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Results: 1 to 20 of 596

1.

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 Jul 10. doi: 10.1002/ana.24215. [Epub ahead of print]

PMID:
25042818
[PubMed - as supplied by publisher]
2.

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 Jul 16. [Epub ahead of print]

PMID:
25026993
[PubMed - as supplied by publisher]
3.

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 - in process]
4.

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.

Kahle KT, Merner ND, Friedel P, Silayeva L, Liang B, Khanna A, Shang Y, Lachance-Touchette P, Bourassa C, Levert A, Dion PA, Walcott B, Spiegelman D, Dionne-Laporte A, Hodgkinson A, Awadalla P, Nikbakht H, Majewski J, Cossette P, Deeb TZ, Moss SJ, Medina I, Rouleau GA.

EMBO Rep. 2014 Jul;15(7):766-74. doi: 10.15252/embr.201438840. Epub 2014 Jun 13.

PMID:
24928908
[PubMed - in process]
Free Article
5.

An 18 alanine repeat in a severe form of oculopharyngeal muscular dystrophy.

Jouan L, Rocheford D, Szuto A, Carney E, David K, Dion PA, Rouleau GA.

Can J Neurol Sci. 2014 Jul;41(4):508-11. No abstract available.

PMID:
24878479
[PubMed - in process]
6.

Genetics of essential tremor: From phenotype to genes, insights from both human and mouse studies.

Schmouth JF, Dion PA, Rouleau GA.

Prog Neurobiol. 2014 May 10. pii: S0301-0082(14)00050-1. doi: 10.1016/j.pneurobio.2014.05.001. [Epub ahead of print] Review.

PMID:
24820404
[PubMed - as supplied by publisher]
7.

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

Perrault I, Hamdan FF, Rio M, Capo-Chichi JM, Boddaert N, Décarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gérard X, Barcia G, Berquin P, Munnich A, Rouleau GA, Kaplan J, Rozet JM, Michaud JL.

Am J Hum Genet. 2014 Jun 5;94(6):891-7. doi: 10.1016/j.ajhg.2014.04.012. Epub 2014 May 8.

PMID:
24814191
[PubMed - in process]
8.

The genetic landscape of infantile spasms.

Michaud JL, Lachance M, Hamdan FF, Carmant L, Lortie A, Diadori P, Major P, Meijer IA, Lemyre E, Cossette P, Mefford HC, Rouleau GA, Rossignol E.

Hum Mol Genet. 2014 Apr 29. pii: ddu199. [Epub ahead of print]

PMID:
24781210
[PubMed - as supplied by publisher]
9.

Dissection of genetic factors associated with amyotrophic lateral sclerosis.

Leblond CS, Kaneb HM, Dion PA, Rouleau GA.

Exp Neurol. 2014 Apr 26. pii: S0014-4886(14)00115-0. doi: 10.1016/j.expneurol.2014.04.013. [Epub ahead of print] Review.

PMID:
24780888
[PubMed - as supplied by publisher]
10.

Psychosocial Profile and Lived Experience of HIV-infected Long-term Nonprogressors: A Mixed Method Study.

Côté J, Bourbonnais A, Rouleau G, Ramirez-Garcìa P, Couture M, Massé B, Tremblay C.

J Assoc Nurses AIDS Care. 2014 Apr 20. pii: S1055-3290(14)00047-8. doi: 10.1016/j.jana.2014.02.007. [Epub ahead of print]

PMID:
24759059
[PubMed - as supplied by publisher]
11.

Quantitative trait loci (QTL) study identifies novel genomic regions associated to Chiari-like malformation in Griffon Bruxellois dogs.

Lemay P, Knowler SP, Bouasker S, Nédélec Y, Platt S, Freeman C, Child G, Barreiro LB, Rouleau GA, Rusbridge C, Kibar Z.

PLoS One. 2014 Apr 16;9(4):e89816. doi: 10.1371/journal.pone.0089816. eCollection 2014.

PMID:
24740420
[PubMed - in process]
Free PMC Article
12.

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.

Akimoto C, Volk AE, van Blitterswijk M, Van den Broeck M, Leblond CS, Lumbroso S, Camu W, Neitzel B, Onodera O, van Rheenen W, Pinto S, Weber M, Smith B, Proven M, Talbot K, Keagle P, Chesi A, Ratti A, van der Zee J, Alstermark H, Birve A, Calini D, Nordin A, Tradowsky DC, Just W, Daoud H, Angerbauer S, DeJesus-Hernandez M, Konno T, Lloyd-Jani A, de Carvalho M, Mouzat K, Landers JE, Veldink JH, Silani V, Gitler AD, Shaw CE, Rouleau GA, van den Berg LH, Van Broeckhoven C, Rademakers R, Andersen PM, Kubisch C.

