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Page 1
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Trégouët DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G. Coutelier M, et al. Among authors: el hachimi kh. Brain. 2022 May 24;145(4):1519-1534. doi: 10.1093/brain/awab407. Brain. 2022. PMID: 34788392
Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination.
Duchesne A, Vaiman A, Frah M, Floriot S, Legoueix-Rodriguez S, Desmazières A, Fritz S, Beauvallet C, Albaric O, Venot E, Bertaud M, Saintilan R, Guatteo R, Esquerré D, Branchu J, Fleming A, Brice A, Darios F, Vilotte JL, Stevanin G, Boichard D, El Hachimi KH. Duchesne A, et al. Among authors: el hachimi kh. PLoS Genet. 2018 Aug 1;14(8):e1007550. doi: 10.1371/journal.pgen.1007550. eCollection 2018 Aug. PLoS Genet. 2018. PMID: 30067756 Free PMC article.
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
Klebe S, Lossos A, Azzedine H, Mundwiller E, Sheffer R, Gaussen M, Marelli C, Nawara M, Carpentier W, Meyer V, Rastetter A, Martin E, Bouteiller D, Orlando L, Gyapay G, El-Hachimi KH, Zimmerman B, Gamliel M, Misk A, Lerer I, Brice A, Durr A, Stevanin G. Klebe S, et al. Eur J Hum Genet. 2012 Jun;20(6):645-9. doi: 10.1038/ejhg.2011.261. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258533 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: el hachimi kh. Neurobiol Dis. 2003 Aug;13(3):230-7. doi: 10.1016/s0969-9961(03)00080-9. Neurobiol Dis. 2003. PMID: 12901837
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
Esteves T, Durr A, Mundwiller E, Loureiro JL, Boutry M, Gonzalez MA, Gauthier J, El-Hachimi KH, Depienne C, Muriel MP, Acosta Lebrigio RF, Gaussen M, Noreau A, Speziani F, Dionne-Laporte A, Deleuze JF, Dion P, Coutinho P, Rouleau GA, Zuchner S, Brice A, Stevanin G, Darios F. Esteves T, et al. Am J Hum Genet. 2014 Feb 6;94(2):268-77. doi: 10.1016/j.ajhg.2013.12.005. Epub 2014 Jan 2. Am J Hum Genet. 2014. PMID: 24388663 Free PMC article.
The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice.
Alves S, Cormier-Dequaire F, Marinello M, Marais T, Muriel MP, Beaumatin F, Charbonnier-Beaupel F, Tahiri K, Seilhean D, El Hachimi K, Ruberg M, Stevanin G, Barkats M, den Dunnen W, Priault M, Brice A, Durr A, Corvol JC, Sittler A. Alves S, et al. Among authors: el hachimi k. Acta Neuropathol. 2014 Nov;128(5):705-22. doi: 10.1007/s00401-014-1289-8. Epub 2014 May 24. Acta Neuropathol. 2014. PMID: 24859968
48 results