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Items: 34

1.

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.

PLoS Genet. 2018 Aug 1;14(8):e1007550. doi: 10.1371/journal.pgen.1007550. eCollection 2018 Aug.

2.

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.

Cell Rep. 2018 Jun 26;23(13):3813-3826. doi: 10.1016/j.celrep.2018.05.098.

3.

Evidence for altered dendritic spine compartmentalization in Alzheimer's disease and functional effects in a mouse model.

Androuin A, Potier B, Nägerl UV, Cattaert D, Danglot L, Thierry M, Youssef I, Triller A, Duyckaerts C, El Hachimi KH, Dutar P, Delatour B, Marty S.

Acta Neuropathol. 2018 Jun;135(6):839-854. doi: 10.1007/s00401-018-1847-6. Epub 2018 Apr 25.

PMID:
29696365
4.

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.

Hum Mutat. 2018 Jan;39(1):140-151. doi: 10.1002/humu.23359. Epub 2017 Nov 11.

PMID:
29034544
5.

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration.

Branchu J, Boutry M, Sourd L, Depp M, Leone C, Corriger A, Vallucci M, Esteves T, Matusiak R, Dumont M, Muriel MP, Santorelli FM, Brice A, El Hachimi KH, Stevanin G, Darios F.

Neurobiol Dis. 2017 Jun;102:21-37. doi: 10.1016/j.nbd.2017.02.007. Epub 2017 Feb 22.

6.

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.

Denora PS, Smets K, Zolfanelli F, Ceuterick-de Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P, Santorelli FM, Stevanin G, Martin JJ, El Hachimi KH.

Brain. 2016 Jun;139(Pt 6):1723-34. doi: 10.1093/brain/aww061. Epub 2016 Mar 25.

7.

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.

Neurology. 2014 Mar 25;82(12):1068-75. doi: 10.1212/WNL.0000000000000241. Epub 2014 Mar 5.

8.

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.

Am J Hum Genet. 2014 Feb 6;94(2):268-77. doi: 10.1016/j.ajhg.2013.12.005. Epub 2014 Jan 2.

9.

Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice.

Chort A, Alves S, Marinello M, Dufresnois B, Dornbierer JG, Tesson C, Latouche M, Baker DP, Barkats M, El Hachimi KH, Ruberg M, Janer A, Stevanin G, Brice A, Sittler A.

Brain. 2013 Jun;136(Pt 6):1732-45. doi: 10.1093/brain/awt061. Epub 2013 Mar 21.

PMID:
23518714
10.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, Elmalik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G.

Am J Hum Genet. 2012 Dec 7;91(6):1051-64. doi: 10.1016/j.ajhg.2012.11.001. Epub 2012 Nov 21.

11.

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.

Eur J Hum Genet. 2012 Jun;20(6):645-9. doi: 10.1038/ejhg.2011.261. Epub 2012 Jan 18.

12.

Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia.

Murmu RP, Martin E, Rastetter A, Esteves T, Muriel MP, El Hachimi KH, Denora PS, Dauphin A, Fernandez JC, Duyckaerts C, Brice A, Darios F, Stevanin G.

Mol Cell Neurosci. 2011 Jul;47(3):191-202. doi: 10.1016/j.mcn.2011.04.004. Epub 2011 Apr 27.

PMID:
21545838
13.

Prokineticin 2 expression is associated with neural repair of injured adult zebrafish telencephalon.

Ayari B, El Hachimi KH, Yanicostas C, Landoulsi A, Soussi-Yanicostas N.

J Neurotrauma. 2010 May;27(5):959-72. doi: 10.1089/neu.2009.0972.

PMID:
20102264
14.

Alpha-synuclein accumulates in the brain of scrapie-affected sheep and goats.

Adjou KT, Allix S, Ouidja MO, Backer S, Couquet C, Cornuejols MJ, Deslys JP, Brugère H, Brugère-Picoux J, El-Hachimi KH.

J Comp Pathol. 2007 Jul;137(1):78-81. doi: 10.1016/j.jcpa.2007.03.007. Epub 2007 Jun 4.

PMID:
17544436
15.

Developmental cell death is enhanced in the cerebral cortex of mice lacking the brain vesicular monoamine transporter.

Stankovski L, Alvarez C, Ouimet T, Vitalis T, El-Hachimi KH, Price D, Deneris E, Gaspar P, Cases O.

J Neurosci. 2007 Feb 7;27(6):1315-24.

16.

Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity.

Latouche M, Fragner P, Martin E, El Hachimi KH, Zander C, Sittler A, Ruberg M, Brice A, Stevanin G.

Mol Cell Neurosci. 2006 Mar;31(3):438-45. Epub 2005 Dec 1.

PMID:
16325416
17.

[Familial fronto-temporal dementia with brain stem ubiquitin-positive neuronal inclusions].

Bruni AC, Kawarai T, Spillantini MG, St-George Hyslop PH, Leotta A, Lio S, Foncin JF, El Hachimi KH.

