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Items: 1 to 50 of 132

1.

Screening of novel restless legs syndrome-associated genes in French-Canadian families.

Akçimen F, Spiegelman D, Dionne-Laporte A, Gan-Or Z, Dion PA, Rouleau GA.

Neurol Genet. 2018 Dec 20;4(6):e296. doi: 10.1212/NXG.0000000000000296. eCollection 2018 Dec.

PMID:
30637332
2.

Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males.

Ambalavanan A, Chaumette B, Zhou S, Xie P, He Q, Spiegelman D, Dionne-Laporte A, Bourassa CV, Therrien M, Rochefort D, Xiong L, Dion PA, Joober R, Rapoport JL, Girard SL, Rouleau GA.

Am J Med Genet B Neuropsychiatr Genet. 2018 Oct 30. doi: 10.1002/ajmg.b.32683. [Epub ahead of print]

PMID:
30378261
3.

Investigating the association and causal relationship between restless legs syndrome and essential tremor.

Liao C, Houle G, He Q, Laporte AD, Girard SL, Dion PA, Rouleau GA.

Parkinsonism Relat Disord. 2018 Oct 19. pii: S1353-8020(18)30458-9. doi: 10.1016/j.parkreldis.2018.10.022. [Epub ahead of print] No abstract available.

PMID:
30366831
4.

Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases.

Schmouth JF, Houle G, Ambalavanan A, Leblond CS, Spiegelman D, Laurent SB, Bourassa CV, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Dion PA, Rouleau GA.

Mol Neurobiol. 2018 Oct 12. doi: 10.1007/s12035-018-1369-1. [Epub ahead of print]

PMID:
30315477
5.

A direct interaction between two Restless Legs Syndrome predisposing genes: MEIS1 and SKOR1.

Catoire H, Sarayloo F, Mourabit Amari K, Apuzzo S, Grant A, Rochefort D, Xiong L, Montplaisir J, Earley CJ, Turecki G, Dion PA, Rouleau GA.

Sci Rep. 2018 Aug 15;8(1):12173. doi: 10.1038/s41598-018-30665-6.

6.

Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia.

Chaumette B, Ferrafiat V, Ambalavanan A, Goldenberg A, Dionne-Laporte A, Spiegelman D, Dion PA, Gerardin P, Laurent C, Cohen D, Rapoport J, Rouleau GA.

Mol Psychiatry. 2018 Jun 12. doi: 10.1038/s41380-018-0103-8. [Epub ahead of print]

7.

Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing.

Walcott BP, Winkler EA, Zhou S, Birk H, Guo D, Koch MJ, Stapleton CJ, Spiegelman D, Dionne-Laporte A, Dion PA, Kahle KT, Rouleau GA, Lawton MT.

Hum Genome Var. 2018 Mar 8;5:18001. doi: 10.1038/hgv.2018.1. eCollection 2018.

8.

Multimodal neuroimaging analysis in patients with SYNE1 Ataxia.

Gama MTD, Piccinin CC, Rezende TJR, Dion PA, Rouleau GA, França Junior MC, Barsottini OGP, Pedroso JL.

J Neurol Sci. 2018 Jul 15;390:227-230. doi: 10.1016/j.jns.2018.05.003. Epub 2018 May 4.

PMID:
29801895
9.

Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder.

Li J, Ruskey JA, Arnulf I, Dauvilliers Y, Hu MTM, Högl B, Leblond CS, Zhou S, Ambalavanan A, Ross JP, Bourassa CV, Spiegelman D, Laurent SB, Stefani A, Charley Monaca C, Cochen De Cock V, Boivin M, Ferini-Strambi L, Plazzi G, Antelmi E, Young P, Heidbreder A, Labbe C, Ferman TJ, Dion PA, Fan D, Desautels A, Gagnon JF, Dupré N, Fon EA, Montplaisir JY, Boeve BF, Postuma RB, Rouleau GA, Ross OA, Gan-Or Z.

