Nicolas Dupre

Summary

Affiliation: Quebec City
Country: Canada

Publications

  1. ncbi Autosomal dominant primary lateral sclerosis
    Nicolas Dupre
    Center for the Study of Brain Diseases, Universite de Montreal CHUM Research Center, Notre Dame Hospital, Montreal, QC, Canada
    Neurology 68:1156-7. 2007
  2. ncbi Clinical and genetic study of autosomal recessive cerebellar ataxia type 1
    Nicolas Dupre
    Faculty of Medicine, Laval University, Department of Neurological Sciences, Centre Hospitalier Affilié Universitaire de Québec Enfant Jésus, 18th Street, Quebec City, Quebec, Canada
    Ann Neurol 62:93-8. 2007
  3. doi Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis
    Veronique V Belzil
    Center of Excellence in Neuromics of Université de Montréal, CHUM Research Center, Montreal, Quebec, Canada
    J Hum Genet 56:247-9. 2011
  4. doi Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis
    Veronique V Belzil
    Centre of Excellence in Neuromics of Université de Montréal, CHUM Research Center, Montreal, Quebec, Canada
    Neurobiol Aging 32:555.e13-4. 2011
  5. ncbi Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia
    Francois Gros-Louis
    Centre for the Study of Brain Diseases, Universite de Montreal, Montreal, Quebec, H2L 4M1, Canada
    Nat Genet 39:80-5. 2007
  6. doi UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis
    Hussein Daoud
    Centre of Excellence in Neuroscience of Université de Montréal CENUM, CHUM Research Center and the Department of Medicine, Montreal, Quebec, Canada
    Neurobiol Aging 33:2230.e1-2230.e5. 2012
  7. doi Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians
    Nicolas Dupre
    Department of Neurological Sciences, CHAUQ Enfant Jésus, Faculty of Medicine, Laval University, Quebec City, QC, Canada
    Neuromuscul Disord 19:330-4. 2009
  8. doi Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients
    Hussein Daoud
    Centre of Excellence in Neuroscience of Université de Montréal, CHUM Research Center and the Department of Medicine, Universite de Montreal, Montreal, Quebec, Canada
    Neurobiol Aging 34:1311.e1-2. 2013
  9. doi A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy
    Inge A Meijer
    Centre of Excellence in Neuromics, Centre Hospitalier de l Université de Montreal and Ste Justine Hospital, Montreal, Canada
    Arch Neurol 65:1496-501. 2008
  10. ncbi A novel mutation in a large French-Canadian family with LGMD1B
    Nicolas Chrestian
    Faculty of Medicine, Laval University, Quebec City, Canada
    Can J Neurol Sci 35:331-4. 2008

