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Items: 1 to 50 of 624

1.

CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortem.

Benedet AL, Yu L, Labbe A, Mathotaarachchi S, Pascoal TA, Shin M, Kang MS, Gauthier S, Rouleau GA, Poirier J, Bennett DA, Rosa-Neto P; Alzheimer's Disease Neuroimaging Initiative.

Neurol Genet. 2018 Jan 30;4(1):e216. doi: 10.1212/NXG.0000000000000216. eCollection 2018 Feb.

PMID:
29473050
2.

Sleep disorders and Parkinson disease; lessons from genetics.

Gan-Or Z, Alcalay RN, Rouleau GA, Postuma RB.

Sleep Med Rev. 2018 Jan 31. pii: S1087-0792(18)30007-8. doi: 10.1016/j.smrv.2018.01.006. [Epub ahead of print] Review.

PMID:
29449121
3.

Genetics of Intracranial Aneurysms.

Zhou S, Dion PA, Rouleau GA.

Stroke. 2018 Feb 6. pii: STROKEAHA.117.018152. doi: 10.1161/STROKEAHA.117.018152. [Epub ahead of print] Review. No abstract available.

PMID:
29437983
4.

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.

Accogli A, Hamdan FF, Poulin C, Nassif C, Rouleau GA, Michaud JL, Srour M.

Am J Med Genet A. 2018 Feb 12. doi: 10.1002/ajmg.a.38628. [Epub ahead of print]

PMID:
29430868
5.

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 Feb 5. doi: 10.1007/s12031-018-1031-4. [Epub ahead of print]

PMID:
29404899
6.

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 Jan 6. pii: S0197-4580(18)30001-0. doi: 10.1016/j.neurobiolaging.2018.01.001. [Epub ahead of print]

PMID:
29398123
7.

Alpha galactosidase A activity in Parkinson's disease.

Alcalay RN, Wolf P, Levy OA, Kang UJ, Waters C, Fahn S, Ford B, Kuo SH, Vanegas N, Shah H, Liong C, Narayan S, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Oliva P, Keutzer J, Marder K, Zhang XK.

Neurobiol Dis. 2018 Apr;112:85-90. doi: 10.1016/j.nbd.2018.01.012. Epub 2018 Feb 2.

PMID:
29369793
8.

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.

Boissel S, Fallet-Bianco C, Chitayat D, Kremer V, Nassif C, Rypens F, Delrue MA, Dal Soglio D, Oligny LL, Patey N, Flori E, Cloutier M, Dyment D, Campeau P, Karalis A, Nizard S, Fraser WD, Audibert F, Lemyre E, Rouleau GA, Hamdan FF, Kibar Z, Michaud JL.

Genet Med. 2017 Oct 26. doi: 10.1038/gim.2017.173. [Epub ahead of print]

PMID:
29261186
9.

POLR3A variants in hereditary spastic paraplegia and ataxia.

Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G.

Brain. 2018 Jan 1;141(1):e1. doi: 10.1093/brain/awx290. No abstract available.

PMID:
29228109
10.

Gene set enrichment analysis and expression pattern exploration implicate an involvement of neurodevelopmental processes in bipolar disorder.

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

J Affect Disord. 2018 Mar 1;228:20-25. doi: 10.1016/j.jad.2017.11.068. Epub 2017 Nov 14.

PMID:
29197740
11.

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. 2017 Nov 21. doi: 10.1038/mp.2017.223. [Epub ahead of print]

PMID:
29158579
12.

Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study.

International Consortium on Lithium Genetics (ConLi+Gen), Amare AT, Schubert KO, Hou L, Clark SR, Papiol S, Heilbronner U, Degenhardt F, Tekola-Ayele F, Hsu YH, Shekhtman T, Adli M, Akula N, Akiyama K, Ardau R, Arias B, Aubry JM, Backlund L, Bhattacharjee AK, Bellivier F, Benabarre A, Bengesser S, Biernacka JM, Birner A, Brichant-Petitjean C, Cervantes P, Chen HC, Chillotti C, Cichon S, Cruceanu C, Czerski PM, Dalkner N, Dayer A, Del Zompo M, DePaulo JR, Étain B, Falkai P, Forstner AJ, Frisen L, Frye MA, Fullerton JM, Gard S, Garnham JS, Goes FS, Grigoroiu-Serbanescu M, Grof P, Hashimoto R, Hauser J, Herms S, Hoffmann P, Hofmann A, Jamain S, Jiménez E, Kahn JP, Kassem L, Kuo PH, Kato T, Kelsoe J, Kittel-Schneider S, Kliwicki S, König B, Kusumi I, Laje G, Landén M, Lavebratt C, Leboyer M, Leckband SG, Tortorella A, Manchia M, Martinsson L, McCarthy MJ, McElroy S, Colom F, Mitjans M, Mondimore FM, Monteleone P, Nievergelt CM, Nöthen MM, Novák T, O'Donovan C, Ozaki N, Ösby U, Pfennig A, Potash JB, Reif A, Reininghaus E, Rouleau GA, Rybakowski JK, Schalling M, Schofield PR, Schweizer BW, Severino G, Shilling PD, Shimoda K, Simhandl C, Slaney CM, Squassina A, Stamm T, Stopkova P, Maj M, Turecki G, Vieta E, Volkert J, Witt S, Wright A, Zandi PP, Mitchell PB, Bauer M, Alda M, Rietschel M, McMahon FJ, Schulze TG, Baune BT.

