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Results: 1 to 20 of 623

1.

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, Wimbish JR, Waite LL, Jones AL, Carulli JP, Day-Williams AG, Staropoli JF, Xin WW, Chesi A, Raphael AR, McKenna-Yasek D, Cady J, Vianney de Jong JM, Kenna KP, Smith BN, Topp S, Miller J, Gkazi A; FALS Sequencing Consortium, Al-Chalabi A, van den Berg LH, Veldink J, Silani V, Ticozzi N, Shaw CE, Baloh RH, Appel S, Simpson E, Lagier-Tourenne C, Pulst SM, Gibson S, Trojanowski JQ, Elman L, McCluskey L, Grossman M, Shneider NA, Chung WK, Ravits JM, Glass JD, Sims KB, Van Deerlin VM, Maniatis T, Hayes SD, Ordureau A, Swarup S, Landers J, Baas F, Allen AS, Bedlack RS, Harper JW, Gitler AD, Rouleau GA, Brown R, Harms MB, Cooper GM, Harris T, Myers RM, Goldstein DB.

Science. 2015 Feb 19. pii: aaa3650. [Epub ahead of print]

PMID:
25700176
[PubMed - as supplied by publisher]
2.

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.

Capo-Chichi JM, Boissel S, Brustein E, Pickles S, Fallet-Bianco C, Nassif C, Patry L, Dobrzeniecka S, Liao M, Labuda D, Samuels ME, Hamdan FF, Velde CV, Rouleau GA, Drapeau P, Michaud JL.

J Med Genet. 2015 Feb 3. pii: jmedgenet-2014-102952. doi: 10.1136/jmedgenet-2014-102952. [Epub ahead of print]

PMID:
25650066
[PubMed - as supplied by publisher]
3.

Novel integrative genomic tool for interrogating lithium response in bipolar disorder.

Hunsberger JG, Chibane FL, Elkahloun AG, Henderson R, Singh R, Lawson J, Cruceanu C, Nagarajan V, Turecki G, Squassina A, Medeiros CD, Del Zompo M, Rouleau GA, Alda M, Chuang DM.

Transl Psychiatry. 2015 Feb 3;5:e504. doi: 10.1038/tp.2014.139.

PMID:
25646593
[PubMed - in process]
4.

Functional variants of POC5 identified in patients with idiopathic scoliosis.

Patten SA, Margaritte-Jeannin P, Bernard JC, Alix E, Labalme A, Besson A, Girard SL, Fendri K, Fraisse N, Biot B, Poizat C, Campan-Fournier A, Abelin-Genevois K, Cunin V, Zaouter C, Liao M, Lamy R, Lesca G, Menassa R, Marcaillou C, Letexier M, Sanlaville D, Berard J, Rouleau GA, Clerget-Darpoux F, Drapeau P, Moldovan F, Edery P.

J Clin Invest. 2015 Feb 2. pii: 77262. doi: 10.1172/JCI77262. [Epub ahead of print]

PMID:
25642776
[PubMed - as supplied by publisher]
5.

Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients.

Paré B, Touzel-Deschênes L, Lamontagne R, Lamarre MS, Scott FD, Khuong HT, Dion PA, Bouchard JP, Gould P, Rouleau GA, Dupré N, Berthod F, Gros-Louis F.

Acta Neuropathol Commun. 2015 Jan 31;3(1):5. [Epub ahead of print]

PMID:
25637145
[PubMed - as supplied by publisher]
Free Article
6.

Affected Twins in the Familial Intracranial Aneurysm Study.

Mackey J, Brown RD, Sauerbeck L, Hornung R, Moomaw CJ, Koller DL, Foroud T, Deka R, Woo D, Kleindorfer D, Flaherty ML, Meissner I, Anderson C, Rouleau G, Connolly ES, Huston J, Broderick JP.

Cerebrovasc Dis. 2015 Jan 8;39(2):82-86. [Epub ahead of print]

PMID:
25571891
[PubMed - as supplied by publisher]
7.

