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Page 1
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
Barbier M, Davoine CS, Petit E, Porché M, Guillot-Noel L, Sayah S, Fauret AL, Neau JP, Guyant-Maréchal L, Deffond D, Tranchant C, Goizet C, Coarelli G, Castrioto A, Klebe S, Ewenczyk C, Heinzmann A, Charles P, Tchikviladzé M, Van Broeckhoven C, Brice A, Durr A. Barbier M, et al. Among authors: guillot noel l. Genet Med. 2023 Feb;25(2):100327. doi: 10.1016/j.gim.2022.10.009. Epub 2022 Nov 23. Genet Med. 2023. PMID: 36422518 Free article.
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. International Multiple Sclerosis Genetics Consortium, et al. Brain. 2013 Jun;136(Pt 6):1778-82. doi: 10.1093/brain/awt101. Brain. 2013. PMID: 23739915 Free PMC article.
Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk.
International Multiple Sclerosis Genetics Consortium. Electronic address: chris.cotsapas@yale.edu; International Multiple Sclerosis Genetics Consortium. International Multiple Sclerosis Genetics Consortium. Electronic address: chris.cotsapas@yale.edu, et al. Cell. 2018 Nov 29;175(6):1679-1687.e7. doi: 10.1016/j.cell.2018.09.049. Epub 2018 Oct 18. Cell. 2018. PMID: 30343897 Free PMC article.
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. Millecamps S, et al. J Med Genet. 2010 Aug;47(8):554-60. doi: 10.1136/jmg.2010.077180. Epub 2010 Jun 24. J Med Genet. 2010. PMID: 20577002 Free article.
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. Broustal O, et al. J Alzheimers Dis. 2010;22(3):765-9. J Alzheimers Dis. 2010. PMID: 21158017
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. Le Ber I, et al. J Alzheimers Dis. 2013;34(2):485-99. doi: 10.3233/JAD-121456. J Alzheimers Dis. 2013. PMID: 23254636
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. Saracino D, et al. Neurobiol Aging. 2018 Dec;72:187.e11-187.e14. doi: 10.1016/j.neurobiolaging.2018.06.037. Epub 2018 Jun 30. Neurobiol Aging. 2018. PMID: 30005904 Free article.
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.
Rebelo AP, Eidhof I, Cintra VP, Guillot-Noel L, Pereira CV, Timmann D, Traschütz A, Schöls L, Coarelli G, Durr A, Anheim M, Tranchant C, van de Warrenburg B, Guissart C, Koenig M, Howell J, Moraes CT, Schenck A, Stevanin G, Züchner S, Synofzik M; PREPARE network. Rebelo AP, et al. Brain. 2021 Jun 22;144(5):1467-1481. doi: 10.1093/brain/awab071. Brain. 2021. PMID: 33889951
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Eur J Hum Genet. 2021. PMID: 33972714 Free PMC article. No abstract available.
36 results