Results 51 to 60 of about 3,572 (228)

Ulnar neuropathy at the elbow [PDF]

open access: yes, 2014
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/106702/1/mus24138 ...
Descatha   +5 more
core   +1 more source

Anesthetic Care of a Child With Merosin-Deficient Muscular Dystrophy

open access: yesJournal of Medical Cases, 2020
Merosin-deficient congenital muscular dystrophy (MDCMD) is a progressive autosomal recessive disorder caused by the lack of expression of the α2-chain of laminin-211 glycoprotein.
D. Munlemvo, A. Kanaparthi, J. Tobias
semanticscholar   +1 more source

Review: Dystroglycan in the Nervous System [PDF]

open access: yes, 2007
Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
core   +2 more sources

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window? [PDF]

open access: yes, 2016
LARGE is a glycosyltransferase involved in glycosylation of α-dystroglycan (α-DG). Absence of this protein in the LARGEmyd mouse results in α-DG hypoglycosylation, and is associated with central nervous system abnormalities and progressive muscular ...
A Brancaccio   +54 more
core   +7 more sources

Pro-neurotrophins secreted from retinal ganglion cell axons are necessary for ephrinA-p75NTR-mediated axon guidance [PDF]

open access: yes, 2010
Background: Retinotectal map formation develops via topographically specific guidance and branching of retinal axons in their target area. This process is controlled, in part, by reverse signalling of ephrinAs expressed on retinal axons.
Corinna Wentzel   +4 more
core   +2 more sources

MEROSIN-DEFICIENT CONGENITAL MUSCULAR DYSTROPHY (CMD1A): CLINICAL CASE OF CONGENITAL MUSCULAR DYSTROPHY INVOLVING CENTRAL NERVOUS SYSTEM

open access: yesПедиатрическая фармакология, 2014
Congenital muscular dystrophies (CMDs) are an extremely heterogenous group of neuromuscular diseases. The article presents the general information on clinical and pathogenetic aspects of CMD diagnosis with emphasis on one of the most common forms of ...
O. A. Klochkova   +2 more
doaj   +1 more source

LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models

open access: yesFrontiers in Molecular Neuroscience, 2020
Merosin deficient Congenital Muscular Dystrophy (MDC1A), or LAMA2-related muscular dystrophy (LAMA2-RD), is a recessive disorder resulting from mutations in the LAMA2 gene, encoding for the alpha-2 chain of laminin-211.
Stefano Carlo Previtali   +2 more
doaj   +1 more source

O'zbekiston me'morchilik merosining shakllanishi

open access: yes, 2022
Maqolada, O‘zbekiston me’morchiligi merosida minora va minorasimon inshootlarni qadimdan shakllangan namunalari, xududimizning turli shahar va maskanlari me’moriy tizimida alohida o‘rin tutgan. Sharq me’morchiligida minoralarni turli me’moriy yechimi va funksional sifatiga ega bo‘lgan ko‘plab namunalari bunyod etilgani haqida xikoya qilinadi.
openaire   +1 more source

Dystrophin-glycoproteins associated in congenital muscular dystrophy: immunohistochemical analysis of 59 Brazilian cases Complexo distrofina-glicoproteínas associadas na distrofia muscular congênita: análise imuno-histoquímica em 59 casos

open access: yesArquivos de Neuro-Psiquiatria, 2005
The congenital muscular dystrophies (CMD) are heterogeneous muscular diseases with early and dystrophic pattern on muscle biopsy. Many different subtypes have been genetically identified and most phenotypes not yet identified belong to the merosin ...
Lucio Gobbo Ferreira   +6 more
doaj   +1 more source

Genetic Correction of Dystrophin Deficiency and Skeletal Muscle Remodeling in Adult MDX Mouse via Transplantation of Retroviral Producer Cells [PDF]

open access: yes, 1997
Duchenne muscular dystrophy (DMD) is an X-linked, lethal disease caused by mutations of the dystrophin gene. No effective therapy is available, but dystrophin gene transfer to skeletal muscle has been proposed as a treatment for DMD.
Brown, Susan   +5 more
core   +1 more source

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