JAMA Psychiatry. 2018 Jan 1;75(1):65-74. doi: 10.1001/jamapsychiatry.2017.3433.

PMID:
29121268
13.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL.

Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.

PMID:
29100083
14.

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.

Schormair B, Zhao C, Bell S, Tilch E, Salminen AV, Pütz B, Dauvilliers Y, Stefani A, Högl B, Poewe W, Kemlink D, Sonka K, Bachmann CG, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA, Wszolek Z, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Allen RP, Earley CJ, Ondo WG, Xiong L, Montplaisir J, Gan-Or Z, Perola M, Vodicka P, Dina C, Franke A, Tittmann L, Stewart AFR, Shah SH, Gieger C, Peters A, Rouleau GA, Berger K, Oexle K, Di Angelantonio E, Hinds DA, Müller-Myhsok B, Winkelmann J; 23andMe Research Team; DESIR study group.

Lancet Neurol. 2017 Nov;16(11):898-907. doi: 10.1016/S1474-4422(17)30327-7. Review.

15.

Mutations in the netrin-1 gene cause congenital mirror movements.

Méneret A, Franz EA, Trouillard O, Oliver TC, Zagar Y, Robertson SP, Welniarz Q, Gardner RJM, Gallea C, Srour M, Depienne C, Jasoni CL, Dubacq C, Riant F, Lamy JC, Morel MP, Guérois R, Andreani J, Fouquet C, Doulazmi M, Vidailhet M, Rouleau GA, Brice A, Chédotal A, Dusart I, Roze E, Markie D.

J Clin Invest. 2017 Nov 1;127(11):3923-3936. doi: 10.1172/JCI95442. Epub 2017 Sep 25.

16.

The Tanenbaum Open Science Institute: Leading a Paradigm Shift at the Montreal Neurological Institute.

Poupon V, Seyller A, Rouleau GA.

Neuron. 2017 Aug 30;95(5):1002-1006. doi: 10.1016/j.neuron.2017.07.026.

17.

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
18.

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

Seixas AI, Loureiro JR, Costa C, Ordóñez-Ugalde A, Marcelino H, Oliveira CL, Loureiro JL, Dhingra A, Brandão E, Cruz VT, Timóteo A, Quintáns B, Rouleau GA, Rizzu P, Carracedo Á, Bessa J, Heutink P, Sequeiros J, Sobrido MJ, Coutinho P, Silveira I.

Am J Hum Genet. 2017 Jul 6;101(1):87-103. doi: 10.1016/j.ajhg.2017.06.007.

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.

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.

Rivera B, Di Iorio M, Frankum J, Nadaf J, Fahiminiya S, Arcand SL, Burk DL, Grapton D, Tomiak E, Hastings V, Hamel N, Wagener R, Aleynikova O, Giroux S, Hamdan FF, Dionne-Laporte A, Zogopoulos G, Rousseau F, Berghuis AM, Provencher D, Rouleau GA, Michaud JL, Mes-Masson AM, Majewski J, Bens S, Siebert R, Narod SA, Akbari MR, Lord CJ, Tonin PN, Orthwein A, Foulkes WD.

Cancer Res. 2017 Aug 15;77(16):4517-4529. doi: 10.1158/0008-5472.CAN-17-0190. Epub 2017 Jun 23.

PMID:
28646019
21.

Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia.