Rev Neurol (Paris). 2004 Dec;160(12):1171-9. French.

PMID:
15602363
18.

Subcellular topography of neuronal Abeta peptide in APPxPS1 transgenic mice.

Langui D, Girardot N, El Hachimi KH, Allinquant B, Blanchard V, Pradier L, Duyckaerts C.

Am J Pathol. 2004 Nov;165(5):1465-77.

19.

Ultrastructural localization of parkin in the rat brainstem, thalamus and basal ganglia.

Mouatt-Prigent A, Muriel MP, Gu WJ, El Hachimi KH, Lücking CB, Brice A, Hirsch EC.

J Neural Transm (Vienna). 2004 Oct;111(10-11):1209-18. Epub 2004 Apr 13.

PMID:
15480834
20.

Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation.

Bruni AC, Takahashi-Fujigasaki J, Maltecca F, Foncin JF, Servadio A, Casari G, D'Adamo P, Maletta R, Curcio SA, De Michele G, Filla A, El Hachimi KH, Duyckaerts C.

Arch Neurol. 2004 Aug;61(8):1314-20.

PMID:
15313853
21.

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.

Acta Neuropathol. 2004 Jul;108(1):81-7. Epub 2004 Apr 27.

PMID:
15114487
22.

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.

Neurobiol Dis. 2003 Aug;13(3):230-7.

PMID:
12901837
23.

Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content.

Takahashi J, Fujigasaki H, Zander C, El Hachimi KH, Stevanin G, Dürr A, Lebre AS, Yvert G, Trottier Y, de Thé H, Hauw JJ, Duyckaerts C, Brice A.

Brain. 2002 Jul;125(Pt 7):1534-43.

PMID:
12077003
24.

Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3.

Zander C, Takahashi J, El Hachimi KH, Fujigasaki H, Albanese V, Lebre AS, Stevanin G, Duyckaerts C, Brice A.

Hum Mol Genet. 2001 Oct 15;10(22):2569-79.

PMID:
11709544
25.

FE65 in Alzheimer's disease: neuronal distribution and association with neurofibrillary tangles.

Delatour B, Mercken L, El Hachimi KH, Colle MA, Pradier L, Duyckaerts C.

Am J Pathol. 2001 May;158(5):1585-91.

26.

Comparison of clinical and pathological phenotypes in two ethnically and geographically unrelated pedigrees segregating an equivalent presenilin 1 mutation.

Jorge R, Mangone C, Castano E, Perandones C, Rogaeva E, St George-Hyslop P, El Hachimi KH, Foncin JF, Robinson RG, Bruni AC.

J Neuropsychiatry Clin Neurosci. 2000 Summer;12(3):359-63.

PMID:
10956569
27.

Modifications of oligodendroglial cells in spongiform encephalopathies.

El Hachimi KH, Chaunu MP, Brown P, Foncin JF.

Exp Neurol. 1998 Nov;154(1):23-30.

PMID:
9875264
28.

Putative neurosurgical transmission of Creutzfeldt-Jakob disease with analysis of donor and recipient: agent strains.

el Hachimi KH, Chaunu MP, Cervenakova L, Brown P, Foncin JF.

C R Acad Sci III. 1997 Apr;320(4):319-28.

PMID:
9183437
29.

Do microglial cells phagocyte the beta/A4-amyloid senile plaque core of Alzheimer disease?

el Hachimi KH, Foncin JF.

C R Acad Sci III. 1994 May;317(5):445-51.

PMID:
7994623
30.

Senile plaques, "aging" and Alzheimer's disease.

Foncin JF, el Hachimi KH.

Acta Neuropathol. 1994;88(6):600-1. No abstract available.

PMID:
7879611
31.

Alzheimer's disease: a model from the quantitative study of a large kindred.

Bruni AC, Montesi MP, Salmon D, Gei G, Perre J, el Hachimi KH, Foncin JF.

J Geriatr Psychiatry Neurol. 1992 Jul-Sep;5(3):126-31.

PMID:
1497790
32.

Relationship between non-fibrillary amyloid precursors and cell processes in the cortical neuropil of Alzheimer patients.

el Hachimi KH, Verga L, Giaccone G, Tagliavini F, Frangione B, Bugiani O, Foncin JF.

Neurosci Lett. 1991 Aug 5;129(1):119-22.

PMID:
1922961
33.

[Intradural extramedullary neuro-enteric cysts without associated malformation. 3 cases with magnetic resonance imaging].

Cornu P, el Hachimi KH, Oueslati S, Duplessis E, Rivierez M, Dormont D, Dubois B, Roullet E, Brunet P, Foncin JF, et al.

Rev Neurol (Paris). 1990;146(8-9):502-7. Review. French.

PMID:
2237095
34.

[Loss of dendritic spines in Alzheimer's disease].

el Hachimi KH, Foncin JF.

C R Acad Sci III. 1990;311(11):397-402. French.

PMID:
2125849

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