Nicolas Dupré, M.D., M.Sc., FRCP(C)

Chercheur régulier
Axe Neurosciences, HEJ
Professeur agrégé
Département de médecine
Faculté de médecine, Université Laval
 
 
 
 
 
 

Le Dr Dupré est neurologue au CHU de Québec-Université Laval, professeur agrégé au Département de médecine de la Faculté de médecine de l’Université Laval et directeur de la Clinique des maladies neuromusculaires et neurogénétiques CHU de Québec — Université Laval.

Le Dr Dupré a parfait sa formation médicale à l’université McGill et effectué sa résidence en neurologie à l’Université Laval. Il a complété sa formation postdoctorale à l’Hôpital et Institut Neurologique de Montréal et à l’Université Harvard. En 2007, il a fait la découverte d’un gène (syne-1) impliqué dans une nouvelle forme d’ataxie héréditaire fréquente dans le monde. Le Dr Dupré a également assumé un rôle important dans la découverte de l’implication du gène TARDBP dans l’étiologie de la sclérose latérale amyotrophique. Il est aujourd’hui impliqué dans plusieurs réseaux provinciaux, nationaux et internationaux contribuant à la découverte de gènes impliqués dans les maladies héréditaires neurologiques. Il a généré plus de 100 publications originales. Les réalisations remarquables du Dr Dupré lui ont valu plusieurs prix, dont le Prix de la Société québécoise des dystrophies musculaires en lien avec la Clinique des maladies neuromusculaires du CHU de Québec, volet SLA, en 2015.

Le volet recherche de la clinique s’est fortement développé depuis les dernières années avec la création du Réseau Parkinson Québec (rpq-qpn.ca) . Celui-ci met en lien les cliniciens avec les chercheurs fondamentalistes du domaine, leur donnant ainsi accès à un registre de près de 1000 patients. En plus de son programme clinique, Dr Dupré est impliqué dans des projets de recherche liant recherche clinique et fondamentale en collaboration avec le Dr François Gros-Louis du Centre de recherche en organogénèse expérimentale de l’Université Laval/LOEX. Un de ces projets vise la découverte de biomarqueurs de la sclérose latérale amyotrophique, au niveau de la peau. Un autre projet important vise le développement d’un modèle de peau reconstruite pour l’étude de la neurofibromatose. Enfin, Dr Dupré collabore activement avec Dr Gros-Louis pour permettre l’identification de mécanismes pathogéniques et à la modélisation in vitro des anévrismes intracrâniens dans les populations inuite et canadienne-française. Le projet vient de faire l’objet d’un financement couvrant une période de 5 ans des IRSC.

Équipe

Françoise Gagné, Employée

Rémy Lamontage, Étudiant 2e cycle

Laurence Martineau, Fellow

Josée Masson-Roy, Fellow

Monica Stumpf, Stagiaire

Publications

Beaudin M, Matilla-Duenas A, Soong BW, Pedroso JL, Barsottini OG, Mitoma H, Tsuji S, Schmahmann JD, Manto M, Rouleau GA, Klein C, Dupre N. The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force. Cerebellum, 18 (6), p. 1098-1125, 2019, ISSN: 1473-4222.

Gamache PL, Salem IH, Roux-Dubois N, Le Bouthillier J, Gan-Or Z, Dupre N. Exposure to Pesticides and Welding Hastens the Age-at-Onset of Parkinson's Disease. Can J Neurol Sci, 46 (6), p. 711-716, 2019, ISSN: 0317-1671.

Leveille E, Estiar MA, Krohn L, Spiegelman D, Dionne-Laporte A, Dupre N, Trempe JF, Rouleau GA, Gan-Or ZSPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia. J Hum Genet, 64 (11), p. 1145-1151, 2019, ISSN: 1434-5161.