Mov Disord. 2018 Jul;33(6):1016-1020. doi: 10.1002/mds.27385. Epub 2018 May 14.

PMID:
29756641
10.

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

Lyahyai J, Bencheikh BOA, Elalaoui SC, Mansouri M, Boualla L, DIonne-Laporte A, Spiegelman D, Dion PA, Cossette P, Rouleau GA, Sefiani A.

BMC Pediatr. 2018 Apr 17;18(1):138. doi: 10.1186/s12887-018-1114-y.

11.

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population.

Zhou S, Gan-Or Z, Ambalavanan A, Lai D, Xie P, Bourassa CV, Strong S, Ross JP, Dionne-Laporte A, Spiegelman D, Dupré N, Foroud TM, Xiong L, Dion PA, Rouleau GA.

Sci Rep. 2018 Mar 12;8(1):4356. doi: 10.1038/s41598-018-21603-7.

12.

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

Lyahyai J, Ouled Amar Bencheikh B, Elalaoui SC, Mansouri M, Boualla L, DIonne-Laporte A, Spiegelman D, Dion PA, Cossette P, Rouleau GA, Sefiani A.

BMC Pediatr. 2018 Feb 27;18(1):90. doi: 10.1186/s12887-018-1063-5. Erratum in: BMC Pediatr. 2018 Apr 17;18(1):138.

13.

Genetics of Intracranial Aneurysms.

Zhou S, Dion PA, Rouleau GA.

Stroke. 2018 Mar;49(3):780-787. doi: 10.1161/STROKEAHA.117.018152. Epub 2018 Feb 6. Review. No abstract available.

PMID:
29437983
14.

TOX3 Variants Are Involved in Restless Legs Syndrome and Parkinson's Disease with Opposite Effects.

Mohtashami S, He Q, Ruskey JA, Zhou S, Dion PA, Allen RP, Earley CJ, Fon EA, Xiong L, Dupre N, Dauvilliers Y, Rouleau GA, Gan-Or Z.

J Mol Neurosci. 2018 Mar;64(3):341-345. doi: 10.1007/s12031-018-1031-4. Epub 2018 Feb 5.

PMID:
29404899
15.

Association study of essential tremor genetic loci in Parkinson's disease.

Ross JP, Mohtashami S, Leveille E, Johnson AM, Xiong L, Dion PA, Fon E, Dauvilliers Y, Dupré N, Rouleau GA, Gan-Or Z.

Neurobiol Aging. 2018 Jun;66:178.e13-178.e15. doi: 10.1016/j.neurobiolaging.2018.01.001. Epub 2018 Jan 6.

PMID:
29398123
16.

Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors.

Cruceanu C, Schmouth JF, Torres-Platas SG, Lopez JP, Ambalavanan A, Darcq E, Gross F, Breton B, Spiegelman D, Rochefort D, Hince P, Petite JM, Gauthier J, Lafrenière RG, Dion PA, Greenwood CM, Kieffer BL, Alda M, Turecki G, Rouleau GA.

Mol Psychiatry. 2018 Oct;23(10):2050-2056. doi: 10.1038/mp.2017.223. Epub 2017 Nov 21.

PMID:
29158579
17.

No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor.

Houle G, Ambalavanan A, Schmouth JF, Leblond CS, Spiegelman D, Laurent SB, Bourassa CV, Grayson C, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Girard SL, Dion PA, Rouleau GA.

Neurol Genet. 2017 Oct 19;3(5):e195. doi: 10.1212/NXG.0000000000000195. eCollection 2017 Oct.

18.

FOXP1-related intellectual disability syndrome: a recognisable entity.

Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B.

J Med Genet. 2017 Sep;54(9):613-623. doi: 10.1136/jmedgenet-2017-104579. Epub 2017 Jul 22. Erratum in: J Med Genet. 2018 Jan;55(1):72-73. J Med Genet. 2018 Feb 13;:.

PMID:
28735298
19.

KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects.

