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Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A). [PDF]
Fabian L, Dowling JJ.
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Distinct muscle regenerative capacity of human induced pluripotent stem cell-derived mesenchymal stromal cells in Ullrich congenital muscular dystrophy model mice. [PDF]
Yokomizo-Goto M +12 more
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Randomized trial of lung hyperinflation therapy in children with congenital muscular dystrophy. [PDF]
Sawnani H +11 more
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Congenital muscular dystrophies
Current Opinion in Neurology, 1995Considerable advances in the understanding of congenital muscular dystrophy made during the past year may allow a new clinical classification of this disease. In particular, (1) evidence has accumulated to suggest that a laminin alpha2-chain (alpha2 subunit of laminin-2 or merosin) deficiency causes a type of congenital muscular dystrophy, and (2) it ...
K, Arahata, H, Ishii, Y K, Hayashi
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The Journal of Pediatrics, 1989
We report the cases of 18 patients with congenital muscular dystrophy, six of whom also have involvement of the central nervous system, corresponding to the Fukuyama type of congenital muscular dystrophy. In four patients, both the central nervous system and the eyes are involved, and the diagnosis of "muscle, eye and brain disease" was made.
Q H, Leyten +5 more
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We report the cases of 18 patients with congenital muscular dystrophy, six of whom also have involvement of the central nervous system, corresponding to the Fukuyama type of congenital muscular dystrophy. In four patients, both the central nervous system and the eyes are involved, and the diagnosis of "muscle, eye and brain disease" was made.
Q H, Leyten +5 more
openaire +2 more sources
Congenital muscular dystrophies
Seminars in Pediatric Neurology, 2002The number of new syndromes, loci, and genes responsible for CMD forms has dramatically increased in the last few years, and it has become increasingly evident that the classification of the different forms of CMD is a difficult task. A recent classification separated the forms of CMD that have been mapped (CMD diseases) from the ones with clearly ...
Eugenio, Mercuri +3 more
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Congenital muscular dystrophy with syringomyelia
Pediatric Neurology, 1994We report a 7-year-old boy with congenital muscular dystrophy with severe spinal deformation and low thoracic syringomyelia, which may represent a novel form of the disease with muscle involvement and spinal cord anomaly. We suggest that patients with congenital muscular dystrophy who manifest skeletal anomalies undergo spinal magnetic resonance ...
Parano E +3 more
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