Results 171 to 180 of about 3,572 (228)

On RNA-programmable gene modulation as a versatile set of principles targeting muscular dystrophies. [PDF]

Mol Ther
Capelletti S, García Soto SC, Gonçalves MAFV.   +2 more
europepmc   +1 more source

A Neonatal Case of Hemorrhagic Shock Due to Congenital Hemangioma. [PDF]

Cureus
Kudo M, Akasaka M, Sakuraba M, Murakami Y, Kusano S.   +4 more
europepmc   +1 more source

Germline mutations in are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome [PDF]

core   +1 more source

Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy [PDF]

マツムラ, ツヨシ, 松村, 剛
core  

An Extremely Rare LAMA2 Gene Variant c.442C>T (p.Arg148Trp) Causing Late-Onset LAMA2-Related Dystrophy. [PDF]

Cureus
Saluja A, Ghotekar LH, Anees S, Haque A, Dhamija RK.   +4 more
europepmc   +1 more source

Multiple Gastrointestinal Haemangiomatosis: A Report of Two Cases. [PDF]

Afr J Paediatr Surg
Adefarakan S, Tshifularo N.
europepmc   +1 more source

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Myelin abnormalities in merosin‐deficient congenital muscular dystrophy

Muscle & Nerve, 2023
Merosin is a protein complex located in the basement membrane of skeletal muscles and laminin α2‐containing regions of the central and peripheral nervous systems.
Yoshihiko Saito, Akihiko Ishiyama, Yuko Saito, Hirofumi Komaki, Masayuki Sasaki   +4 more
semanticscholar   +3 more sources

Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy

Fetal and Pediatric Pathology, 2018
Goal: We evaluated the potential for prenatal diagnosis of merosin-negative muscular dystrophies by immunohistochemistry. Materials and Methods: This is a retrospective study of 12 pregnancies with merosin-negative muscular dystrophy in a prior child ...
E. Fadıloğlu, G. Ozten, Canan Unal, B. Talim, H. Topaloğlu, M. Beksaç   +5 more
semanticscholar   +3 more sources

Merosin and congenital muscular dystrophy

Microscopy Research and Technique, 2000
Merosin (also called as Laminin-2) is an isoform of laminin comprised of the alpha2, beta1 and gamma1 chains. In European populations, half of the patients with classical congenital muscular dystrophy have mutations of the LAMA2 gene (6q22-23) and present reduced or absence of laminin alpha2 chain.
Y, Miyagoe-Suzuki, M, Nakagawa, S, Takeda   +2 more
openaire   +2 more sources