Bowerman M, Salsac C, Bernard V, Soulard C, Dionne A, Coque E, Benlefki S, Hince P, Dion PA, Butler-Browne G, Camu W, Bouchard JP, Delpire E, Rouleau GA, Raoul C, Scamps F.

Neurobiol Dis. 2017 Oct;106:35-48. doi: 10.1016/j.nbd.2017.06.013. Epub 2017 Jun 21.

PMID:
28647557
20.

CPT1A Missense Mutation Associated With Fatty Acid Metabolism and Reduced Height in Greenlanders.

Skotte L, Koch A, Yakimov V, Zhou S, Søborg B, Andersson M, Michelsen SW, Navne JE, Mistry JM, Dion PA, Pedersen ML, Børresen ML, Rouleau GA, Geller F, Melbye M, Feenstra B.

Circ Cardiovasc Genet. 2017 Jun;10(3). pii: e001618. doi: 10.1161/CIRCGENETICS.116.001618.

PMID:
28611031
21.

Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population.

Houle G, Schmouth JF, Leblond CS, Ambalavanan A, Spiegelman D, Laurent SB, Bourassa CV, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Dion PA, Rouleau GA.

Mov Disord. 2017 Feb;32(2):292-295. doi: 10.1002/mds.26753. Epub 2017 Feb 3.

PMID:
28158909
22.

RIC3 variants are not associated with Parkinson's disease in French-Canadians and French.

Ross JP, Dupré N, Dauvilliers Y, Strong S, Dionne-Laporte A, Dion PA, Rouleau GA, Gan-Or Z.

Neurobiol Aging. 2017 May;53:194.e9-194.e11. doi: 10.1016/j.neurobiolaging.2017.01.005. Epub 2017 Jan 11.

PMID:
28153381
23.

Genetics of restless legs syndrome.

Winkelmann J, Schormair B, Xiong L, Dion PA, Rye DB, Rouleau GA.

Sleep Med. 2017 Mar;31:18-22. doi: 10.1016/j.sleep.2016.10.012. Epub 2016 Nov 12.

PMID:
28065402
24.

Clinical and genetic study of hereditary spastic paraplegia in Canada.

Chrestian N, Dupré N, Gan-Or Z, Szuto A, Chen S, Venkitachalam A, Brisson JD, Warman-Chardon J, Ahmed S, Ashtiani S, MacDonald H, Mohsin N, Mourabit-Amari K, Provencher P, Boycott KM, Stavropoulos DJ, Dion PA, Ray PN, Suchowersky O, Rouleau GA, Yoon G.

Neurol Genet. 2016 Dec 5;3(1):e122. eCollection 2017 Feb.

25.

The dementia-associated APOE ε4 allele is not associated with rapid eye movement sleep behavior disorder.

Gan-Or Z, Montplaisir JY, Ross JP, Poirier J, Warby SC, Arnulf I, Strong S, Dauvilliers Y, Leblond CS, Hu MTM, Högl B, Stefani A, Monaca CC, De Cock VC, Boivin M, Ferini-Strambi L, Plazzi G, Antelmi E, Young P, Heidbreder A, Barber TR, Evetts SG, Rolinski M, Dion PA, Desautels A, Gagnon JF, Dupré N, Postuma RB, Rouleau GA.

Neurobiol Aging. 2017 Jan;49:218.e13-218.e15. doi: 10.1016/j.neurobiolaging.2016.10.002. Epub 2016 Oct 13.

PMID:
27814994
26.

Genome-wide association study in essential tremor identifies three new loci.

Müller SH, Girard SL, Hopfner F, Merner ND, Bourassa CV, Lorenz D, Clark LN, Tittmann L, Soto-Ortolaza AI, Klebe S, Hallett M, Schneider SA, Hodgkinson CA, Lieb W, Wszolek ZK, Pendziwiat M, Lorenzo-Betancor O, Poewe W, Ortega-Cubero S, Seppi K, Rajput A, Hussl A, Rajput AH, Berg D, Dion PA, Wurster I, Shulman JM, Srulijes K, Haubenberger D, Pastor P, Vilariño-Güell C, Postuma RB, Bernard G, Ladwig KH, Dupré N, Jankovic J, Strauch K, Panisset M, Winkelmann J, Testa CM, Reischl E, Zeuner KE, Ross OA, Arzberger T, Chouinard S, Deuschl G, Louis ED, Kuhlenbäumer G, Rouleau GA.

