Results 221 to 230 of about 3,092 (251)

Prenatal diagnosis in merosin-deficient congenital muscular dystrophy

Neuromuscular Disorders, 1997
Prenatal diagnosis was carried out in five merosin-deficient congenital muscular dystrophy (CMD) families. We studied both laminin-alpha 2 chain expression in trophoblast using immunocytochemistry and linkage analysis to the LAMA2 locus. In four families there was good agreement between the immunocytochemistry and linkage analysis results: in one case ...
Naom I., Sewry C., D'Alessandro M., Topaloglu H., FERLINI, Alessandra, Wilson L., Dubowitz V., Muntoni F.   +7 more
openaire   +2 more sources

Nonmuscular involvement in merosin-negative congenital muscular dystrophy

Pediatric Neurology, 2002
The spectrum of nonmuscular involvement in six children with merosin-negative congenital muscular dystrophy is described. In all children, biochemical, neuroradiologic, cardiac, and neurophysiologic studies were performed. Cerebral structures that were myelinated at gestation, including internal capsule, corpus callosum, brainstem, and cerebellar white
Gilhuis, H.J., Donkelaar, H.J. ten, Tanke, R.B., Vingerhoets, D.M., Zwarts, M.J., Verrips, A., Gabreëls, F.J.M.   +6 more
openaire   +3 more sources

Congenital muscular dystrophy with merosin deficiency.

Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie, 1995
Congenital muscular dystrophy is one of the most frequent and severe childhood muscular dystrophies. Several forms of this disease have been described. The form associated with marked central nervous system disturbances, frequent in Japan, is known as Fukuyama congenital muscular dystrophy and was recently linked to chromosome 9. The most frequent form
F M, Tomé, T, Evangelista, A, Leclerc, Y, Sunada, E, Manole, B, Estournet, A, Barois, K P, Campbell, M, Fardeau   +8 more
openaire   +1 more source

Merosin and Laminin

Annals of the New York Academy of Sciences, 1990
K, Ehrig, I, Leivo, E, Engvall
openaire   +2 more sources

THE PATHOLOGICAL SPECTRUM OF MEROSIN DEFICIENCY

Journal of Neuropathology and Experimental Neurology, 1996
Robert E. Mrak, Eric P. Hoffman, Elena Pegaro, Pedro Mancías   +3 more
openaire   +1 more source

The Pathologic Spectrum of Merosin Deficiency

Journal of Child Neurology, 1998
openaire   +2 more sources

262 Merosine-positive congenital dystrophies

European Journal of Paediatric Neurology, 1999
B. Estournet-Mathiaud, A. Barois, J. Bataille   +2 more
openaire   +1 more source

MEROSIN DEFICIENCY IN CONGENITAL MUSCULAR DYSTROPHY

Journal of Neuropathology and Experimental Neurology, 1997
A. L. Taratuto, F. Lubienecki, A. Dubrovsky, L. Mesa, M. C. Rivero, V. Ruggeri, G. Sevlever, P. Garrahan   +7 more
openaire   +1 more source

Merosin

2008
openaire   +1 more source

Peripheral neuropathy in merosin-negative muscular dystrophy.

2004
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Gilhuis, H.J., Brouwer, O.F., Verrips, A., Zwarts, M.J.   +3 more
openaire   +1 more source