J Med Genet. 2014 Jun;51(6):419-24. doi: 10.1136/jmedgenet-2014-102360. Epub 2014 Apr 4.

PMID:
24706941
[PubMed - in process]
Free PMC Article
13.

Molecular aspects of hereditary spastic paraplegia.

Noreau A, Dion PA, Rouleau GA.

Exp Cell Res. 2014 Jul 1;325(1):18-26. doi: 10.1016/j.yexcr.2014.02.021. Epub 2014 Mar 11.

PMID:
24631291
[PubMed - in process]
14.

Genome-wide association study reveals two new risk loci for bipolar disorder.

Mühleisen TW, Leber M, Schulze TG, Strohmaier J, Degenhardt F, Treutlein J, Mattheisen M, Forstner AJ, Schumacher J, Breuer R, Meier S, Herms S, Hoffmann P, Lacour A, Witt SH, Reif A, Müller-Myhsok B, Lucae S, Maier W, Schwarz M, Vedder H, Kammerer-Ciernioch J, Pfennig A, Bauer M, Hautzinger M, Moebus S, Priebe L, Czerski PM, Hauser J, Lissowska J, Szeszenia-Dabrowska N, Brennan P, McKay JD, Wright A, Mitchell PB, Fullerton JM, Schofield PR, Montgomery GW, Medland SE, Gordon SD, Martin NG, Krasnow V, Chuchalin A, Babadjanova G, Pantelejeva G, Abramova LI, Tiganov AS, Polonikov A, Khusnutdinova E, Alda M, Grof P, Rouleau GA, Turecki G, Laprise C, Rivas F, Mayoral F, Kogevinas M, Grigoroiu-Serbanescu M, Propping P, Becker T, Rietschel M, Nöthen MM, Cichon S.

Nat Commun. 2014 Mar 11;5:3339. doi: 10.1038/ncomms4339.

PMID:
24618891
[PubMed - in process]
15.

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.

Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, Meloche C, Gravel M, Drouin CA, Rouleau GA, Nguyen DK, Cossette P.

JAMA Neurol. 2014 Apr;71(4):470-5. doi: 10.1001/jamaneurol.2013.6337.

PMID:
24566826
[PubMed - indexed for MEDLINE]
16.

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.

Esteves T, Durr A, Mundwiller E, Loureiro JL, Boutry M, Gonzalez MA, Gauthier J, El-Hachimi KH, Depienne C, Muriel MP, Acosta Lebrigio RF, Gaussen M, Noreau A, Speziani F, Dionne-Laporte A, Deleuze JF, Dion P, Coutinho P, Rouleau GA, Zuchner S, Brice A, Stevanin G, Darios F.

Am J Hum Genet. 2014 Feb 6;94(2):268-77. doi: 10.1016/j.ajhg.2013.12.005. Epub 2014 Jan 2.

PMID:
24388663
[PubMed - indexed for MEDLINE]
17.

Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans.

Therrien M, Rouleau GA, Dion PA, Parker JA.

PLoS One. 2013 Dec 12;8(12):e83450. doi: 10.1371/journal.pone.0083450. eCollection 2013.

PMID:
24349511
[PubMed - in process]
Free PMC Article
18.

Decreased global methylation in patients with bipolar disorder who respond to lithium.

Huzayyin AA, Andreazza AC, Turecki G, Cruceanu C, Rouleau GA, Alda M, Young LT.

Int J Neuropsychopharmacol. 2014 Apr;17(4):561-9. doi: 10.1017/S1461145713001569. Epub 2013 Dec 17.

PMID:
24345589
[PubMed - in process]
19.

Response Inhibition in Tic Disorders: Waiting to Respond Is Harder When ADHD Is Present.

Thibeault M, Lemay M, Chouinard S, Lespérance P, Rouleau GA, Richer F.

J Atten Disord. 2013 Dec 4. [Epub ahead of print]

PMID:
24305059
[PubMed - as supplied by publisher]
20.

Alterations in phosphorylated cAMP response element-binding protein (pCREB) signaling: an endophenotype of lithium-responsive bipolar disorder?

Alda M, Shao L, Wang JF, Lopez de Lara C, Jaitovich-Groisman I, Lebel V, Sun X, Duffy A, Grof P, Rouleau GA, Turecki G, Young LT.

Bipolar Disord. 2013 Dec;15(8):824-31. doi: 10.1111/bdi.12131. Epub 2013 Nov 14.

PMID:
24238631
[PubMed - indexed for MEDLINE]

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