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Items: 14

1.

Novel VCP mutations expand the mutational spectrum of frontotemporal dementia.

Saracino D, Clot F, Camuzat A, Anquetil V, Hannequin D, Guyant-Maréchal L, Didic M, Guillot-Noël L, Rinaldi D, Latouche M, Forlani S, Ghassab Y, Coppola C, Di Iorio G, David I; French research network on FTD/FTD-ALS, Le Guern E, Brice A, Le Ber I.

Neurobiol Aging. 2018 Dec;72:187.e11-187.e14. doi: 10.1016/j.neurobiolaging.2018.06.037. Epub 2018 Jun 30.

PMID:
30005904
2.

Adaptive human immunity drives remyelination in a mouse model of demyelination.

El Behi M, Sanson C, Bachelin C, Guillot-Noël L, Fransson J, Stankoff B, Maillart E, Sarrazin N, Guillemot V, Abdi H, Cournu-Rebeix I, Fontaine B, Zujovic V.

Brain. 2017 Apr 1;140(4):967-980. doi: 10.1093/brain/awx008.

3.

Defining the spectrum of frontotemporal dementias associated with TARDBP mutations.

Caroppo P, Camuzat A, Guillot-Noel L, Thomas-Antérion C, Couratier P, Wong TH, Teichmann M, Golfier V, Auriacombe S, Belliard S, Laurent B, Lattante S, Millecamps S, Clot F, Dubois B, van Swieten JC, Brice A, Le Ber I.

Neurol Genet. 2016 May 26;2(3):e80. doi: 10.1212/NXG.0000000000000080. eCollection 2016 Jun.

4.

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.

Sadovnick AD, Traboulsee AL, Bernales CQ, Ross JP, Forwell AL, Yee IM, Guillot-Noel L, Fontaine B, Cournu-Rebeix I, Alcina A, Fedetz M, Izquierdo G, Matesanz F, Hilven K, Dubois B, Goris A, Astobiza I, Alloza I, Antigüedad A, Vandenbroeck K, Akkad DA, Aktas O, Blaschke P, Buttmann M, Chan A, Epplen JT, Gerdes LA, Kroner A, Kubisch C, Kümpfel T, Lohse P, Rieckmann P, Zettl UK, Zipp F, Bertram L, Lill CM, Fernandez O, Urbaneja P, Leyva L, Alvarez-Cermeño JC, Arroyo R, Garagorri AM, García-Martínez A, Villar LM, Urcelay E, Malhotra S, Montalban X, Comabella M, Berger T, Fazekas F, Reindl M, Schmied MC, Zimprich A, Vilariño-Güell C.

G3 (Bethesda). 2016 Jul 7;6(7):2073-9. doi: 10.1534/g3.116.030841.

5.

Investigation of sex-specific effects of apolipoprotein E on severity of EAE and MS.

Schrewe L, Lill CM, Liu T, Salmen A, Gerdes LA, Guillot-Noel L, Akkad DA, Blaschke P, Graetz C, Hoffjan S, Kroner A, Demir S, Böhme A, Rieckmann P, ElAli A, Hagemann N, Hermann DM, Cournu-Rebeix I, Zipp F, Kümpfel T, Buttmann M, Zettl UK, Fontaine B, Bertram L, Gold R, Chan A.

J Neuroinflammation. 2015 Dec 16;12:234. doi: 10.1186/s12974-015-0429-y.

6.

Genome-wide significant association with seven novel multiple sclerosis risk loci.

Lill CM, Luessi F, Alcina A, Sokolova EA, Ugidos N, de la Hera B, Guillot-Noël L, Malhotra S, Reinthaler E, Schjeide BM, Mescheriakova JY, Mashychev A, Wohlers I, Akkad DA, Aktas O, Alloza I, Antigüedad A, Arroyo R, Astobiza I, Blaschke P, Boyko AN, Buttmann M, Chan A, Dörner T, Epplen JT, Favorova OO, Fedetz M, Fernández O, García-Martínez A, Gerdes LA, Graetz C, Hartung HP, Hoffjan S, Izquierdo G, Korobko DS, Kroner A, Kubisch C, Kümpfel T, Leyva L, Lohse P, Malkova NA, Montalban X, Popova EV, Rieckmann P, Rozhdestvenskii AS, Schmied C, Smagina IV, Tsareva EY, Winkelmann A, Zettl UK, Binder H, Cournu-Rebeix I, Hintzen R, Zimprich A, Comabella M, Fontaine B, Urcelay E, Vandenbroeck K, Filipenko M, Matesanz F, Zipp F, Bertram L.

J Med Genet. 2015 Dec;52(12):848-55. doi: 10.1136/jmedgenet-2015-103442. Epub 2015 Oct 16.

