
europepmc   +1 more source

Genome-wide association study reveals candidate genes associated with body weight and wool traits in Ordos fine-wool sheep. [PDF]

Front Vet Sci
Zhang L, Gu Y, He X, Wang B, Da L, De D, Te R, Liu Y, Fu S.   +8 more
europepmc   +1 more source