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Results: 1 to 20 of 613

1.

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]
2.

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 4:1-4. [Epub ahead of print]

PMID:
25377888
[PubMed - as supplied by publisher]
3.

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; SLAGEN Consortium.

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

PMID:
25374358
[PubMed - in process]
4.

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
5.

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]
6.

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. 2014 Sep 29. doi: 10.1002/humu.22709. [Epub ahead of print]

PMID:
25265257
[PubMed - as supplied by publisher]
7.

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 - in process]
8.

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
9.

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]
10.

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
11.

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 D, 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. 2014 Aug 26. doi: 10.1176/appi.ajp.2014.13101306. [Epub ahead of print]

PMID:
25158072
[PubMed - as supplied by publisher]
12.

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 Aug 21. pii: S0149-7634(14)00177-8. doi: 10.1016/j.neubiorev.2014.07.012. [Epub ahead of print] Review.

PMID:
25155242
[PubMed - as supplied by publisher]
Free Article
13.

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]
14.

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 Jul 28. pii: S0165-1781(14)00618-0. doi: 10.1016/j.psychres.2014.07.039. [Epub ahead of print]

PMID:
25108592
[PubMed - as supplied by publisher]
15.

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 - in process]
16.

Vanishing white matter disease in French-Canadian patients from Quebec.

Robinson MÈ, Rossignol E, Brais B, Rouleau G, Arbour JF, Bernard G.

Pediatr Neurol. 2014 Aug;51(2):225-32. doi: 10.1016/j.pediatrneurol.2014.05.006. Epub 2014 May 14.

PMID:
25079571
[PubMed - in process]
17.

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.

McGrath LM, Yu D, Marshall C, Davis LK, Thiruvahindrapuram B, Li B, Cappi C, Gerber G, Wolf A, Schroeder FA, Osiecki L, O'Dushlaine C, Kirby A, Illmann C, Haddad S, Gallagher P, Fagerness JA, Barr CL, Bellodi L, Benarroch F, Bienvenu OJ, Black DW, Bloch MH, Bruun RD, Budman CL, Camarena B, Cath DC, Cavallini MC, Chouinard S, Coric V, Cullen B, Delorme R, Denys D, Derks EM, Dion Y, Rosário MC, Eapen V, Evans P, Falkai P, Fernandez TV, Garrido H, Geller D, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Heiman GA, Hemmings SM, Herrera LD, Hounie AG, Jankovic J, Kennedy JL, King RA, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Lochner C, Lowe TL, Lyon GJ, Macciardi F, Maier W, McCracken JT, McMahon W, Murphy DL, Naarden AL, Neale BM, Nurmi E, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Reus VI, Richter MA, Riddle M, Robertson MM, Rosenberg D, Rouleau GA, Ruhrmann S, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Tischfield JA, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Wendland JR, Shugart YY, Miguel EC, Nicolini H, Oostra BA, Moessner R, Wagner M, Ruiz-Linares A, Heutink P, Nestadt G, Freimer N, Petryshen T, Posthuma D, Jenike MA, Cox NJ, Hanna GL, Brentani H, Scherer SW, Arnold PD, Stewart SE, Mathews CA, Knowles JA, Cook EH, Pauls DL, Wang K, Scharf JM.

J Am Acad Child Adolesc Psychiatry. 2014 Aug;53(8):910-9. doi: 10.1016/j.jaac.2014.04.022. Epub 2014 Jun 24.

PMID:
25062598
[PubMed - in process]
18.

Genetic association signal near NTN4 in Tourette syndrome.

Paschou P, Yu D, Gerber G, Evans P, Tsetsos F, Davis LK, Karagiannidis I, Chaponis J, Gamazon E, Mueller-Vahl K, Stuhrmann M, Schloegelhofer M, Stamenkovic M, Hebebrand J, Noethen M, Nagy P, Barta C, Tarnok Z, Rizzo R, Depienne C, Worbe Y, Hartmann A, Cath DC, Budman CL, Sandor P, Barr C, Wolanczyk T, Singer H, Chou IC, Grados M, Posthuma D, Rouleau GA, Aschauer H, Freimer NB, Pauls DL, Cox NJ, Mathews CA, Scharf JM.

Ann Neurol. 2014 Aug;76(2):310-5. doi: 10.1002/ana.24215. Epub 2014 Jul 21.

PMID:
25042818
[PubMed - in process]
19.

Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes.

Martins S, Pearson CE, Coutinho P, Provost S, Amorim A, Dubé MP, Sequeiros J, Rouleau GA.

Hum Genet. 2014 Oct;133(10):1311-8. doi: 10.1007/s00439-014-1467-8. Epub 2014 Jul 16.

PMID:
25026993
[PubMed - indexed for MEDLINE]
20.

Genome-wide association study in FTD: divide to conquer.

Girard SL, Rouleau GA.

Lancet Neurol. 2014 Jul;13(7):643-4. doi: 10.1016/S1474-4422(14)70070-5. No abstract available.

PMID:
24943334
[PubMed - indexed for MEDLINE]

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