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Items: 50

1.

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R.

Hum Mutat. 2019 Sep 12. doi: 10.1002/humu.23915. [Epub ahead of print]

PMID:
31513310
2.

Diagnostic Challenge and Neuromuscular Junction Contribution to ALS Pathogenesis.

Campanari ML, Bourefis AR, Kabashi E.

Front Neurol. 2019 Feb 6;10:68. doi: 10.3389/fneur.2019.00068. eCollection 2019. Review.

3.

Transcriptomic Analysis of Zebrafish TDP-43 Transgenic Lines.

Lissouba A, Liao M, Kabashi E, Drapeau P.

Front Mol Neurosci. 2018 Dec 13;11:463. doi: 10.3389/fnmol.2018.00463. eCollection 2018.

4.

Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.

de Calbiac H, Dabacan A, Marsan E, Tostivint H, Devienne G, Ishida S, Leguern E, Baulac S, Muresan RC, Kabashi E, Ciura S.

Ann Clin Transl Neurol. 2018 Apr 6;5(5):510-523. doi: 10.1002/acn3.542. eCollection 2018 May.

5.

Neuroleptics as therapeutic compounds stabilizing neuromuscular transmission in amyotrophic lateral sclerosis.

Patten SA, Aggad D, Martinez J, Tremblay E, Petrillo J, Armstrong GA, La Fontaine A, Maios C, Liao M, Ciura S, Wen XY, Rafuse V, Ichida J, Zinman L, Julien JP, Kabashi E, Robitaille R, Korngut L, Parker JA, Drapeau P.

JCI Insight. 2017 Nov 16;2(22). pii: 97152. doi: 10.1172/jci.insight.97152. eCollection 2017 Nov 16.

6.

Neuromuscular Junction Impairment in Amyotrophic Lateral Sclerosis: Reassessing the Role of Acetylcholinesterase.

Campanari ML, García-Ayllón MS, Ciura S, Sáez-Valero J, Kabashi E.

Front Mol Neurosci. 2016 Dec 27;9:160. doi: 10.3389/fnmol.2016.00160. eCollection 2016. Review.

7.

ATXN2 trinucleotide repeat length correlates with risk of ALS.

Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, Van Damme P, Daoud H, Del Mar Amador M, Fogh I, Forzan M, Gaastra B, Gellera C, Gitler AD, Hardy J, Fratta P, La Bella V, Le Ber I, Van Langenhove T, Lattante S, Lee YC, Malaspina A, Meininger V, Millecamps S, Orrell R, Rademakers R, Robberecht W, Rouleau G, Ross OA, Salachas F, Sidle K, Smith BN, Soong BW, Sorarù G, Stevanin G, Kabashi E, Troakes C, van Broeckhoven C, Veldink JH, van den Berg LH, Shaw CE, Powell JF, Al-Chalabi A.

Neurobiol Aging. 2017 Mar;51:178.e1-178.e9. doi: 10.1016/j.neurobiolaging.2016.11.010. Epub 2016 Nov 24.

8.

The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway.

Ciura S, Sellier C, Campanari ML, Charlet-Berguerand N, Kabashi E.

Autophagy. 2016 Aug 2;12(8):1406-8. doi: 10.1080/15548627.2016.1189070. Epub 2016 May 31.

9.

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death.

Sellier C, Campanari ML, Julie Corbier C, Gaucherot A, Kolb-Cheynel I, Oulad-Abdelghani M, Ruffenach F, Page A, Ciura S, Kabashi E, Charlet-Berguerand N.

EMBO J. 2016 Jun 15;35(12):1276-97. doi: 10.15252/embj.201593350. Epub 2016 Apr 21.

10.

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A; French Parkinson's Disease Genetics Study (PDG); International Parkinson's Disease Genomics Consortium (IPDGC).

Am J Hum Genet. 2016 Mar 3;98(3):500-513. doi: 10.1016/j.ajhg.2016.01.014.

11.

Two novel COLVI long chains in zebrafish that are essential for muscle development.

