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Results: 1 to 20 of 618

1.

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]
2.

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
3.

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 1;172(1):94-5. doi: 10.1176/appi.ajp.2014.14070855. No abstract available.

PMID:
25553497
[PubMed - in process]
4.

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]
5.

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]
6.

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]
7.

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]
8.

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]
9.

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
10.

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. 2014 Oct 24. pii: ddu545. [Epub ahead of print]

PMID:
25343993
[PubMed - as supplied by publisher]
11.

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]
12.

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]
13.

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
14.

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 - in process]
15.

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
16.

Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.

Yu D, Mathews CA, Scharf JM, Neale BM, Davis LK, Gamazon ER, Derks EM, Evans P, Edlund CK, Crane J, Fagerness JA, Osiecki L, Gallagher P, Gerber G, Haddad S, Illmann C, McGrath LM, Mayerfeld C, Arepalli S, Barlassina C, Barr CL, Bellodi L, Benarroch F, Berrió GB, Bienvenu OJ, Black DW, Bloch MH, Brentani H, Bruun RD, Budman CL, Camarena B, Campbell DD, Cappi C, Silgado JC, Cavallini MC, Chavira DA, Chouinard S, Cook EH, Cookson MR, Coric V, Cullen B, Cusi D, Delorme R, Denys D, Dion Y, Eapen V, Egberts K, Falkai P, Fernandez T, Fournier E, Garrido H, Geller D, Gilbert DL, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Hardy J, Heiman GA, Hemmings SM, Herrera LD, Hezel DM, Hoekstra PJ, Jankovic J, Kennedy JL, King RA, Konkashbaev AI, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Lupoli S, Macciardi F, Maier W, Manunta P, Marconi M, McCracken JT, Mesa Restrepo SC, Moessner R, Moorjani P, Morgan J, Muller H, Murphy DL, Naarden AL, Nurmi E, Ochoa WC, Ophoff RA, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner T, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosário MC, Rosenberg D, Ruhrmann S, Sabatti C, Salvi E, Sampaio AS, Samuels J, Sandor P, Service SK, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Turiel M, Valencia Duarte AV, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Weale M, Weiss R, Wendland JR, Westenberg HG, Shugart YY, Hounie AG, Miguel EC, Nicolini H, Wagner M, Ruiz-Linares A, Cath DC, McMahon W, Posthuma D, Oostra BA, Nestadt G, Rouleau GA, Purcell S, Jenike MA, Heutink P, Hanna GL, Conti DV, Arnold PD, Freimer NB, Stewart SE, Knowles JA, Cox NJ, Pauls DL.

Am J Psychiatry. 2015 Jan 1;172(1):82-93. doi: 10.1176/appi.ajp.2014.13101306. Epub 2014 Oct 31.

PMID:
25158072
[PubMed - in process]
17.

Linking neocortical, cognitive, and genetic variability in autism with alterations of brain plasticity: the Trigger-Threshold-Target model.

Mottron L, Belleville S, Rouleau GA, Collignon O.

Neurosci Biobehav Rev. 2014 Nov;47:735-52. doi: 10.1016/j.neubiorev.2014.07.012. Epub 2014 Aug 22.

PMID:
25155242
[PubMed - in process]
Free Article
18.

Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene.

Arkadir D, Noreau A, Goldman JS, Rouleau GA, Alcvalay RN.

Eur J Neurol. 2014;21(1):e2. doi: 10.1111/ene.12284. Epub 2013 Dec 10. No abstract available.

PMID:
25133278
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

ODD irritability is associated with obsessive-compulsive behavior and not ADHD in chronic tic disorders.

Thériault MC, Lespérance P, Achim A, Tellier G, Diab S, Rouleau GA, Chouinard S, Richer F.

Psychiatry Res. 2014 Dec 15;220(1-2):447-52. doi: 10.1016/j.psychres.2014.07.039. Epub 2014 Jul 28.

PMID:
25108592
[PubMed - in process]
20.

Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.

Ahmed I, Mittal K, Sheikh TI, Vasli N, Rafiq MA, Mikhailov A, Ohadi M, Mahmood H, Rouleau GA, Bhatti A, Ayub M, Srour M, John P, Vincent JB.

Hum Genet. 2014 Nov;133(11):1419-29. doi: 10.1007/s00439-014-1475-8. Epub 2014 Aug 7.

PMID:
25098561
[PubMed - indexed for MEDLINE]

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