PMID:
26475045
7.

A gene pathway analysis highlights the role of cellular adhesion molecules in multiple sclerosis susceptibility.

Damotte V, Guillot-Noel L, Patsopoulos NA, Madireddy L, El Behi M; International Multiple Sclerosis Genetics Consortium; Wellcome Trust Case Control Consortium 2, De Jager PL, Baranzini SE, Cournu-Rebeix I, Fontaine B.

Genes Immun. 2014 Mar;15(2):126-32. doi: 10.1038/gene.2013.70. Epub 2014 Jan 16.

8.

Genetic burden in multiple sclerosis families.

Isobe N, Damotte V, Re VL, Ban M, Pappas D, Guillot-Noel L, Rebeix I, Compston A, Mack T, Cozen W, Fontaine B, Hauser SL, Oksenberg JR, Sawcer S, Gourraud PA.

Genes Immun. 2013 Oct;14(7):434-440. doi: 10.1038/gene.2013.37. Epub 2013 Aug 1.

9.

MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis.

International Multiple Sclerosis Genetics Consortium, Lill CM, Schjeide BM, Graetz C, Ban M, Alcina A, Ortiz MA, Pérez J, Damotte V, Booth D, Lopez de Lapuente A, Broer L, Schilling M, Akkad DA, Aktas O, Alloza I, Antigüedad A, Arroyo R, Blaschke P, Buttmann M, Chan A, Compston A, Cournu-Rebeix I, Dörner T, Epplen JT, Fernández Ó, Gerdes LA, Guillot-Noël L, Hartung HP, Hoffjan S, Izquierdo G, Kemppinen A, Kroner A, Kubisch C, Kümpfel T, Li SC, Lindenberger U, Lohse P, Lubetzki C, Luessi F, Malhotra S, Mescheriakova J, Montalban X, Papeix C, Paredes LF, Rieckmann P, Steinhagen-Thiessen E, Winkelmann A, Zettl UK, Hintzen R, Vandenbroeck K, Stewart G, Fontaine B, Comabella M, Urcelay E, Matesanz F, Sawcer S, Bertram L, Zipp F.

Brain. 2013 Jun;136(Pt 6):1778-82. doi: 10.1093/brain/awt101.

10.

C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing.

Le Ber I, Camuzat A, Guillot-Noel L, Hannequin D, Lacomblez L, Golfier V, Puel M, Martinaud O, Deramecourt V, Rivaud-Pechoux S, Millecamps S, Vercelletto M, Couratier P, Sellal F, Pasquier F, Salachas F, Thomas-Antérion C, Didic M, Pariente J, Seilhean D, Ruberg M, Wargon I, Blanc F, Camu W, Michel BF, Berger E, Sauvée M, Thauvin-Robinet C, Mondon K, Tournier-Lasserve E, Goizet C, Fleury M, Viennet G, Verpillat P, Meininger V, Duyckaerts C, Dubois B, Brice A.

J Alzheimers Dis. 2013;34(2):485-99. doi: 10.3233/JAD-121456.

PMID:
23254636
11.

FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis.

Broustal O, Camuzat A, Guillot-Noël L, Guy N, Millecamps S, Deffond D, Lacomblez L, Golfier V, Hannequin D, Salachas F, Camu W, Didic M, Dubois B, Meininger V, Le Ber I, Brice A; French clinical and genetic research network on FTD/FTD-MND.

J Alzheimers Dis. 2010;22(3):765-9.

PMID:
21158017
12.

CHMP2B mutations are rare in French families with frontotemporal lobar degeneration.

Ghanim M, Guillot-Noel L, Pasquier F, Jornea L, Deramecourt V, Dubois B, Le Ber I, Brice A; French Research Network on FTD and FTD/MND.

J Neurol. 2010 Dec;257(12):2032-6. doi: 10.1007/s00415-010-5655-8. Epub 2010 Jul 14.

PMID:
20625756
13.

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, Guillot-Noël L, Russaouen O, Bruneteau G, Pradat PF, Le Forestier N, Vandenberghe N, Danel-Brunaud V, Guy N, Thauvin-Robinet C, Lacomblez L, Couratier P, Hannequin D, Seilhean D, Le Ber I, Corcia P, Camu W, Brice A, Rouleau G, LeGuern E, Meininger V.

J Med Genet. 2010 Aug;47(8):554-60. doi: 10.1136/jmg.2010.077180. Epub 2010 Jun 24.

14.

Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.

Stum M, Davoine CS, Vicart S, Guillot-Noël L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-H, Quan PC, Fontaine B, Nicole S.

Hum Mutat. 2006 Nov;27(11):1082-91.

PMID:
16927315

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