Krohn L, Ozturk TN, Vanderperre B, Ouled Amar Bencheikh B, Ruskey JA, Laurent SB, Spiegelman D, Postuma RB, Arnulf I, Hu MTM, Dauvilliers Y, Hogl B, Stefani A, Monaca CC, Plazzi G, Antelmi E, Ferini-Strambi L, Heidbreder A, Rudakou U, Cochen De Cock V, Young P, Wolf P, Oliva P, Zhang XK, Greenbaum L, Liong C, Gagnon JF, Desautels A, Hassin-Baer S, Montplaisir JY, Dupre N, Rouleau GA, Fon EA, Trempe JF, Lamoureux G, Alcalay RN, Gan-Or Z. Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies. Ann Neurol, 2019, ISSN: 0364-5134.

Schmouth JF, Houle G, Ambalavanan A, Leblond CS, Spiegelman D, Laurent SB, Bourassa CV, Panisset M, Chouinard S, Dupre N, Vilarino-Guell C, Rajput A, Dion PA, Rouleau GA. Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases. Mol Neurobiol, 56 (6), p. 4317-4321, 2019, ISSN: 0893-7648.

Rudakou U, Ouled Amar Bencheikh B, Ruskey JA, Krohn L, Laurent SB, Spiegelman D, Liong C, Fahn S, Waters C, Monchi O, Fon EA, Dauvilliers Y, Alcalay RN, Dupre N, Gan-Or Z. Common and rare GCH1 variants are associated with Parkinson's disease. Neurobiol Aging, 73, p. 231.e1-231.e6, 2019, ISSN: 0197-4580.

Lamontagne-Proulx J, St-Amour I, Labib R, Pilon J, Denis HL, Cloutier N, Roux-Dalvai F, Vincent AT, Mason SL, Duchez AC, Droit A, Lacroix S, Dupre N, Langlois M, Chouinard S, Panisset M, Barker RA, Boilard E, Cicchetti F. Portrait of blood-derived extracellular vesicles in patients with Parkinson's disease. Neurobiol Dis, 124, p. 163-175, 2019, ISSN: 0969-9961.

Alcalay RN, Mallett V, Vanderperre B, Tavassoly O, Dauvilliers Y, Wu RYJ, Ruskey JA, Leblond CS, Ambalavanan A, Laurent SB, Spiegelman D, Dionne-Laporte A, Liong C, Levy OA, Fahn S, Waters C, Kuo SH, Chung WK, Ford B, Marder KS, Kang UJ, Hassin-Baer S, Greenbaum L, Trempe JF, Wolf P, Oliva P, Zhang XK, Clark LN, Langlois M, Dion PA, Fon EA, Dupre N, Rouleau GA, Gan-Or ZSMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease. Mov Disord, 34 (4), p. 526-535, 2019, ISSN: 0885-3185.

Giguere-Rancourt A, Plourde M, Doiron M, Langlois M, Dupre N, Simard M. Goal management training ® home-based approach for mild cognitive impairment in Parkinson's disease: a multiple baseline case report. Neurocase, 24 (5-6), p. 276-286, 2018, ISSN: 1355-4794.

Pare B, Lehmann M, Beaudin M, Nordstrom U, Saikali S, Julien JP, Gilthorpe JD, Marklund SL, Cashman NR, Andersen PM, Forsberg K, Dupre N, Gould P, Brannstrom T, Gros-Louis F. Misfolded SOD1 pathology in sporadic Amyotrophic Lateral Sclerosis. Sci Rep, 8 (1), p. 14223, 2018, ISSN: 2045-2322.

Li J, Ruskey JA, Arnulf I, Dauvilliers Y, Hu MTM, Hogl 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, Dupre N, Fon EA, Montplaisir JY, Boeve BF, Postuma RB, Rouleau GA, Ross OA, Gan-Or Z. Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder. Mov Disord, 33 (6), p. 1016-1020, 2018, ISSN: 0885-3185.

Zhou S, Gan-Or Z, Ambalavanan A, Lai D, Xie P, Bourassa CV, Strong S, Ross JP, Dionne-Laporte A, Spiegelman D, Dupre N, Foroud TM, Xiong L, Dion PA, Rouleau GA. Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population. Sci Rep, 8 (1), p. 4356, 2018, ISSN: 2045-2322.