Virtual intervention to support self-management of antiretroviral therapy among people living with HIV.

Côté J, Godin G, Ramirez-Garcia P, Rouleau G, Bourbonnais A, Guéhéneuc YG, Tremblay C, Otis J.

J Med Internet Res. 2015 Jan 6;17(1):e6. doi: 10.2196/jmir.3264.

PMID:
25563775
[PubMed - in process]
Free PMC Article
8.

No evidence for GADL1 variation as a bipolar disorder susceptibility factor in a Caucasian lithium-responsive cohort.

Cruceanu C, Alda M, Dion PA, Turecki G, Rouleau GA.

Am J Psychiatry. 2015 Jan;172(1):94-5. doi: 10.1176/appi.ajp.2014.14070855. No abstract available.

PMID:
25553497
[PubMed - in process]
9.

Family-based association study of common variants, rare mutation study and epistatic interaction detection in HDAC genes in schizophrenia.

Kebir O, Chaumette B, Fatjó-Vilas M, Ambalavanan A, Ramoz N, Xiong L, Mouaffak F, Millet B, Jaafari N, DeLisi LE, Levinson D, Joober R, Fañanás L, Rouleau G, Dubertret C, Krebs MO.

Schizophr Res. 2014 Dec;160(1-3):97-103. doi: 10.1016/j.schres.2014.09.029. Epub 2014 Oct 18.

PMID:
25445625
[PubMed - in process]
10.

A novel nonsense mutation in SCN9A in a Moroccan child with congenital insensitivity to pain.

Mansouri M, Chafai Elalaoui S, Ouled Amar Bencheikh B, El Alloussi M, Dion PA, Sefiani A, Rouleau GA.

Pediatr Neurol. 2014 Nov;51(5):741-4. doi: 10.1016/j.pediatrneurol.2014.06.009. Epub 2014 Jul 12.

PMID:
25439579
[PubMed - in process]
11.

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.

Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF.

Eur J Hum Genet. 2014 Nov 19. doi: 10.1038/ejhg.2014.256. [Epub ahead of print]

PMID:
25407000
[PubMed - as supplied by publisher]
12.

C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder.

Daoud H, Postuma RB, Bourassa CV, Rochefort D, Gauthier MT, Montplaisir J, Gagnon JF, Arnulf I, Dauvilliers Y, Charley CM, Inoue Y, Sasai T, Högl B, Desautels A, Frauscher B, Cochen De Cock V, Rouleau GA, Dion PA.

Can J Neurol Sci. 2014 Nov;41(6):759-62. doi: 10.1017/cjn.2014.39. Epub 2014 Nov 4.

PMID:
25377888
[PubMed - in process]
13.

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Muñoz-Blanco JL, Simpson M; SLAGEN Consortium, van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE.

Neuron. 2014 Oct 22;84(2):324-31. doi: 10.1016/j.neuron.2014.09.027. Epub 2014 Oct 22.

PMID:
25374358
[PubMed - indexed for MEDLINE]
14.

De novo mutations in moderate or severe intellectual disability.

Hamdan FF, Srour M, Capo-Chichi JM, Daoud H, Nassif C, Patry L, Massicotte C, Ambalavanan A, Spiegelman D, Diallo O, Henrion E, Dionne-Laporte A, Fougerat A, Pshezhetsky AV, Venkateswaran S, Rouleau GA, Michaud JL.

PLoS Genet. 2014 Oct 30;10(10):e1004772. doi: 10.1371/journal.pgen.1004772. eCollection 2014 Oct.

PMID:
25356899
[PubMed - in process]
Free PMC Article
15.

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

Kaneb HM, Folkmann AW, Belzil VV, Jao LE, Leblond CS, Girard SL, Daoud H, Noreau A, Rochefort D, Hince P, Szuto A, Levert A, Vidal S, André-Guimont C, Camu W, Bouchard JP, Dupré N, Rouleau GA, Wente SR, Dion PA.