Witt SH, Streit F, Jungkunz M, Frank J, Awasthi S, Reinbold CS, Treutlein J, Degenhardt F, Forstner AJ, Heilmann-Heimbach S, Dietl L, Schwarze CE, Schendel D, Strohmaier J, Abdellaoui A, Adolfsson R, Air TM, Akil H, Alda M, Alliey-Rodriguez N, Andreassen OA, Babadjanova G, Bass NJ, Bauer M, Baune BT, Bellivier F, Bergen S, Bethell A, Biernacka JM, Blackwood DHR, Boks MP, Boomsma DI, Børglum AD, Borrmann-Hassenbach M, Brennan P, Budde M, Buttenschøn HN, Byrne EM, Cervantes P, Clarke TK, Craddock N, Cruceanu C, Curtis D, Czerski PM, Dannlowski U, Davis T, de Geus EJC, Di Florio A, Djurovic S, Domenici E, Edenberg HJ, Etain B, Fischer SB, Forty L, Fraser C, Frye MA, Fullerton JM, Gade K, Gershon ES, Giegling I, Gordon SD, Gordon-Smith K, Grabe HJ, Green EK, Greenwood TA, Grigoroiu-Serbanescu M, Guzman-Parra J, Hall LS, Hamshere M, Hauser J, Hautzinger M, Heilbronner U, Herms S, Hitturlingappa S, Hoffmann P, Holmans P, Hottenga JJ, Jamain S, Jones I, Jones LA, Juréus A, Kahn RS, Kammerer-Ciernioch J, Kirov G, Kittel-Schneider S, Kloiber S, Knott SV, Kogevinas M, Landén M, Leber M, Leboyer M, Li QS, Lissowska J, Lucae S, Martin NG, Mayoral-Cleries F, McElroy SL, McIntosh AM, McKay JD, McQuillin A, Medland SE, Middeldorp CM, Milaneschi Y, Mitchell PB, Montgomery GW, Morken G, Mors O, Mühleisen TW, Müller-Myhsok B, Myers RM, Nievergelt CM, Nurnberger JI, O'Donovan MC, Loohuis LMO, Ophoff R, Oruc L, Owen MJ, Paciga SA, Penninx BWJH, Perry A, Pfennig A, Potash JB, Preisig M, Reif A, Rivas F, Rouleau GA, Schofield PR, Schulze TG, Schwarz M, Scott L, Sinnamon GCB, Stahl EA, Strauss J, Turecki G, Van der Auwera S, Vedder H, Vincent JB, Willemsen G, Witt CC, Wray NR, Xi HS; Bipolar Disorders Working Group of the Psychiatric Genomics Consortium; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Tadic A, Dahmen N, Schott BH, Cichon S, Nöthen MM, Ripke S, Mobascher A, Rujescu D, Lieb K, Roepke S, Schmahl C, Bohus M, Rietschel M.

Transl Psychiatry. 2017 Jun 20;7(6):e1155. doi: 10.1038/tp.2017.115.

22.

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
23.

Probing the lithium-response pathway in hiPSCs implicates the phosphoregulatory set-point for a cytoskeletal modulator in bipolar pathogenesis.

Tobe BTD, Crain AM, Winquist AM, Calabrese B, Makihara H, Zhao WN, Lalonde J, Nakamura H, Konopaske G, Sidor M, Pernia CD, Yamashita N, Wada M, Inoue Y, Nakamura F, Sheridan SD, Logan RW, Brandel M, Wu D, Hunsberger J, Dorsett L, Duerr C, Basa RCB, McCarthy MJ, Udeshi ND, Mertins P, Carr SA, Rouleau GA, Mastrangelo L, Li J, Gutierrez GJ, Brill LM, Venizelos N, Chen G, Nye JS, Manji H, Price JH, McClung CA, Akiskal HS, Alda M, Chuang DM, Coyle JT, Liu Y, Teng YD, Ohshima T, Mikoshiba K, Sidman RL, Halpain S, Haggarty SJ, Goshima Y, Snyder EY.

Proc Natl Acad Sci U S A. 2017 May 30;114(22):E4462-E4471. doi: 10.1073/pnas.1700111114. Epub 2017 May 12.

24.

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.

Srour M, Shimokawa N, Hamdan FF, Nassif C, Poulin C, Al Gazali L, Rosenfeld JA, Koibuchi N, Rouleau GA, Al Shamsi A, Michaud JL.

Am J Hum Genet. 2017 May 4;100(5):824-830. doi: 10.1016/j.ajhg.2017.03.009. Epub 2017 Apr 20.

25.

Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.

Gan-Or Z, Ruskey JA, Spiegelman D, Arnulf I, Dauvilliers Y, Högl B, Monaca-Charley C, Postuma RB, Montplaisir JY, Rouleau GA.

Brain. 2017 Jun 1;140(6):e32. doi: 10.1093/brain/awx076. No abstract available.

PMID:
28379291
26.

Rare deleterious variants in GRHL3 are associated with human spina bifida.

Lemay P, De Marco P, Emond A, Spiegelman D, Dionne-Laporte A, Laurent S, Merello E, Accogli A, Rouleau GA, Capra V, Kibar Z.

Hum Mutat. 2017 Jun;38(6):716-724. doi: 10.1002/humu.23214. Epub 2017 Mar 24.

PMID:
28276201
27.

Systematic review of autosomal recessive ataxias and proposal for a classification.

Beaudin M, Klein CJ, Rouleau GA, Dupré N.

Cerebellum Ataxias. 2017 Feb 23;4:3. doi: 10.1186/s40673-017-0061-y. eCollection 2017. Review.