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 ZTOX3 Variants Are Involved in Restless Legs Syndrome and Parkinson's Disease with Opposite Effects. J Mol Neurosci, 64 (3), p. 341-345, 2018, ISSN: 0895-8696.

Doiron M, Langlois M, Dupre N, Simard M. The influence of vascular risk factors on cognitive function in early Parkinson's disease. Int J Geriatr Psychiatry, 33 (2), p. 288-297, 2018, ISSN: 0885-6230.

Gauquelin L, Tetreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupre N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard GPOLR3A variants in hereditary spastic paraplegia and ataxia. Brain, 141 (1), p. e1, 2018, ISSN: 0006-8950.

Ross JP, Mohtashami S, Leveille E, Johnson AM, Xiong L, Dion PA, Fon E, Dauvilliers Y, Dupre N, Rouleau GA, Gan-Or Z. Association study of essential tremor genetic loci in Parkinson's disease. Neurobiol Aging, 66, p. 178.e13-178.e15, 2018, ISSN: 0197-4580.

Nadeau D, Giroux I, Simard M, Jacques C, Dupré N. Gambling habits of people with Parkinson's disease: an exploratory studyJ Gambl Issues, 37, p. 149-171, 2018.

Picher-Martel V, Dupre N. Current and Promising Therapies in Autosomal Recessive Ataxias. CNS Neurol Disord Drug Targets, 17 (3), p. 161-171, 2018, ISSN: 1871-5273.

Roy MA, Doiron M, Talon-Croteau J, Dupre N, Simard M. Effects of Antiparkinson Medication on Cognition in Parkinson's Disease: A Systematic Review. Can J Neurol Sci, 45 (4), p. 375-404, 2018, ISSN: 0317-1671.

Bereznyakova O, Dupre N. Spastic ataxias. Handb Clin Neurol, 155, p. 191-203, 2018, ISSN: 0072-9752.

Ruskey JA, Zhou S, Santiago R, Franche LA, Alam A, Ronciere L, Spiegelman D, Fon EA, Trempe JF, Kalia LV, Postuma RB, Dupre N, Rivard GE, Assouline S, Amato D, Gan-Or Z. The GBA p. Trp378Gly mutation is a probable French-Canadian founder mutation causing Gaucher disease and synucleinopathies. Clin Genet, 94 (3-4), p. 339-345, 2018, ISSN: 0009-9163.

Ouled Amar Bencheikh B, Leveille E, Ruskey JA, Spiegelman D, Liong C, Fon EA, Rouleau GA, Dauvilliers Y, Dupre N, Alcalay RN, Gan-Or Z. Sequencing of the GBA coactivator, Saposin C, in Parkinson disease. Neurobiol Aging, 72, p. 187.e1-187.e3, 2018, ISSN: 0197-4580.

Chrestian N, Dupre 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. Clinical and genetic study of hereditary spastic paraplegia in Canada. Neurol Genet, 3 (1), p. e122, 2017, ISSN: 2376-7839.

Doiron M, Dupre N, Langlois M, Provencher P, Simard M. Smoking history is associated to cognitive impairment in Parkinson's disease. Aging Ment Health, 21 (3), p. 322-326, 2017, ISSN: 1360-7863.

Gan-Or Z, Montplaisir JY, Ross JP, Poirier J, Warby SC, Arnulf I, Strong S, Dauvilliers Y, Leblond CS, Hu MT, Hogl 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, Dupre N, Postuma RB, Rouleau GA. The dementia-associated APOE ε4 allele is not associated with rapid eye movement sleep behavior disorder. Neurobiol Aging, 49, p. 218.e13-218.e15, 2017, ISSN: 0197-4580.

Gan-Or Z, Yoon G, Suchowersky O, Dupre N, Rouleau GAKCNA2 mutations are rare in hereditary spastic paraplegia. Ann Neurol, 81 (2), p. 325-326, 2017, ISSN: 0364-5134.

Houle G, Schmouth JF, Leblond CS, Ambalavanan A, Spiegelman D, Laurent SB, Bourassa CV, Panisset M, Chouinard S, Dupre N, Vilarino-Guell C, Rajput A, Dion PA, Rouleau GA. Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population. Mov Disord, 32 (2), p. 292-295, 2017, ISSN: 0885-3185.