Brain. 2016 Dec;139(Pt 12):3163-3169. Epub 2016 Oct 20.

27.

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.

Zhou S, Ambalavanan A, Rochefort D, Xie P, Bourassa CV, Hince P, Dionne-Laporte A, Spiegelman D, Gan-Or Z, Mirarchi C, Zaharieva V, Dupré N, Kobayashi H, Hitomi T, Harada K, Koizumi A, Xiong L, Dion PA, Rouleau GA.

Am J Hum Genet. 2016 Nov 3;99(5):1072-1085. doi: 10.1016/j.ajhg.2016.09.001. Epub 2016 Oct 13.

28.

A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.

Diomedi M, Gan-Or Z, Placidi F, Dion PA, Szuto A, Bengala M, Rouleau GA, Gigli GL.

Eur J Med Genet. 2016 Nov;59(11):564-568. doi: 10.1016/j.ejmg.2016.10.003. Epub 2016 Oct 8.

PMID:
27725288
29.

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals.

Girard SL, Bourassa CV, Lemieux Perreault LP, Legault MA, Barhdadi A, Ambalavanan A, Brendgen M, Vitaro F, Noreau A, Dionne G, Tremblay RE, Dion PA, Boivin M, Dubé MP, Rouleau GA.

PLoS One. 2016 Oct 10;11(10):e0164212. doi: 10.1371/journal.pone.0164212. eCollection 2016.

30.

SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.

Gama MT, Houle G, Noreau A, Dionne-Laporte A, Dion PA, Rouleau GA, Barsottini OG, Pedroso JL.

Mov Disord. 2016 Nov;31(11):1754-1756. doi: 10.1002/mds.26810. Epub 2016 Sep 27. No abstract available.

PMID:
27671794
31.

GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis.

Mallett V, Ross JP, Alcalay RN, Ambalavanan A, Sidransky E, Dion PA, Rouleau GA, Gan-Or Z.

Neurol Genet. 2016 Sep 8;2(5):e104. doi: 10.1212/NXG.0000000000000104. eCollection 2016 Oct.

32.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, Vance C, Troakes C, Colombrita C, Mora G, Calvo A, Verde F, Al-Sarraj S, King A, Calini D, de Belleroche J, Baas F, van der Kooi AJ, de Visser M, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Muñoz-Blanco JL, Strom TM, Meitinger T, Morrison KE; SLAGEN Consortium, Lauria G, Williams KL, Leigh PN, Nicholson GA, Blair IP, Leblond CS, Dion PA, Rouleau GA, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Boylan KB, Van Blitterswijk M, Rademakers R, Esteban-Pérez J, García-Redondo A, Van Damme P, Robberecht W, Chio A, Gellera C, Drepper C, Sendtner M, Ratti A, Glass JD, Mora JS, Basak NA, Hardiman O, Ludolph AC, Andersen PM, Weishaupt JH, Brown RH Jr, Al-Chalabi A, Silani V, Shaw CE, van den Berg LH, Veldink JH, Landers JE.

Nat Genet. 2016 Sep;48(9):1037-42. doi: 10.1038/ng.3626. Epub 2016 Jul 25.

33.

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuk A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupré N, Suchowersky O, Bolduc FV, Parker JA, Dion PA, Drapeau P, Rouleau GA, Ouled Amar Bencheikh B.

Am J Hum Genet. 2016 Jun 2;98(6):1271. doi: 10.1016/j.ajhg.2016.05.009. Epub 2016 Jun 2. No abstract available.

34.

Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease.

