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Archives Francaises De Pediatrie|August 1, 1982
[Thyroid involvement in histiocytosis X]F Deméocq, O Boespflug, P Vanlieferinghen, et al.
Annals of Human Genetics|February 26, 2008
Exon deletion in the non-catalytic domain of eIF2Bepsilon due to a splice site mutation leads to infantile forms of CACH/VWM with severe decrease of eIF2B GEF activityL Horzinski, C Gonthier, D Rodriguez, et al.
Biochimica Et Biophysica Acta|February 14, 1995
Enzymatic activities of mitochondrial respiratory complexes from children muscular biopsies. Age-related evolutionsE Lefai, A Terrier-Cayre, A Vincent, et al.
Neurology|December 25, 2002
A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutationA Fogli, C Dionisi-Vici, F Deodato, et al.
FEBS Letters|September 16, 1996
No alteration in gene expression of components of the ubiquitin-proteasome proteolytic pathway in dystrophin-deficient musclesL Combaret, D Taillandier, L Voisin, et al.
Cellular and Molecular Life Sciences : CMLS|February 11, 2004
Alexander disease: putative mechanisms of an astrocytic encephalopathyC Mignot, O Boespflug-Tanguy, A Gelot, et al.
Neuroscience|December 29, 2009
Novel neuronal proteolipid protein isoforms encoded by the human myelin proteolipid protein 1 geneC Sarret, P Combes, P Micheau, et al.
Magnetic Resonance Imaging|March 21, 1998
Characterization in vivo of muscle fiber types by magnetic resonance imagingJ M Bonny, M Zanca, O Boespflug-Tanguy, et al.
Nature Genetics|January 4, 2001
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander diseaseM Brenner, A B Johnson, O Boespflug-Tanguy, et al.
American Journal of Human Genetics|July 27, 1999
Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating DiseaseC Mimault, G Giraud, V Courtois, et al.
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