Ross JP, Dupre N, Dauvilliers Y, Strong S, Dionne-Laporte A, Dion PA, Rouleau GA, Gan-Or ZRIC3 variants are not associated with Parkinson's disease in French-Canadians and French. Neurobiol Aging, 53, p. 194.e9-194.e11, 2017, ISSN: 0197-4580.

Beaudin M, Klein CJ, Rouleau GA, Dupre N. Systematic review of autosomal recessive ataxias and proposal for a classification. Cerebellum Ataxias, 4, p. 3, 2017, ISSN: 2053-8871.

Zhou S, Ambalavanan A, Rochefort D, Xie P, Bourassa CV, Hince P, Dionne-Laporte A, Spiegelman D, Gan-Or Z, Mirarchi C, Zaharieva V, Dupre N, Kobayashi H, Hitomi T, Harada K, Koizumi A, Xiong L, Dion PA, Rouleau GARNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population. Am J Hum Genet, 99 (5), p. 1072-1085, 2016, ISSN: 0002-9297.

Abrahao A, Downar J, Pinto H, Dupre N, Izenberg A, Kingston W, Korngut L, O'Connell C, Petrescu N, Shoesmith C, Tandon A, Vargas-Santos AB, Zinman L. Physician-assisted death: A Canada-wide survey of ALS health care providers. Neurology, 87 (11), p. 1152-60, 2016, ISSN: 0028-3878.

Dupre N, Rouleau G. The Puzzle of Huntington Disease Phenocopies. JAMA Neurol, 73 (9), p. 1056-8, 2016, ISSN: 2168-6149.

Picher-Martel V, Valdmanis PN, Gould PV, Julien JP, Dupre N. From animal models to human disease: a genetic approach for personalized medicine in ALS. Acta Neuropathol Commun, 4 (1), p. 70, 2016, ISSN: 2051-5960.

Tarnopolsky M, Katzberg H, Petrof BJ, Sirrs S, Sarnat HB, Myers K, Dupre N, Dodig D, Genge A, Venance SL, Korngut L, Raiman J, Khan A. Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel. Can J Neurol Sci, 43 (4), p. 472-85, 2016, ISSN: 0317-1671.

Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Veriepe 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, Dupre N, Suchowersky O, Bolduc FV, Parker JA, Dion PA, Drapeau P, Rouleau GA, Bencheikh BO. Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. Am J Hum Genet, 98 (6), p. 1271, 2016, ISSN: 0002-9297.

Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Veriepe J, Androschuck 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, Dupre N, Suchowersky O, Bolduc FV, Parker JA, Dion PA, Drapeau P, Rouleau GA, Bencheikh BO. Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. Am J Hum Genet, 98 (5), p. 1038-1046, 2016, ISSN: 0002-9297.

Leblond CS, Gan-Or Z, Spiegelman D, Laurent SB, Szuto A, Hodgkinson A, Dionne-Laporte A, Provencher P, de Carvalho M, Orru S, Brunet D, Bouchard JP, Awadalla P, Dupre N, Dion PA, Rouleau GA. Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging, 37, p. 209.e17-209.e21, 2016, ISSN: 0197-4580.

Pare B, Deschenes LT, Pouliot R, Dupre N, Gros-Louis F. An Optimized Approach to Recover Secreted Proteins from Fibroblast Conditioned-Media for Secretomic Analysis. Front Cell Neurosci, 10, p. 70, 2016.

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, Hogl B, Frauscher B, Monaca C, Desautels A, Gagnon JF, Postuma RB, Dion PA, Dauvilliers Y, Dupre N, Alcalay RN, Rouleau GA. The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder. Neurobiol Aging, 43, p. 180.e7-180.e13, 2016, ISSN: 0197-4580.

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. Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease. Neurobiol Aging, 45, p. 212.e13-212.e17, 2016, ISSN: 0197-4580.