Ramanoudjame L, Rocancourt C, Lainé J, Klein A, Joassard L, Gartioux C, Fleury M, Lyphout L, Kabashi E, Ciura S, Cousin X, Allamand V.

Hum Mol Genet. 2015 Dec 1;24(23):6624-39. doi: 10.1093/hmg/ddv368. Epub 2015 Sep 11.

PMID:
26362255
12.

Deciphering spreading mechanisms in amyotrophic lateral sclerosis: clinical evidence and potential molecular processes.

Pradat PF, Kabashi E, Desnuelle C.

Curr Opin Neurol. 2015 Oct;28(5):455-61. doi: 10.1097/WCO.0000000000000239. Review.

PMID:
26356410
13.

Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy.

Rau F, Lainé J, Ramanoudjame L, Ferry A, Arandel L, Delalande O, Jollet A, Dingli F, Lee KY, Peccate C, Lorain S, Kabashi E, Athanasopoulos T, Koo T, Loew D, Swanson MS, Le Rumeur E, Dickson G, Allamand V, Marie J, Furling D.

Nat Commun. 2015 May 28;6:7205. doi: 10.1038/ncomms8205.

14.

Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).

Lattante S, Ciura S, Rouleau GA, Kabashi E.

Trends Genet. 2015 May;31(5):263-73. doi: 10.1016/j.tig.2015.03.005. Epub 2015 Apr 10. Review.

PMID:
25869998
15.

Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD.

Lattante S, de Calbiac H, Le Ber I, Brice A, Ciura S, Kabashi E.

Hum Mol Genet. 2015 Mar 15;24(6):1682-90. doi: 10.1093/hmg/ddu580. Epub 2014 Nov 19.

PMID:
25410659
16.

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.

Lattante S, Millecamps S, Stevanin G, Rivaud-Péchoux S, Moigneu C, Camuzat A, Da Barroca S, Mundwiller E, Couarch P, Salachas F, Hannequin D, Meininger V, Pasquier F, Seilhean D, Couratier P, Danel-Brunaud V, Bonnet AM, Tranchant C, LeGuern E, Brice A, Le Ber I, Kabashi E; French Research Network on FTD and FTD-ALS.

Neurology. 2014 Sep 9;83(11):990-5. doi: 10.1212/WNL.0000000000000778. Epub 2014 Aug 6.

17.

Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions.

Lattante S, Le Ber I, Galimberti D, Serpente M, Rivaud-Péchoux S, Camuzat A, Clot F, Fenoglio C; French research network on FTD and FTD-ALS, Scarpini E, Brice A, Kabashi E.

Neurobiol Aging. 2014 Nov;35(11):2658.e1-2658.e5. doi: 10.1016/j.neurobiolaging.2014.06.023. Epub 2014 Jun 28.

PMID:
25085782
18.

Fishing for causes and cures of motor neuron disorders.

Patten SA, Armstrong GA, Lissouba A, Kabashi E, Parker JA, Drapeau P.

Dis Model Mech. 2014 Jul;7(7):799-809. doi: 10.1242/dmm.015719. Review.

19.

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

Le Ber I, De Septenville A, Guerreiro R, Bras J, Camuzat A, Caroppo P, Lattante S, Couarch P, Kabashi E, Bouya-Ahmed K, Dubois B, Brice A.

Neurobiol Aging. 2014 Oct;35(10):2419.e23-2419.e25. doi: 10.1016/j.neurobiolaging.2014.04.010. Epub 2014 Apr 18.

20.

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.

Le Ber I, Van Bortel I, Nicolas G, Bouya-Ahmed K, Camuzat A, Wallon D, De Septenville A, Latouche M, Lattante S, Kabashi E, Jornea L, Hannequin D, Brice A; French research Network on FTLD/FTLD-ALS.

Neurobiol Aging. 2014 Apr;35(4):934.e5-6. doi: 10.1016/j.neurobiolaging.2013.09.016. Epub 2013 Oct 9.

PMID:
24119545
21.