Ross JP, Dupre N, Dauvilliers Y, Strong S, Ambalavanan A, Spiegelman D, Dionne-Laporte A, Pourcher E, Langlois M, Boivin M, Leblond CS, Dion PA, Rouleau GA, Gan-Or Z.

Neurobiol Aging. 2016 Sep;45:212.e13-212.e17. doi: 10.1016/j.neurobiolaging.2016.04.023. Epub 2016 May 3.

35.

KCC3 axonopathy: neuropathological features in the central and peripheral nervous system.

Auer RN, Laganière JL, Robitaille YO, Richardson J, Dion PA, Rouleau GA, Shekarabi M.

Mod Pathol. 2016 Sep;29(9):962-76. doi: 10.1038/modpathol.2016.90. Epub 2016 May 27.

36.

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuk A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupré N, Suchowersky O, Bolduc FV, Parker JA, Dion PA, Drapeau P, Rouleau GA, Ouled Amar Bencheikh B.

Am J Hum Genet. 2016 May 5;98(5):1038-1046. doi: 10.1016/j.ajhg.2016.04.002. Erratum in: Am J Hum Genet. 2016 Jun 2;98 (6):1271.

37.

The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.

Gan-Or Z, Mohsin N, Girard SL, Montplaisir JY, Ambalavanan A, Strong S, Mallett V, Laurent SB, Bourassa CV, Boivin M, Langlois M, Arnulf I, Högl B, Frauscher B, Monaca C, Desautels A, Gagnon JF, Postuma RB, Dion PA, Dauvilliers Y, Dupre N, Alcalay RN, Rouleau GA.

Neurobiol Aging. 2016 Jul;43:180.e7-180.e13. doi: 10.1016/j.neurobiolaging.2016.03.029. Epub 2016 Apr 6.

38.

De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia.

Leblond CS, Webber A, Gan-Or Z, Moore F, Dagher A, Dion PA, Rouleau GA.

Neurol Genet. 2016 Mar 10;2(2):e63. doi: 10.1212/NXG.0000000000000063. eCollection 2016 Apr.

39.

FET proteins regulate lifespan and neuronal integrity.

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

Sci Rep. 2016 Apr 27;6:25159. doi: 10.1038/srep25159.

40.

ALS: Recent Developments from Genetics Studies.

Therrien M, Dion PA, Rouleau GA.

Curr Neurol Neurosci Rep. 2016 Jun;16(6):59. doi: 10.1007/s11910-016-0658-1. Review.

PMID:
27113253
41.

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

Williams KL, Topp S, Yang S, Smith B, Fifita JA, Warraich ST, Zhang KY, Farrawell N, Vance C, Hu X, Chesi A, Leblond CS, Lee A, Rayner SL, Sundaramoorthy V, Dobson-Stone C, Molloy MP, van Blitterswijk M, Dickson DW, Petersen RC, Graff-Radford NR, Boeve BF, Murray ME, Pottier C, Don E, Winnick C, McCann EP, Hogan A, Daoud H, Levert A, Dion PA, Mitsui J, Ishiura H, Takahashi Y, Goto J, Kost J, Gellera C, Gkazi AS, Miller J, Stockton J, Brooks WS, Boundy K, Polak M, Muñoz-Blanco JL, Esteban-Pérez J, Rábano A, Hardiman O, Morrison KE, Ticozzi N, Silani V, de Belleroche J, Glass JD, Kwok JB, Guillemin GJ, Chung RS, Tsuji S, Brown RH Jr, García-Redondo A, Rademakers R, Landers JE, Gitler AD, Rouleau GA, Cole NJ, Yerbury JJ, Atkin JD, Shaw CE, Nicholson GA, Blair IP.

Nat Commun. 2016 Apr 15;7:11253. doi: 10.1038/ncomms11253.

42.

Inhibition of the kinase WNK1/HSN2 ameliorates neuropathic pain by restoring GABA inhibition.

