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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 2
1991 1
1992 1
1994 2
1997 1
1998 1
2000 1
2001 2
2002 1
2003 1
2004 5
2005 1
2006 1
2007 2
2010 1
2011 1
2012 2
2013 1
2014 2
2016 1
2017 2
2018 4
2019 1
2021 1
2022 3
2023 1
2024 1
2025 1

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42 results

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Page 1
Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout mice.
Fortier M, Cauhapé M, Buono S, Becker J, Menuet A, Branchu J, Ricca I, Mero S, Dorgham K, El Hachimi KH, Dobrenis K, Colsch B, Samaroo D, Devaux M, Durr A, Stevanin G, Santorelli FM, Colombo S, Cowling B, Darios F. Fortier M, et al. Among authors: el hachimi kh. Neurobiol Dis. 2024 Sep;199:106564. doi: 10.1016/j.nbd.2024.106564. Epub 2024 Jun 12. Neurobiol Dis. 2024. PMID: 38876323 Free article.
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
Alterations of Neuronal Lysosomes in Alzheimer's Disease and in APPxPS1-KI Mice.
Androuin A, Thierry M, Boluda S; Brainbank NeuroCEB Neuropathology Network; Baskaran A, Langui D, Duyckaerts C, Potier MC, El Hachimi KH, Delatour B, Marty S. Androuin A, et al. Among authors: el hachimi kh. J Alzheimers Dis. 2022;87(1):273-284. doi: 10.3233/JAD-215692. J Alzheimers Dis. 2022. PMID: 35275545 Free article.
Implication of folate deficiency in CYP2U1 loss of function.
Pujol C, Legrand A, Parodi L, Thomas P, Mochel F, Saracino D, Coarelli G, Croon M, Popovic M, Valet M, Villain N, Elshafie S, Issa M, Zuily S, Renaud M, Marelli-Tosi C, Legendre M, Trimouille A, Kemlin I, Mathieu S, Gleeson JG, Lamari F, Galatolo D, Alkouri R, Tse C, Rodriguez D, Ewenczyk C, Fellmann F, Kuntzer T, Blond E, El Hachimi KH, Darios F, Seyer A, Gazi AD, Giavalisco P, Perin S, Boucher JL, Le Corre L, Santorelli FM, Goizet C, Zaki MS, Picaud S, Mourier A, Steculorum SM, Mignot C, Durr A, Trifunovic A, Stevanin G. Pujol C, et al. Among authors: el hachimi kh. J Exp Med. 2021 Nov 1;218(11):e20210846. doi: 10.1084/jem.20210846. Epub 2021 Sep 21. J Exp Med. 2021. PMID: 34546337 Free PMC article.
Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis.
Boutry M, Pierga A, Matusiak R, Branchu J, Houllegatte M, Ibrahim Y, Balse E, El Hachimi KH, Brice A, Stevanin G, Darios F. Boutry M, et al. Among authors: el hachimi kh. Commun Biol. 2019 Oct 17;2:380. doi: 10.1038/s42003-019-0615-z. eCollection 2019. Commun Biol. 2019. PMID: 31637311 Free PMC article.
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
Durand CM, Dhers L, Tesson C, Tessa A, Fouillen L, Jacqueré S, Raymond L, Coupry I, Benard G, Darios F, El-Hachimi KH, Astrea G, Rivier F, Banneau G, Pujol C, Lacombe D, Durr A, Babin PJ, Santorelli FM, Pietrancosta N, Boucher JL, Mansuy D, Stevanin G, Goizet C. Durand CM, et al. Among authors: el hachimi kh. Hum Mutat. 2018 Jan;39(1):140-151. doi: 10.1002/humu.23359. Epub 2017 Nov 11. Hum Mutat. 2018. PMID: 29034544 Free article.
CNS-associated T-lymphocytes in a mouse model of Hereditary Spastic Paraplegia type 11 (SPG11) are therapeutic targets for established immunomodulators.
Hörner M, Groh J, Klein D, Ilg W, Schöls L, Dos Santos S, Bergmann A, Klebe S, Cauhape M, Branchu J, El Hachimi KH, Stevanin G, Darios F, Martini R. Hörner M, et al. Among authors: el hachimi kh. Exp Neurol. 2022 Sep;355:114119. doi: 10.1016/j.expneurol.2022.114119. Epub 2022 May 20. Exp Neurol. 2022. PMID: 35605667
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noé E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, El Hachimi KH, Meisler MH, Leguern E. Baulac S, et al. Among authors: el hachimi kh. Neurology. 2014 Mar 25;82(12):1068-75. doi: 10.1212/WNL.0000000000000241. Epub 2014 Mar 5. Neurology. 2014. PMID: 24598713 Free PMC article.
Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration.
Boutry M, Branchu J, Lustremant C, Pujol C, Pernelle J, Matusiak R, Seyer A, Poirel M, Chu-Van E, Pierga A, Dobrenis K, Puech JP, Caillaud C, Durr A, Brice A, Colsch B, Mochel F, El Hachimi KH, Stevanin G, Darios F. Boutry M, et al. Among authors: el hachimi kh. Cell Rep. 2018 Jun 26;23(13):3813-3826. doi: 10.1016/j.celrep.2018.05.098. Cell Rep. 2018. PMID: 29949766 Free PMC article.
42 results