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

Le Ber I, Camuzat A, Guerreiro R, Bouya-Ahmed K, Bras J, Nicolas G, Gabelle A, Didic M, De Septenville A, Millecamps S, Lenglet T, Latouche M, Kabashi E, Campion D, Hannequin D, Hardy J, Brice A; French Clinical and Genetic Research Network on FTD/FTD-ALS.

JAMA Neurol. 2013 Nov;70(11):1403-10. doi: 10.1001/jamaneurol.2013.3849.

22.

TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia.

Lattante S, Le Ber I, Camuzat A, Dayan S, Godard C, Van Bortel I, De Septenville A, Ciura S, Brice A, Kabashi E; French Research Network on FTD and FTD-ALS.

Neurobiol Aging. 2013 Oct;34(10):2443.e1-2. doi: 10.1016/j.neurobiolaging.2013.04.030. Epub 2013 Jun 4.

PMID:
23759145
23.

Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.

Ciura S, Lattante S, Le Ber I, Latouche M, Tostivint H, Brice A, Kabashi E.

Ann Neurol. 2013 Aug;74(2):180-7. doi: 10.1002/ana.23946.

PMID:
23720273
24.

ALS Untangled No. 20: the Deanna protocol.

ALSUntangled Group, Fournier C, Bedlack B, Hardiman O, Heiman-Patterson T, Gutmann L, Bromberg M, Ostrow L, Carter G, Kabashi E, Bertorini T, Mozaffar T, Andersen P, Dietz J, Gamez J, Dimachkie M, Wang Y, Wicks P, Heywood J, Novella S, Rowland LP, Pioro E, Kinsley L, Mitchell K, Glass J, Sathornsumetee S, Kwiecinski H, Baker J, Atassi N, Forshew D, Ravits J, Conwit R, Jackson C, Sherman A, Dalton K, Tindall K, Gonzalez G, Robertson J, Phillips L, Benatar M, Sorenson E, Shoesmith C, Nash S, Maragakis N, Moore D, Caress J, Boylan K, Armon C, Grosso M, Gerecke B, Wymer J, Oskarsson B, Bowser R, Drory V, Shefner J, Lechtzin N, Leitner M, Miller R, Mitsumoto H, Levine T, Russell J, Sharma K, Saperstein D, McClusky L, MacGowan D, Licht J, Verma A, Strong M, Lomen-Hoerth C, Tandan R, Rivner M, Kolb S, Polak M, Rudnicki S, Kittrell P, Quereshi M, Sachs G, Pattee G, Weiss M, Kissel J, Goldstein J, Rothstein J, Pastula D, Gleb L, Ogino M, Rosenfeld J, Carmi E, Oster C, Barkhaus P, Valor E.

Amyotroph Lateral Scler Frontotemporal Degener. 2013 May;14(4):319-23. doi: 10.3109/21678421.2013.788405. Epub 2013 May 2. Review. No abstract available.

PMID:
23638638
25.

Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients.

Lattante S, Le Ber I, Camuzat A, Pariente J, Brice A, Kabashi E; French Research Network on FTD and FTD-ALS.

Neurobiol Aging. 2013 Aug;34(8):2078.e5-6. doi: 10.1016/j.neurobiolaging.2013.03.002. Epub 2013 Apr 10.

PMID:
23582661
26.

Pharmacological reduction of ER stress protects against TDP-43 neuronal toxicity in vivo.

Vaccaro A, Patten SA, Aggad D, Julien C, Maios C, Kabashi E, Drapeau P, Parker JA.

Neurobiol Dis. 2013 Jul;55:64-75. doi: 10.1016/j.nbd.2013.03.015. Epub 2013 Apr 5.

PMID:
23567652
27.

TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.

Lattante S, Rouleau GA, Kabashi E.

Hum Mutat. 2013 Jun;34(6):812-26. doi: 10.1002/humu.22319. Epub 2013 Apr 29. Review.

PMID:
23559573
28.

Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis.