Kahle KT, Schmouth JF, Lavastre V, Latremoliere A, Zhang J, Andrews N, Omura T, Laganière J, Rochefort D, Hince P, Castonguay G, Gaudet R, Mapplebeck JC, Sotocinal SG, Duan J, Ward C, Khanna AR, Mogil JS, Dion PA, Woolf CJ, Inquimbert P, Rouleau GA.

Sci Signal. 2016 Mar 29;9(421):ra32. doi: 10.1126/scisignal.aad0163.

43.

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD.

Niblock M, Smith BN, Lee YB, Sardone V, Topp S, Troakes C, Al-Sarraj S, Leblond CS, Dion PA, Rouleau GA, Shaw CE, Gallo JM.

Acta Neuropathol Commun. 2016 Feb 25;4:18. doi: 10.1186/s40478-016-0289-4.

44.

Case-Control and Family-Based Association Study of Specific PTPRD Variants in Restless Legs Syndrome.

Gan-Or Z, Zhou S, Johnson A, Montplaisir JY, Allen RP, Earley CJ, Desautels A, Dion PA, Xiong L, Rouleau GA.

Mov Disord Clin Pract. 2016 Jan 9;3(5):460-464. doi: 10.1002/mdc3.12306. eCollection 2016 Sep-Oct.

45.

De novo variants in sporadic cases of childhood onset schizophrenia.

Ambalavanan A, Girard SL, Ahn K, Zhou S, Dionne-Laporte A, Spiegelman D, Bourassa CV, Gauthier J, Hamdan FF, Xiong L, Dion PA, Joober R, Rapoport J, Rouleau GA.

Eur J Hum Genet. 2016 Jun;24(6):944-8. doi: 10.1038/ejhg.2015.218. Epub 2015 Oct 28.

46.

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis.

Leblond CS, Gan-Or Z, Spiegelman D, Laurent SB, Szuto A, Hodgkinson A, Dionne-Laporte A, Provencher P, de Carvalho M, Orrù S, Brunet D, Bouchard JP, Awadalla P, Dupré N, Dion PA, Rouleau GA.

Neurobiol Aging. 2016 Jan;37:209.e17-209.e21. doi: 10.1016/j.neurobiolaging.2015.09.013. Epub 2015 Sep 28.

PMID:
26493020
47.

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder.

Gan-Or Z, Mirelman A, Postuma RB, Arnulf I, Bar-Shira A, Dauvilliers Y, Desautels A, Gagnon JF, Leblond CS, Frauscher B, Alcalay RN, Saunders-Pullman R, Bressman SB, Marder K, Monaca C, Högl B, Orr-Urtreger A, Dion PA, Montplaisir JY, Giladi N, Rouleau GA.

Ann Clin Transl Neurol. 2015 Sep;2(9):941-5. doi: 10.1002/acn3.228. Epub 2015 Jul 31.

48.

Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome.

Gan-Or Z, Zhou S, Ambalavanan A, Leblond CS, Xie P, Johnson A, Spiegelman D, Allen RP, Earley CJ, Desautels A, Montplaisir JY, Dion PA, Xiong L, Rouleau GA.

Sleep Med. 2015 Sep;16(9):1151-5. doi: 10.1016/j.sleep.2015.06.002. Epub 2015 Jun 17.

PMID:
26298793
49.

Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia.

Daoud H, Papadima EM, Ouled Amar Bencheikh B, Katsila T, Dionne-Laporte A, Spiegelman D, Dion PA, Patrinos GP, Orrù S, Rouleau GA.

Eur J Med Genet. 2015 Nov;58(11):573-7. doi: 10.1016/j.ejmg.2015.08.001. Epub 2015 Aug 7.

PMID:
26260707
50.

Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family.

Noreau A, La Piana R, Marcoux C; FORGE Canada, Dion PA, Brais B, Bernard G, Rouleau GA.

Neurogenetics. 2015 Oct;16(4):315-8. doi: 10.1007/s10048-015-0455-z. Epub 2015 Aug 11.

PMID:
26260654

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