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Neurology|May 1, 1996
Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathyP Labrune, C Lacroix, F Goutières, et al.Annals of Neurology|October 12, 2000
Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutationV Pingault, A Guiochon-Mantel, N Bondurand, et al.Cell Motility and the Cytoskeleton|January 1, 1996
Aggregation of a subpopulation of vimentin filaments in cultured human skin fibroblasts derived from patients with giant axonal neuropathyO Bousquet, M Basseville, E Vila-Porcile, et al.Journal of Inherited Metabolic Disease|January 1, 1995
Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-upJ Amiel, J C Maziere, I Beucler, et al.Pediatric Research|August 14, 1999
Hematologic involvement in mitochondrial cytopathies in childhood: a retrospective study of bone marrow smearsB Bader-Meunier, F Miélot, J Breton-Gorius, et al.Proceedings of the National Academy of Sciences of the United States of America|September 1, 1991
Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipidD Pham-Dinh, J L Popot, O Boespflug-Tanguy, et al.Human Mutation|January 8, 2000
New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy. Mutations in brief no. 151. OnlineA M Misrahi, V Plante, T Lalu, et al.Journal of Neurology, Neurosurgery, and Psychiatry|July 19, 2001
Efficacy of high dose steroid therapy in children with severe acute transverse myelitisP Defresne, L Meyer, M Tardieu, et al.Neuropediatrics|August 25, 2001
Respiratory chain deficiency in Alpers syndromeM Gauthier-Villars, P Landrieu, V Cormier-Daire, et al.The Journal of Clinical Investigation|June 1, 1994
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiencyT Bourgeron, D Chretien, J Poggi-Bach, et al.Pageof 12