Muller 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, Vilarino-Guell C, Postuma RB, Bernard G, Ladwig KH, Dupre 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, Kuhlenbaumer G, Rouleau GA. Genome-wide association study in essential tremor identifies three new loci. Brain, 139 (Pt 12), p. 3163-3169, 2016, ISSN: 0006-8950.

Virgili J, Faucher-Genest A, Aubry-Lafontaine E, Dupré N, Calon F. Le tremblement essentiel: où en sommes-nous?Pharmactuel, 49 (3), p. 164-175, 2016, ISSN: 0834-065X.

De Serres G, Rouleau I, Skowronski DM, Ouakki M, Lacroix K, Bedard F, Toth E, Landry M, Dupre N. Paresthesia and sensory disturbances associated with 2009 pandemic vaccine receipt: Clinical features and risk factors. Vaccine, 33 (36), p. 4464-71, 2015, ISSN: 0264-410X.

Gan-Or Z, Alcalay RN, Bar-Shira A, Leblond CS, Postuma RB, Ben-Shachar S, Waters C, Johnson A, Levy O, Mirelman A, Gana-Weisz M, Dupre N, Montplaisir J, Giladi N, Fahn S, Xiong L, Dion PA, Orr-Urtreger A, Rouleau GA. Genetic markers of Restless Legs Syndrome in Parkinson disease. Parkinsonism Relat Disord, 21 (6), p. 582-5, 2015, ISSN: 1353-8020.

Wright FA, Lu JP, Sliter DA, Dupre N, Rouleau GA, Wojcikiewicz RJ. A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling. J Biol Chem, 290 (22), p. 13948-57, 2015, ISSN: 0021-9258.

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, Andre-Guimont C, Camu W, Bouchard JP, Dupre N, Rouleau GA, Wente SR, Dion PA. Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. Hum Mol Genet, 24 (5), p. 1363-73, 2015, ISSN: 0964-6906.

Pare B, Touzel-Deschenes L, Lamontagne R, Lamarre MS, Scott FD, Khuong HT, Dion PA, Bouchard JP, Gould P, Rouleau GA, Dupre N, Berthod F, Gros-Louis F. Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients. Acta Neuropathol Commun, 3, p. 5, 2015, ISSN: 2051-5960.

Martineau L, Noreau A, Dupre N. Therapies for ataxias. Curr Treat Options Neurol, 16 (7), p. 300, 2014, ISSN: 1092-8480.

Noreau A, Beauchemin P, Dionne-Laporte A, FORGE Canada, Dion PA, Rouleau GA, Dupre N. Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum. Cerebellum Ataxias, 1, p. 8, 2014, ISSN: 2053-8871.

Noreau A, Bourassa CV, Szuto A, Levert A, Dobrzeniecka S, Gauthier J, Forlani S, Durr A, Anheim M, Stevanin G, Brice A, Bouchard JP, Dion PA, Dupre N, Rouleau GASYNE1 mutations in autosomal recessive cerebellar ataxia. JAMA Neurol, 70 (10), p. 1296-31, 2013, ISSN: 2168-6149.

Dupre N, Korngut L. A real-world glimpse into the epidemiology of ALS in Canada. Can J Neurol Sci, 40 (5), p. 625, 2013, ISSN: 0317-1671.

Korngut L, Campbell C, Johnston M, Benstead T, Genge A, Mackenzie A, McCormick A, Biggar D, Bourque P, Briemberg H, O'Connell C, Dojeiji S, Dooley J, Grant I, Hogan G, Johnston W, Kalra S, Katzberg HD, Mah JK, McAdam L, McMillan HJ, Melanson M, Selby K, Shoesmith C, Smith G, Venance SL, Wee J, CNDR Investigator NetworkThe CNDR: collaborating to translate new therapies for Canadians. Can J Neurol Sci, 40 (5), p. 698-704, 2013, ISSN: 0317-1671.

Savard M, Dupre N, Turgeon AF, Desbiens R, Langevin S, Brunet D. Propofol-related infusion syndrome heralding a mitochondrial disease: case report. Neurology, 81 (8), p. 770-1, 2013, ISSN: 0028-3878.