Kabashi E, El Oussini H, Bercier V, Gros-Louis F, Valdmanis PN, McDearmid J, Mejier IA, Dion PA, Dupre N, Hollinger D, Sinniger J, Dirrig-Grosch S, Camu W, Meininger V, Loeffler JP, René F, Drapeau P, Rouleau GA, Dupuis L.

Hum Mol Genet. 2013 Jun 15;22(12):2350-60. doi: 10.1093/hmg/ddt080. Epub 2013 Feb 26.

PMID:
23446633
29.

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

Martin E, Schüle R, Smets K, Rastetter A, Boukhris A, Loureiro JL, Gonzalez MA, Mundwiller E, Deconinck T, Wessner M, Jornea L, Oteyza AC, Durr A, Martin JJ, Schöls L, Mhiri C, Lamari F, Züchner S, De Jonghe P, Kabashi E, Brice A, Stevanin G.

Am J Hum Genet. 2013 Feb 7;92(2):238-44. doi: 10.1016/j.ajhg.2012.11.021. Epub 2013 Jan 17.

30.

Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France.

Lattante S, Le Ber I, Camuzat A, Brice A, Kabashi E.

Neurobiol Aging. 2013 Jun;34(6):1709.e1-2. doi: 10.1016/j.neurobiolaging.2012.10.026. Epub 2012 Nov 24.

PMID:
23182804
31.

Methylene blue protects against TDP-43 and FUS neuronal toxicity in C. elegans and D. rerio.

Vaccaro A, Patten SA, Ciura S, Maios C, Therrien M, Drapeau P, Kabashi E, Parker JA.

PLoS One. 2012;7(7):e42117. doi: 10.1371/journal.pone.0042117. Epub 2012 Jul 27.

32.

Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish.

Martin E, Yanicostas C, Rastetter A, Alavi Naini SM, Maouedj A, Kabashi E, Rivaud-Péchoux S, Brice A, Stevanin G, Soussi-Yanicostas N.

Neurobiol Dis. 2012 Dec;48(3):299-308. doi: 10.1016/j.nbd.2012.07.003. Epub 2012 Jul 16.

PMID:
22801083
33.

Impaired proteasome function in sporadic amyotrophic lateral sclerosis.

Kabashi E, Agar JN, Strong MJ, Durham HD.

Amyotroph Lateral Scler. 2012 Jun;13(4):367-71. doi: 10.3109/17482968.2012.686511.

PMID:
22632443
34.

FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis.

Kabashi E, Bercier V, Lissouba A, Liao M, Brustein E, Rouleau GA, Drapeau P.

PLoS Genet. 2011 Aug;7(8):e1002214. doi: 10.1371/journal.pgen.1002214. Epub 2011 Aug 4.

35.

Zebrafish models for the functional genomics of neurogenetic disorders.

Kabashi E, Brustein E, Champagne N, Drapeau P.

Biochim Biophys Acta. 2011 Mar;1812(3):335-45. doi: 10.1016/j.bbadis.2010.09.011. Epub 2010 Sep 29. Review.

36.

In the swim of things: recent insights to neurogenetic disorders from zebrafish.

Kabashi E, Champagne N, Brustein E, Drapeau P.

Trends Genet. 2010 Aug;26(8):373-81. doi: 10.1016/j.tig.2010.05.004. Epub 2010 Jun 25. Review.

PMID:
20580116
37.

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo.

Kabashi E, Lin L, Tradewell ML, Dion PA, Bercier V, Bourgouin P, Rochefort D, Bel Hadj S, Durham HD, Vande Velde C, Rouleau GA, Drapeau P.

Hum Mol Genet. 2010 Feb 15;19(4):671-83. doi: 10.1093/hmg/ddp534. Epub 2009 Dec 3. Erratum in: Hum Mol Genet. 2010 Aug 1;19(15):3102.

PMID:
19959528
38.

Mutations in FUS cause FALS and SALS in French and French Canadian populations.

Belzil VV, Valdmanis PN, Dion PA, Daoud H, Kabashi E, Noreau A, Gauthier J; S2D team, Hince P, Desjarlais A, Bouchard JP, Lacomblez L, Salachas F, Pradat PF, Camu W, Meininger V, Dupré N, Rouleau GA.