28.

Neurons derived from patients with bipolar disorder divide into intrinsically different sub-populations of neurons, predicting the patients' responsiveness to lithium.

Stern S, Santos R, Marchetto MC, Mendes AP, Rouleau GA, Biesmans S, Wang QW, Yao J, Charnay P, Bang AG, Alda M, Gage FH.

Mol Psychiatry. 2017 Feb 28. doi: 10.1038/mp.2016.260. [Epub ahead of print]

PMID:
28242870
29.

Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosis.

Ohta Y, Soucy G, Phaneuf D, Audet JN, Gros-Louis F, Rouleau GA, Blasco H, Corcia P, Andersen PM, Nordin F, Yamashita T, Abe K, Julien JP.

Hum Mol Genet. 2016 Nov 1;25(21):4771-4786. doi: 10.1093/hmg/ddw304.

30.

Identification of shared risk loci and pathways for bipolar disorder and schizophrenia.

Forstner AJ, Hecker J, Hofmann A, Maaser A, Reinbold CS, Mühleisen TW, Leber M, Strohmaier J, Degenhardt F, Treutlein J, Mattheisen M, Schumacher J, Streit F, 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, Schenk LM, Fischer SB, Sivalingam S, 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, Krasnov V, Chuchalin A, Babadjanova G, Pantelejeva G, Abramova LI, Tiganov AS, Polonikov A, Khusnutdinova E, Alda M, Cruceanu C, Rouleau GA, Turecki G, Laprise C, Rivas F, Mayoral F, Kogevinas M, Grigoroiu-Serbanescu M, Becker T, Schulze TG, Rietschel M, Cichon S, Fier H, Nöthen MM.

PLoS One. 2017 Feb 6;12(2):e0171595. doi: 10.1371/journal.pone.0171595. eCollection 2017.

31.

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
32.

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
33.

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
34.

KCNA2 mutations are rare in hereditary spastic paraplegia.

Gan-Or Z, Yoon G, Suchowersky O, Dupré N, Rouleau GA.

Ann Neurol. 2017 Feb;81(2):325-326. doi: 10.1002/ana.24855. No abstract available.

PMID:
28019661
35.

Clinical Spectrum of Amyotrophic Lateral Sclerosis (ALS).

Grad LI, Rouleau GA, Ravits J, Cashman NR.

Cold Spring Harb Perspect Med. 2017 Aug 1;7(8). pii: a024117. doi: 10.1101/cshperspect.a024117. Review.

PMID:
28003278
36.

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.

37.

Dynamics of microtubules and their associated proteins: Recent insights and clinical implications.

Gan-Or Z, Rouleau GA, Benarroch EE.

Neurology. 2016 Nov 15;87(20):2173. No abstract available.

PMID:
27906661
38.

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
39.

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.

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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.

41.

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
42.

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.

43.

Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson's Disease.

Pal GD, Hall D, Ouyang B, Phelps J, Alcalay R, Pauciulo MW, Nichols WC, Clark L, Mejia-Santana H, Blasucci L, Goetz CG, Comella C, Colcher A, Gan-Or Z, Rouleau GA, Marder K; Consortium on Risk for Early Onset Parkinson's Disease (CORE-PD) Investigators.

Mov Disord Clin Pract. 2016 Sep-Oct;3(5):465-471. Epub 2016 Jan 18.

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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
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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.

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Calpain 1 in neurodegeneration: a therapeutic target?

Gan-Or Z, Rouleau GA.

Lancet Neurol. 2016 Oct;15(11):1118. doi: 10.1016/S1474-4422(16)30175-2. No abstract available.

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Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.

Mahmud AA, Nahid NA, Nassif C, Sayeed MS, Ahmed MU, Parveen M, Khalil MI, Islam MM, Nahar Z, Rypens F, Hamdan FF, Rouleau GA, Hasnat A, Michaud JL.

Clin Genet. 2017 Mar;91(3):470-475. doi: 10.1111/cge.12850. Epub 2016 Sep 16.

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DNA hypomethylation of Synapsin II CpG islands associates with increased gene expression in bipolar disorder and major depression.

Cruceanu C, Kutsarova E, Chen ES, Checknita DR, Nagy C, Lopez JP, Alda M, Rouleau GA, Turecki G.

BMC Psychiatry. 2016 Aug 11;16(1):286. doi: 10.1186/s12888-016-0989-0.

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Identification of genetic variants of LGI1 and RTN4R (NgR1) linked to schizophrenia that are defective in NgR1-LGI1 signaling.

Thomas RA, Ambalavanan A, Rouleau GA, Barker PA.

Mol Genet Genomic Med. 2016 Mar 11;4(4):447-56. doi: 10.1002/mgg3.215. eCollection 2016 Jul.

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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

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

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