Kabashi E, El Oussini H, Bercier V, Gros-Louis F, Valdmanis PN, McDearmid J, Mejier IA, Dion PA, Dupre N, Hollinger D, Sinniger J, Dirrig-Grosch S, Camu W, Meininger V, Loeffler JP, Rene F, Drapeau P, Rouleau GA, Dupuis L. Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis. Hum Mol Genet, 22 (12), p. 2350-60, 2013, ISSN: 0964-6906.

Daoud H, Noreau A, Rochefort D, Paquin-Lanthier G, Gauthier MT, Provencher P, Pourcher E, Dupre N, Chouinard S, Jodoin N, Soland V, Fon EA, Dion PA, Rouleau GA. Investigation of C9orf72 repeat expansions in Parkinson's disease. Neurobiol Aging, 34 (6), p. 1710.e7-9, 2013, ISSN: 0197-4580.

Tran TP, Leduc K, Savard M, Dupre N, Rivest D, Nguyen DK. Acute porphyria presenting as epilepsia partialis continua. Case Rep Neurol, 5 (2), p. 116-24, 2013, ISSN: 1662-680X.

Daoud H, Dobrzeniecka S, Camu W, Meininger V, Dupre N, Dion PA, Rouleau GA. Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients. Neurobiol Aging, 34 (4), p. 1311.e1-2, 2013, ISSN: 0197-4580.

Noreau A, Dupre N, Bouchard JP, Dion P, Rouleau G. Autosomal recessive cerebellar ataxias (ARC. As)Chapitre de livreM, Manto; D, Gruol; J, Schmahmann; N, Koibuchi; F, Rossi (Ed.): Handbook of Cerebellum and Cerebellar Disorders, p. 2177-2191, New York, NY, Springer, 2013, ISBN: ISBN 978-94-007-1332-1 (print) / 978-94-007-1333-8 (eBook).

Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Lariviere R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupre N, Prevost C, Bouchard JP, Mathieu J, Brais B. Diversity of ARSACS mutations in French-Canadians. Can J Neurol Sci, 40 (1), p. 61-6, 2013, ISSN: 0317-1671.

Korngut L, Genge A, Johnston M, Benstead T, Bourque P, Briemberg H, Casey A, D'Amour M, Dupre N, Figlewicz D, Hader W, Johnston W, Kalra S, Melanson M, O'Connell C, Rouleau G, Shoesmith C, Wee J, Zinman L. Establishing a Canadian registry of patients with amyotrophic lateral sclerosis. Can J Neurol Sci, 40 (1), p. 29-35, 2013, ISSN: 0317-1671.

Daoud H, Suhail H, Szuto A, Camu W, Salachas F, Meininger V, Bouchard JP, Dupre N, Dion PA, Rouleau GAUBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis. Neurobiol Aging, 33 (9), p. 2230.e1-2230.e5, 2012, ISSN: 0197-4580.

Dupre N, Verreault S. Stroke genetics and the Chinese population. Can J Neurol Sci, 39 (5), p. 568-9, 2012, ISSN: 0317-1671.

Merner ND, Girard SL, Catoire H, Bourassa CV, Belzil VV, Riviere JB, Hince P, Levert A, Dionne-Laporte A, Spiegelman D, Noreau A, Diab S, Szuto A, Fournier H, Raelson J, Belouchi M, Panisset M, Cossette P, Dupre N, Bernard G, Chouinard S, Dion PA, Rouleau GA. Exome sequencing identifies FUS mutations as a cause of essential tremor. Am J Hum Genet, 91 (2), p. 313-9, 2012, ISSN: 0002-9297.

Belzil VV, Andre-Guimont C, Atallah MR, Daoud H, Dupre N, Bouchard JP, Camu W, Dion PA, Rouleau GA. Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis. Neurobiol Aging, 33 (8), p. 1845.e7-9, 2012, ISSN: 0197-4580.

Matteau E, Dupre N, Langlois M, Provencher P, Simard M. Clinical validity of the Mattis Dementia Rating Scale-2 in Parkinson disease with MCI and dementia. J Geriatr Psychiatry Neurol, 25 (2), p. 100-6, 2012, ISSN: 0891-9887.