Hum Mol Genet. 2015 Mar 1;24(5):1363-73. doi: 10.1093/hmg/ddu545. Epub 2014 Oct 24.

PMID:
25343993
[PubMed - in process]
Free Article
16.

De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.

Lee JR, Srour M, Kim D, Hamdan FF, Lim SH, Brunel-Guitton C, Décarie JC, Rossignol E, Mitchell GA, Schreiber A, Moran R, Van Haren K, Richardson R, Nicolai J, Oberndorff KM, Wagner JD, Boycott KM, Rahikkala E, Junna N, Tyynismaa H, Cuppen I, Verbeek NE, Stumpel CT, Willemsen MA, de Munnik SA, Rouleau GA, Kim E, Kamsteeg EJ, Kleefstra T, Michaud JL.

Hum Mutat. 2015 Jan;36(1):69-78. doi: 10.1002/humu.22709. Epub 2014 Nov 27.

PMID:
25265257
[PubMed - in process]
17.

Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7.

Foroud T, Lai D, Koller D, Van't Hof F, Kurki MI, Anderson CS, Brown RD Jr, Connolly ES, Eriksson JG, Flaherty M, Fornage M, von Und Zu Fraunberg M, Gaál EI, Laakso A, Hernesniemi J, Huston J, Jääskeläinen JE, Kiemeney LA, Kivisaari R, Kleindorfer D, Ko N, Lehto H, Mackey J, Meissner I, Moomaw CJ, Mosley TH, Moskala M, Niemelä M, Palotie A, Pera J, Rinkel G, Ripke S, Rouleau G, Ruigrok Y, Sauerbeck L, Słowik A, Vermeulen SH, Woo D, Worrall BB, Broderick J; Familial Intracranial Aneurysm Study Investigators.

Stroke. 2014 Nov;45(11):3194-9. doi: 10.1161/STROKEAHA.114.006096. Epub 2014 Sep 25.

PMID:
25256182
[PubMed - indexed for MEDLINE]
18.

Increased Prevalence of Non-motor Symptoms in Essential Tremor.

Lacerte A, Chouinard S, Jodoin N, Bernard G, Rouleau GA, Panisset M.

Tremor Other Hyperkinet Mov (N Y). 2014 Sep 2;4:162. doi: 10.7916/D82V2D91. eCollection 2014.

PMID:
25247108
[PubMed]
Free PMC Article
19.

Dopamine transporter SLC6A3 genotype affects cortico-striatal activity of set-shifts in Parkinson's disease.

Habak C, Noreau A, Nagano-Saito A, Mejía-Constaín B, Degroot C, Strafella AP, Chouinard S, Lafontaine AL, Rouleau GA, Monchi O.

Brain. 2014 Nov;137(Pt 11):3025-35. doi: 10.1093/brain/awu251. Epub 2014 Sep 10.

PMID:
25212851
[PubMed - indexed for MEDLINE]
20.

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, Ey E, Toro R, Peyre H, Mathieu A, Amsellem F, Rastam M, Gillberg IC, Rappold GA, Holt R, Monaco AP, Maestrini E, Galan P, Heron D, Jacquette A, Afenjar A, Rastetter A, Brice A, Devillard F, Assouline B, Laffargue F, Lespinasse J, Chiesa J, Rivier F, Bonneau D, Regnault B, Zelenika D, Delepine M, Lathrop M, Sanlaville D, Schluth-Bolard C, Edery P, Perrin L, Tabet AC, Schmeisser MJ, Boeckers TM, Coleman M, Sato D, Szatmari P, Scherer SW, Rouleau GA, Betancur C, Leboyer M, Gillberg C, Delorme R, Bourgeron T.

PLoS Genet. 2014 Sep 4;10(9):e1004580. doi: 10.1371/journal.pgen.1004580. eCollection 2014 Sep.

PMID:
25188300
[PubMed - in process]
Free PMC Article
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