Collaborators

Detail Information

Publications34

  1. ncbi Autosomal dominant primary lateral sclerosis
    Nicolas Dupre
    Center for the Study of Brain Diseases, Universite de Montreal CHUM Research Center, Notre Dame Hospital, Montreal, QC, Canada
    Neurology 68:1156-7. 2007
  2. ncbi Clinical and genetic study of autosomal recessive cerebellar ataxia type 1
    Nicolas Dupre
    Faculty of Medicine, Laval University, Department of Neurological Sciences, Centre Hospitalier Affilié Universitaire de Québec Enfant Jésus, 18th Street, Quebec City, Quebec, Canada
    Ann Neurol 62:93-8. 2007
    ..Define the phenotype and genotype of a cluster of families with a relatively pure cerebellar ataxia referred to as autosomal recessive cerebellar ataxia type 1 (ARCA-1)...
  3. doi Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis
    Veronique V Belzil
    Center of Excellence in Neuromics of Université de Montréal, CHUM Research Center, Montreal, Quebec, Canada
    J Hum Genet 56:247-9. 2011
    ..Thus far most FUS mutations are missenses, and our findings, combined with those of others, confirm the importance of the C-terminal portion of the protein, adding additional support for FUS mutations having a critical role in ALS...
  4. doi Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis
    Veronique V Belzil
    Centre of Excellence in Neuromics of Université de Montréal, CHUM Research Center, Montreal, Quebec, Canada
    Neurobiol Aging 32:555.e13-4. 2011
    ..Two variants were newly identified in 2 individual FALS cases. Unique variations in the OPTN gene are rare in FALS cases and were not identified in any SALS patients, all of European descent...
  5. ncbi Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia
    Francois Gros-Louis
    Centre for the Study of Brain Diseases, Universite de Montreal, Montreal, Quebec, H2L 4M1, Canada
    Nat Genet 39:80-5. 2007
    ....
  6. doi UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis
    Hussein Daoud
    Centre of Excellence in Neuroscience of Université de Montréal CENUM, CHUM Research Center and the Department of Medicine, Montreal, Quebec, Canada
    Neurobiol Aging 33:2230.e1-2230.e5. 2012
    ..Our findings further support a causative role of the UBQLN2 gene in the pathogenesis of ALS and suggest that UBQLN2 mutations are rare in the French and French-Canadian population...
  7. doi Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians
    Nicolas Dupre
    Department of Neurological Sciences, CHAUQ Enfant Jésus, Faculty of Medicine, Laval University, Quebec City, QC, Canada
    Neuromuscul Disord 19:330-4. 2009
    ..The French-Canadian population shows wide phenotypic and genotypic heterogeneity in non-dystrophic myotonias...
  8. doi Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients
    Hussein Daoud
    Centre of Excellence in Neuroscience of Université de Montréal, CHUM Research Center and the Department of Medicine, Universite de Montreal, Montreal, Quebec, Canada
    Neurobiol Aging 34:1311.e1-2. 2013
    ..No mutations were identified in our cohort suggesting that PFN1 gene mutations are a very rare cause of familial ALS among patients with predominantly European ancestry...
  9. doi A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy
    Inge A Meijer
    Centre of Excellence in Neuromics, Centre Hospitalier de l Université de Montreal and Ste Justine Hospital, Montreal, Canada
    Arch Neurol 65:1496-501. 2008
    ..To identify the underlying locus and disease-causing mutation for adult-onset autosomal dominant leukodystrophy (ADLD)...
  10. ncbi A novel mutation in a large French-Canadian family with LGMD1B
    Nicolas Chrestian
    Faculty of Medicine, Laval University, Quebec City, Canada
    Can J Neurol Sci 35:331-4. 2008
    ....
  11. doi Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis
    Hussein Daoud
    Centre for Excellence in Neuromics, CHUM Research Center, Universite de Montreal, 2099 Alexandre De Seve St, Montreal, QC H2L 2W5, Canada
    Arch Neurol 68:739-42. 2011
    ..Large (CAG)(n) alleles of the ATXN2 gene (27-33 repeats) were recently reported to be associated with an increased risk of ALS...
  12. doi Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis
    Veronique V Belzil
    Centre of Excellence in Neurosciences of Université de Montréal, CHUM Research Center, Montreal, QC H2L 4M1, Canada
    Neurobiol Aging 33:1845.e7-9. 2012
    ....
  13. ncbi LRRK2 is not a significant cause of Parkinson's disease in French-Canadians
    Nicolas Dupre
