Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Christophe Guiraud-Chaumeil"'
Autor:
Philippe Charron, Pascale Richard, Eric Epailly, Christophe Guiraud-Chaumeil, Michel Mohr, Andoni Echaniz-Laguna, Ichizo Nishino, Christine Tranchant
Publikováno v:
Muscle & Nerve. 33:393-397
Lysosome-associated membrane protein-2 deficiency (LAMP-2 deficiency), or Danon disease, is a rare X-linked lysosomal disease characterized by cardiomyopathy, vacuolar myopathy, and mental retardation. Less than 20 families with mutations of the Lamp
Autor:
Jinpei Sugano, Ruth Gershoni-Barush, Christophe Guiraud-Chaumeil, Michel Koenig, Makoto Tanaka, Mitsunory Watanabe, Pascale Bomont, Masami Shizuka
Publikováno v:
European Journal of Human Genetics. 8:986-990
With the availability of a simple molecular test that distinguishes Friedreich ataxia, the most frequent form of inherited ataxia, from other recessive ataxias, it now becomes possible to unravel the genetic heterogeneity of the latter. We have now l
Autor:
J. L. Mandel, Serge Vicaire, Sabina Liechti-Gallati, François Blondeau, Jocelyn Laporte, Stephan M. Tanner, Christophe Guiraud-Chaumeil, Ling-Jia Hu
Publikováno v:
European Journal of Human Genetics. 6:325-330
X-linked recessive myotubular myopathy (XLMTM) is a very severe congenital muscular disease characterised by an impaired maturation of muscle fibres, and caused by defects in the MTM1 gene. This gene defines a new family of putative tyrosine phosphat
Publikováno v:
Human Mutation. 11:62-68
X-linked recessive myotubular myopathy (XLMTM; MTM1) is a severe neonatal disorder often causing perinatal death of the affected males. The responsible gene, designated MTM1, was localized to proximal Xq28 and recently isolated. The characterization
Publikováno v:
Human Mutation. 11:62-68
Autor:
Jean-Louis Mandel, S Manouvrier-Hanu, Christophe Guiraud-Chaumeil, Jocelyn Laporte, Marie Vincent
Publikováno v:
Journal of Medical Genetics. 35:241-243
A family with two male cousins affected with myotubular myopathy (MTM) was referred to us for genetic counselling. Linkage analysis appeared to exclude the Xq28 region. As a gene for X linked MTM was recently identified in Xq28, we screened the oblig
Autor:
Marie Vincent, Jean-Louis Mandel, Christophe Guiraud-Chaumeil, Michel Fardeau, F. Samson, Jocelyn Laporte
Publikováno v:
The American Journal of Human Genetics. 60:1542-1544
Myotubular myopathy is a severe congenital disease inherited as an X-linked trait (MTM1; McKusick 31040). It has been mapped to the long arm of chromosome X, to the Xq27-28 region. Significant linkage has subsequently been established for the linkage
Autor:
Christine Tranchant, Christophe Guiraud-Chaumeil, André Reeber, Judith Melki, Jean-Marie Warter, Andoni Echaniz-Laguna
Publikováno v:
Journal of neurology. 249(3)
Mutations in the telomeric copy of the SMN gene (SMN1) are responsible for almost all infantile motor neuron disease (MND). In contrast, the role of the centromeric copy of the SMN gene (SMN2) in MND remains unclear. We searched for deletions of SMN1
Publikováno v:
Journal of neurology. 247(11)
Clonidine, a centrally active alpha 2-adrenoreceptor agonist used to lower blood pressure, has been proposed to differentiate central from peripheral autonomic deficits and multiple system atrophy (MSA) from untreated idiopathic Parkinson's disease (