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Page 1
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
Mignot C, Apartis E, Durr A, Marques Lourenço C, Charles P, Devos D, Moreau C, de Lonlay P, Drouot N, Burglen L, Kempf N, Nourisson E, Chantot-Bastaraud S, Lebre AS, Rio M, Chaix Y, Bieth E, Roze E, Bonnet I, Canaple S, Rastel C, Brice A, Rötig A, Desguerre I, Tranchant C, Koenig M, Anheim M. Mignot C, et al. Among authors: lebre as. Orphanet J Rare Dis. 2013 Oct 28;8:173. doi: 10.1186/1750-1172-8-173. Orphanet J Rare Dis. 2013. PMID: 24164873 Free PMC article.
PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases.
Takahashi J, Fujigasaki H, Iwabuchi K, Bruni AC, Uchihara T, El Hachimi KH, Stevanin G, Dürr A, Lebre AS, Trottier Y, de Thé H, Tanaka J, Hauw JJ, Duyckaerts C, Brice A. Takahashi J, et al. Among authors: lebre as. Neurobiol Dis. 2003 Aug;13(3):230-7. doi: 10.1016/s0969-9961(03)00080-9. Neurobiol Dis. 2003. PMID: 12901837
Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions.
Seilhean D, Takahashi J, El Hachimi KH, Fujigasaki H, Lebre AS, Biancalana V, Dürr A, Salachas F, Hogenhuis J, de Thé H, Hauw JJ, Meininger V, Brice A, Duyckaerts C. Seilhean D, et al. Among authors: lebre as. Acta Neuropathol. 2004 Jul;108(1):81-7. doi: 10.1007/s00401-004-0855-x. Epub 2004 Apr 27. Acta Neuropathol. 2004. PMID: 15114487
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.
Boddaert N, Romano S, Funalot B, Rio M, Sarzi E, Lebre AS, Bahi-Buisson N, Valayannopoulos V, Desguerre I, Seidenwurm D, Brunelle F, Brami-Zylberberg F, Rötig A, Munnich A, de Lonlay P. Boddaert N, et al. Among authors: lebre as. Mol Genet Metab. 2008 Jan;93(1):85-8. doi: 10.1016/j.ymgme.2007.09.003. Epub 2007 Oct 22. Mol Genet Metab. 2008. PMID: 17950645
78 results