Lourenco CM, Dupre N, Riviere JB, Rouleau GA, Marques VD, Genari AB, Santos AC, Barreira AA, Marques W JrExpanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome. J Peripher Nerv Syst, 17 (1), p. 123-7, 2012, ISSN: 1085-9489.

Noreau A, Dion PA, Szuto A, Levert A, Thibodeau P, Brais B, Dupre N, Rioux MF, Rouleau GACYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects. Can J Neurol Sci, 39 (1), p. 91-4, 2012, ISSN: 0317-1671.

Trudelle AM, Dupre N. Les études pan-génomiques et la sclérose latérale amyotrophique dans le dossier "Les maladies neurologiques à travers les études pan-génomiques"La lettre des neurosciences, 42, p. 17-19, 2012, ISSN: 1162-3748.

Noreau A, Rouleau G, Dupre N. Clinical and genetic aspects of recessive ataxias. Chapitre de livreAtaxia : Causes, Symptoms and Treatment, p. 109-122, Hauppauge, NY, Nova Science Publishers, 2012.

MacLellan MJ, Dupre N, McFadyen BJ. Increased obstacle clearance in people with ARCA-1 results in part from voluntary coordination changes between the thigh and shank segments. Cerebellum, 10 (4), p. 732-44, 2011, ISSN: 1473-4222.

Swarup V, Phaneuf D, Dupre N, Petri S, Strong M, Kriz J, Julien JP. Deregulation of TDP-43 in amyotrophic lateral sclerosis triggers nuclear factor κB-mediated pathogenic pathways. J Exp Med, 208 (12), p. 2429-47, 2011, ISSN: 0022-1007.

Noreau A, Riviere JB, Diab S, Dion PA, Panisset M, Soland V, Jodoin N, Langlois M, Chouinard S, Dupre N, Rouleau GA. Glucocerebrosidase mutations in a French-Canadian Parkinson's disease cohort. Can J Neurol Sci, 38 (5), p. 772-3, 2011, ISSN: 0317-1671.

Matteau E, Dupre N, Langlois M, Jean L, Thivierge S, Provencher P, Simard M. Mattis Dementia Rating Scale 2: screening for MCI and dementia. Am J Alzheimers Dis Other Demen, 26 (5), p. 389-98, 2011, ISSN: 1533-3175.

Tomiyasu A, Nakamura M, Ichiba M, Ueno S, Saiki S, Morimoto M, Kobal J, Kageyama Y, Inui T, Wakabayashi K, Yamada T, Kanemori Y, Jung HH, Tanaka H, Orimo S, Afawi Z, Blatt I, Aasly J, Ujike H, Babovic-Vuksanovic D, Josephs KA, Tohge R, Rodrigues GR, Dupre N, Yamada H, Yokochi F, Kotschet K, Takei T, Rudzinska M, Szczudlik A, Penco S, Fujiwara M, Tojo K, Sano A. Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis. Am J Med Genet B Neuropsychiatr Genet, 156B (5), p. 620-31, 2011, ISSN: 1552-4841.

Daoud H, Belzil V, Martins S, Sabbagh M, Provencher P, Lacomblez L, Meininger V, Camu W, Dupre N, Dion PA, Rouleau GA. Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. Arch Neurol, 68 (6), p. 739-42, 2011, ISSN: 0003-9942.

Dupre N. Genetic susceptibility of Alzheimer's disease in East Asia. Can J Neurol Sci, 38 (3), p. 394-5, 2011, ISSN: 0317-1671.

Belzil VV, Daoud H, Desjarlais A, Bouchard JP, Dupre N, Camu W, Dion PA, Rouleau GA. Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis. Neurobiol Aging, 32 (3), p. 555.e13-4, 2011, ISSN: 0197-4580.

Belzil VV, St-Onge J, Daoud H, Desjarlais A, Bouchard JP, Dupre N, Camu W, Dion PA, Rouleau GA. Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis. J Hum Genet, 56 (3), p. 247-9, 2011, ISSN: 1434-5161.