    Faculty of Medicine, Laval University, Department of Neurological Sciences, CHAUQ Enfant Jésus, Quebec City, Quebec, Canada
    Can J Neurol Sci 34:333-5. 2007
    ..Objective: Demonstrate if mutations in the LRRK2 gene are a significant cause of Parkinson's disease (PD) in the French-Canadian founder population...
  14. ncbi A case of familial Creutzfeldt-Jakob disease presenting with dry cough
    Sandrine Larue
    Department of Neurological Sciences, CHAUQ Enfant Jésus, Laval University, Quebec City, QC, Canada
    Can J Neurol Sci 33:243-5. 2006
    ..The 200k mutation within the gene encoding PrP, located on the short arm of chromosome 20, accounts for more than 70% of families with CJD worldwide...
  15. ncbi Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population
    Nicolas Dupre
    Department of Neurological Sciences, CHAUQ Enfant Jésus, Quebec City, QC, Canada
    Can J Neurol Sci 33:149-57. 2006
    ..We predict that the regional populations of Canada will allow the identification of new rare forms of hereditary ataxias, spastic parapareses and neuropathies, and contribute to the unravelling of the genetic basis of these entities...
  16. ncbi Myotonia congenita--a cause of muscle weakness and stiffness
    Nicolas Chrestian
    University of Laval, QC, Canada
    Nat Clin Pract Neurol 2:393-9; quiz following 399. 2006
    ..A previous needle electromyogram had confirmed the presence of myotonia, but a muscle biopsy had revealed no evidence of dystrophy...
  17. doi Clinical validity of the Mattis Dementia Rating Scale-2 in Parkinson disease with MCI and dementia
    Evelyne Matteau
    Ecole de Psychologie, Université Laval and Centre de recherche Université Laval Robert Giffard, Quebec City, QC, Canada
    J Geriatr Psychiatry Neurol 25:100-6. 2012
    ..These findings suggest that MDRS-2 is a useful tool to identify dementia but that there might be a ceiling effect in the MDRS-2 cutoff score to diagnose MCI in PD...
  18. doi Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis
    Veronique V Belzil
    Centre of Excellence in Neuromics of Université de Montréal, Quebec, Canada
    Amyotroph Lateral Scler 12:113-7. 2011
    ..These findings will help evaluate the proportion of FUS variations in the SALS population, and to better understand its contributing role to ALS pathology...
  19. doi Investigation of C9orf72 repeat expansions in Parkinson's disease
    Hussein Daoud
    Centre of Excellence in Neuroscience of Université de Montréal CENUM, CHUM Research Center and the Department of Medicine, Montreal, Quebec, Canada
    Neurobiol Aging 34:1710.e7-9. 2013
    ..No pathologic expansion was found in our cohort of patients suggesting that C9orf72 repeat expansions do not play a major role in the pathogenesis of Parkinson's disease...
  20. pmc Exome sequencing identifies FUS mutations as a cause of essential tremor
    Nancy D Merner
    Centre of Excellence in Neurosciences, Centre Hospitalier de L Universite de Montreal Research Center, Universite de Montreal, Montreal, QC H2L 2W5, Canada
    Am J Hum Genet 91:313-9. 2012
    ....
  21. ncbi SPG4 founder effect in French Canadians with hereditary spastic paraplegia
    Inge A Meijer
    Center for the Study of Brain Diseases, CHUM Research Center, Notre Dame Hospital, Montreal, QC, Canada
    Can J Neurol Sci 34:211-4. 2007
    ..The aim of this study is to estimate the frequency of the c.G1801A mutation in the French Canadian (FC) population and to determine whether this mutation originates from a common ancestor...
  22. ncbi Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p
    Paul N Valdmanis
    Center for the Study of Brain Diseases, University of Montreal, Centre Hospitalier de L Universite de Montreal Research Center, Notre Dame Hospital, 1560 Sherbrooke Street E, Montreal, Quebec, Canada
    Arch Neurol 64:240-5. 2007
    ..A locus was established between the markers D9S2154 and D9S1791 by comparing haplotypes between these families...
  23. pmc LINGO1 variants in the French-Canadian population
    Cynthia V Bourassa
    CHUM Research Center and the Department of Medicine, Universite de Montreal, Montreal, Quebec, Canada
    PLoS ONE 6:e16254. 2011
    ..Our genotyping results lead us to conclude that no association exists between the key variant rs9652490 and ET (P(corr) = 1.00)...
  24. doi TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
    Edor Kabashi
    Center of Excellence in Neuromics, Centre Hospitalier de l Universite de Montreal, and Department of Medicine, University of Montreal, Montreal, Quebec H2L4MI, Canada
    Nat Genet 40:572-4. 2008
