Results 51 to 60 of about 3,092 (251)
Педиатрическая 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
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Arquivos 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
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LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models
Frontiers 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
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Review: Dystroglycan in the Nervous System [PDF]
, 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
Diagnosis of Congenital Muscular Dystrophy
Pediatric Neurology Briefs, 1996 Patterns of alkaline and acid phosphatases were compared with the distribution of merosin and dystrophin staining in muscle biopsies from 20 children with congenital muscular dystrophy (CMD) examined at the Department of Neurology, Washington University ...
J Gordon Millichap
doaj +1 more source
Natural disease history of the dy2J mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy. [PDF]
PLoS ONE, 2018 Merosin deficient congenital muscular dystrophy 1A (MDC1A) is a very rare autosomal recessive disorder caused by mutations in the LAMA2 gene leading to severe and progressive muscle weakness and atrophy.
S Pasteuning-Vuhman +8 more
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The FEBS Journal, EarlyView.Basement membrane (BM) homeostasis relies on a balance between integrity, controlled remodelling and pathological degradation. Increased protease expression beneath the BM, along with reduced levels of endogenous protease inhibitors, drives the transition from a continuous, protective barrier to a discontinuous interface.
Clara Legendre +2 more
wiley +1 more source
A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy [PDF]
, 2017 K
Ajzner, Éva +8 more
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Native chick laminin-4 containing the beta 2 chain (s-laminin) promotes motor axon growth. [PDF]
, 1996 After denervation of muscle, motor axons reinnervate original synaptic sites. A recombinant fragment of the synapse specific laminin beta 2 chain (s-laminin) was reported to inhibit motor axon growth.
Brandenberger, R +3 more
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Pro-neurotrophins secreted from retinal ganglion cell axons are necessary for ephrinA-p75NTR-mediated axon guidance [PDF]
, 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
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