The extracellular matrix modulates olfactory neurite outgrowth on ensheathing cells [PDF]
, 1999 Primary olfactory axons grow along a stereotypical pathway from the nasal cavity to the olfactory bulb through an extracellular matrix rich in laminin and heparan sulfate proteoglycans (HSPGs) and bounded by the expression of chondroitin sulfate ...
Key, Brian, Tisay, Katarina T.
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Congenital muscular dystrophies: classification and diagnostic strategy
Нервно-мышечные болезни, 2015 Congenital muscular dystrophies (CMD) are a large group of genetically determined muscular diseases, initially defined by an early onset before the age of walking and dystrophic changes on myopathologic analyses.
François Rivier +5 more
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, 2017 Introduction: Merosin Deficient Congenital muscular dystrophy type 1A (MDC1A) is a rare kind of congenital muscular dystrophy. Case Presentation: Here we report a Chinese case with a genetic diagnosis exposing a novel point mutation and a novel exonic ...
L. Liang, Qigang Zhang, Xuefan Gu
semanticscholar +1 more source
Sodium and chloride channelopathies with myositis:Coincidence or connection? [PDF]
, 2011 Introduction: A proximal myopathy develops in some patients with muscle channelopathies, but the causative molecular mechanisms are unknown. Methods: We reviewed retrospectively all clinical and muscle biopsy findings of 3 patients with channelopathy and
Arzel-Hezode +22 more
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Cómo puede afectar el componente genético la lesionabilidad de los deportistas [PDF]
, 2015 El mundo del deporte y de la alta competición comporta un considerable riesgo de sufrir lesiones por su nivel de exigencia. Los programas de prevención son el principal objetivo a desarrollar y profundizar para minimizar el efecto de los factores de ...
Artells, Rosa, Pruna, Ricard
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Can human pluripotent stem cell-derived cardiomyocytes advance understanding of muscular dystrophies? [PDF]
, 2016 Muscular dystrophies (MDs) are clinically and molecularly a highly heterogeneous group of single-gene disorders that primarily affect striated muscles.
Denning, Chris +2 more
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PLoS ONE, 2012 Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. In patients, muscle weakness is usually present at or shortly after birth and is progressive in nature.
Vandana A Gupta +10 more
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The conserved transmembrane proteoglycan Perdido/Kon-tiki is essential for myofibrillogenesis and sarcomeric structure in Drosophila [PDF]
, 2016 This is an Open Access article distributed under the terms of the Creative Commons Attribution License.Muscle differentiation requires the assembly of high-order structures called myofibrils, composed of sarcomeres.
Bischoff, Marcus +3 more
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Becker′s Muscular Dystrophy-A Case Report
Annals of Indian Academy of Neurology, 1998 A case of Becker′s Muscular dystrophy (BMD) in a 26-year-old male is reported. Muscle biopsy immunohistochemical staining showed absence of labelling for dystrophin along the sacrolemmal membrane in majority of the fibres.
Rajendran P +3 more
doaj
Izomdystrophiák differenciál-diagnosztikai vizsgálata molekuláris genetikai, valamint immunhisztokémiai és immunoblot analízisek segítségével = Differential diagnostic study of muscle dystrophies by molecular genetic, immunohystochemical and Western-blot analyses [PDF]
, 2007 A DMD/BMD betegségben célul tűzték ki a cDNS próbák alkalmazását a hordozósági státusz vizsgálatára és a deléciók pontos méretének meghatározására. Az újonnan bevezetett MLPA módszer segítségével a teljes dystrophin gén feltérképezésére, bizonyos pont ...
Balog, Judit +7 more
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