    ..These findings further corroborate that TDP-43 is involved in ALS pathogenesis...
  25. ncbi Characterization of a novel SPG3A deletion in a French-Canadian family
    Inge A Meijer
    Center for the Study of Brain Diseases, Centre Hospitalier de l Université de Montréal Research Center Notre Dame Hospital, University of Montreal, Quebec, Canada
    Ann Neurol 61:599-603. 2007
    ..Interestingly, immunoblot analysis of lymphoblasts from affected patients demonstrated a significant reduction in atlastin protein levels, supporting a loss-of-function disease mechanism...
  26. doi A locus for primary lateral sclerosis on chromosome 4ptel-4p16.1
    Paul N Valdmanis
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada
    Arch Neurol 65:383-6. 2008
    ..Primary lateral sclerosis (PLS) is an adult-onset upper motor neuron disease resulting in spinal and bulbar spasticity. A family with 8 individuals diagnosed with PLS was previously reported...
  27. ncbi Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster
    Isabelle Gosselin
    Laboratoire de neurogénétique de la motricité, Centre d excellence en neuromique de l Université de Montréal, Centre de recherche du Centre Hospitalier de l Universite de Montreal, Hopital Notre Dame CHUM, Montreal, Que, Canada
    Neuromuscul Disord 18:483-92. 2008
    ....
  28. pmc Propofol-related infusion syndrome heralding a mitochondrial disease: Case report
    Martin Savard
    From the Department of Neurological Sciences M S, N D, R D, D B and the Division of Critical Care Medicine, Department of Anesthesiology A F T, S L, L Enfant Jésus Hospital, CHU de Québec and Axe Traumatologie Urgence Soins Intensifs Trauma Emergency Critical Care Medicine Unit, Universite Laval, Quebec, Canada
    Neurology 81:770-1. 2013
    ..1) Some evidence also suggests that PRIS is related to a mitochondrial toxicity of propofol.(2,3.) ..
  29. pmc Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians
    Juan Zhao
    Le Centre de recherche en neurosciences, Institut universitaire en santé mentale de Québec, 2601 Chemin de Canardière, Quebec, QC, G1J 2G3, Canada
    J Physiol 590:2629-44. 2012
    ..Increased extracellular concentrations of potassium had no effect on either M1476I or WT currents. These results indicated that cooling can augment the disruption of the voltage dependence of fast inactivation by M1476I channels...
  30. doi Mattis Dementia Rating Scale 2: screening for MCI and dementia
    Evelyne Matteau
    Ecole de Psychologie, Université Laval and Centre de recherche Université Laval Robert Giffard, Quebec City, Quebec, Canada
    Am J Alzheimers Dis Other Demen 26:389-98. 2011
    ..No difference was found between the MCI groups. The MDRS-2 is a suitable short scale for MCI and dementia screening but is not specific enough to differentiate between A-MCI and PD-MCI...
  31. doi A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy
    Robert Laforce
    Département des Sciences Neurologiques, Centre Hospitalier Affilie Universitaire De Quebec, Hopital de l Enfant Jesus, Quebec, Canada
    Clin Neurol Neurosurg 111:691-4. 2009
    ..We present herein the clinical, neuroimaging, neuromuscular, and molecular findings of the first French Canadian patient with MNGIE caused by a novel homozygous invariant splicing site (IVS5 +1 G>A) mutation of the TYMP gene...
  32. doi Intra-arterial milrinone for reversible cerebral vasoconstriction syndrome
    Manon Bouchard
    Department of Neurological Sciences, CHA Enfant Jésus, Faculty of Medicine, Laval University, Quebec City, QC, Canada
    Headache 49:142-5. 2009
    ..Within hours of neurological deterioration, she was treated with intra-arterial milrinone, a phosphodiesterase inhibitor, which resulted in a rapid and sustained neurological improvement...
  33. ncbi Adrenomyeloneuropathy: report of a new mutation in a French Canadian female
    Annie Dionne
    Départment des Sciences Neurologiques, CHAUQ Hôpital Enfant Jésus, McGill University, QC, Canada
    Can J Neurol Sci 32:261-3. 2005
    ..Female heterozygotes can be symptomatic, but they are frequently misdiagnosed as having multiple sclerosis...
  34. doi Increased obstacle clearance in people with ARCA-1 results in part from voluntary coordination changes between the thigh and shank segments
    Michael James Maclellan
    Center for Interdisciplinary Research in Rehabilitation and Social Integration, Quebec Rehabilitation Institute, Quebec, QC, Canada
    Cerebellum 10:732-44. 2011
    ..Further work is required to determine whether ataxia severity has an effect on the observed coordination variables...