Belzil VV, Daoud H, St-Onge J, Desjarlais A, Bouchard JP, Dupre N, Lacomblez L, Salachas F, Pradat PF, Meininger V, Camu W, Dion PA, Rouleau GA. Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis. Amyotroph Lateral Scler, 12 (2), p. 113-7, 2011, ISSN: 1748-2968.

Valdmanis PN, Dupre N, Lachance M, Stochmanski SJ, Belzil VV, Dion PA, Thiffault I, Brais B, Weston L, Saint-Amant L, Samuels ME, Rouleau GA. A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. Brain, 134 (Pt 2), p. 602-7, 2011, ISSN: 0006-8950.

Bourassa CV, Riviere JB, Dion PA, Bernard G, Diab S, Panisset M, Chouinard S, Dupre N, Fournier H, Raelson J, Belouchi M, Rouleau GALINGO1 variants in the French-Canadian population. P. LoS ONE, 6 (1), p. e16254, 2011.

Laforce R Jr, Buteau JP, Bouchard JP, Rouleau GA, Bouchard RW, Dupre N. Cognitive impairment in ARCA-1, a newly discovered pure cerebellar ataxia syndrome. Cerebellum, 9 (3), p. 443-53, 2010, ISSN: 1473-4222.

Dupre N, Laforce R JrFamilial Alzheimer disease in Canada. Can J Neurol Sci, 37 (3), p. 302-3, 2010, ISSN: 0317-1671.

Gros-Louis F, Andersen PM, Dupre N, Urushitani M, Dion P, Souchon F, D'Amour M, Camu W, Meininger V, Bouchard JP, Rouleau GA, Julien JP. Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A, 106 (51), p. 21777-82, 2009, ISSN: 0027-8424.

Laforce R Jr, Valdmanis PN, Dupre N, Rouleau GA, Turgeon AF, Savard M. A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy. Clin Neurol Neurosurg, 111 (8), p. 691-4, 2009, ISSN: 0303-8467.

Bouchard M, Verreault S, Gariepy JL, Dupre N. Intra-arterial milrinone for reversible cerebral vasoconstriction syndrome. Headache, 49 (1), p. 142-5, 2009, ISSN: 0017-8748.

Meijer IA, Simoes-Lopes AA, Laurent S, Katz T, St-Onge J, Verlaan DJ, Dupre N, Thibault M, Mathurin J, Bouchard JP, Rouleau GA. A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy. Arch Neurol, 65 (11), p. 1496-501, 2008, ISSN: 0003-9942.

Dupre N, Riviere JB, Myers RH, Provencher P, Pourcher E, Emond F, Rouleau GALRRK2 is not a significant cause of Parkinson's disease in French-Canadians. Can J Neurol Sci, 34 (3), p. 333-5, 2007, ISSN: 0317-1671.

Dupre N, Gros-Louis F, Chrestian N, Verreault S, Brunet D, de Verteuil D, Brais B, Bouchard JP, Rouleau GA. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.Ann Neurol, 62 (1), p. 93-8, 2007, ISSN: 0364-5134.

Dupre N, Bouchard JP, Gros-Louis F, Rouleau GA[Mutations in SYNE-1 lead to a newly discovered form of autosomal recessive cerebellar ataxia].Med Sci (Paris), 23 (3), p. 261-2, 2007, ISSN: 0767-0974.

Gros-Louis F, Dupre N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet, 39 (1), p. 80-5, 2007, ISSN: 1061-4036.

Larue S, Verreault S, Gould P, Coulthart MB, Bergeron C, Dupre N. A case of familial Creutzfeldt-Jakob disease presenting with dry cough. Can J Neurol Sci, 33 (2), p. 243-5, 2006, ISSN: 0317-1671.

Dionne A, Brunet D, McCampbell A, Dupre N. Adrenomyeloneuropathy: report of a new mutation in a French Canadian female. Can J Neurol Sci, 32 (2), p. 261-3, 2005, ISSN: 0317-1671.

Valdmanis PN, Simoes Lopes AA, Gros-Louis F, Stewart JD, Rouleau GA, Dupre N. A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1.J Med Genet, 41 (8), p. 634-9, 2004, ISSN: 0022-2593.

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