Neurology. 2009 Oct 13;73(15):1176-9. doi: 10.1212/WNL.0b013e3181bbfeef. Epub 2009 Sep 9.

39.

No TARDBP mutations in a French Canadian population of patients with Parkinson disease.

Kabashi E, Daoud H, Rivière JB, Valdmanis PN, Bourgouin P, Provencher P, Pourcher E, Dion P, Dupré N, Rouleau GA.

Arch Neurol. 2009 Feb;66(2):281-2. doi: 10.1001/archneurol.2008.568. No abstract available. Erratum in: Arch Neurol. 2009 Apr;66(4):432. Valdamanis, Paul N [corrected to Valdmanis, Paul N].

PMID:
19204172
40.

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.

Daoud H, Valdmanis PN, Kabashi E, Dion P, Dupré N, Camu W, Meininger V, Rouleau GA.

J Med Genet. 2009 Feb;46(2):112-4. doi: 10.1136/jmg.2008.062463. Epub 2008 Oct 17.

PMID:
18931000
41.

Association of paraoxonase gene cluster polymorphisms with ALS in France, Quebec, and Sweden.

Valdmanis PN, Kabashi E, Dyck A, Hince P, Lee J, Dion P, D'Amour M, Souchon F, Bouchard JP, Salachas F, Meininger V, Andersen PM, Camu W, Dupré N, Rouleau GA.

Neurology. 2008 Aug 12;71(7):514-20. doi: 10.1212/01.wnl.0000324997.21272.0c.

PMID:
18695162
42.

Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish.

Gros-Louis F, Kriz J, Kabashi E, McDearmid J, Millecamps S, Urushitani M, Lin L, Dion P, Zhu Q, Drapeau P, Julien JP, Rouleau GA.

Hum Mol Genet. 2008 Sep 1;17(17):2691-702. doi: 10.1093/hmg/ddn171. Epub 2008 Jun 16.

PMID:
18558633
43.

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA.

Nat Genet. 2008 May;40(5):572-4. doi: 10.1038/ng.132. Epub 2008 Mar 30.

PMID:
18372902
44.

Proteasomes remain intact, but show early focal alteration in their composition in a mouse model of amyotrophic lateral sclerosis.

Kabashi E, Agar JN, Hong Y, Taylor DM, Minotti S, Figlewicz DA, Durham HD.

J Neurochem. 2008 Jun 1;105(6):2353-66. doi: 10.1111/j.1471-4159.2008.05317.x.

45.

Oxidized/misfolded superoxide dismutase-1: the cause of all amyotrophic lateral sclerosis?

Kabashi E, Valdmanis PN, Dion P, Rouleau GA.

Ann Neurol. 2007 Dec;62(6):553-9. Review.

PMID:
18074357
46.

ALS predisposition modifiers: knock NOX, who's there? SOD1 mice still are.

Valdmanis PN, Kabashi E, Dion PA, Rouleau GA.

Eur J Hum Genet. 2008 Feb;16(2):140-2. Epub 2007 Nov 28. No abstract available.

47.

Tryptophan 32 potentiates aggregation and cytotoxicity of a copper/zinc superoxide dismutase mutant associated with familial amyotrophic lateral sclerosis.

Taylor DM, Gibbs BF, Kabashi E, Minotti S, Durham HD, Agar JN.

J Biol Chem. 2007 Jun 1;282(22):16329-35. Epub 2007 Mar 27.

48.

Failure of protein quality control in amyotrophic lateral sclerosis.

Kabashi E, Durham HD.

Biochim Biophys Acta. 2006 Nov-Dec;1762(11-12):1038-50. Epub 2006 Jun 18. Review.

49.
50.

Focal dysfunction of the proteasome: a pathogenic factor in a mouse model of amyotrophic lateral sclerosis.

Kabashi E, Agar JN, Taylor DM, Minotti S, Durham HD.

J Neurochem. 2004 Jun;89(6):1325-35.

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