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Daniel Rochefort

Research Profile

Concepts & Ideas

Disorders

Anatomy

Physiology

Mutation

Chemicals & Drugs

Genes & Molecular Sequences

Amino Acid Sequences

Living Beings

Phenomena

Polymorphism, Single-Stranded Conformational

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Publications

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Hussein Daoud; Patrick A Dion; Nicolas Dupré; Edward A Fon; Maude Turcotte Gauthier; Nicolas Jodoin; Anne Noreau; Gabriel Paquin-Lanthier; Emmanuelle Pourcher; Pierre Provencher; Daniel Rochefort; Sylvain Chouinard; Valérie Soland; Guy A Rouleau
Investigation of C9orf72 repeat expansions in Parkinson's disease.
Suzanne Lesage; Karl Mondon; Florence Pasquier; Daniel Rochefort; Guy A Rouleau; Stéphane Thobois; Alexis Brice; Emmanuel Broussolle; Christel Condroyer; Patrick A Dion; Alexandra Dürr; Audrey Gabelle; Isabelle Le Ber
C9orf72 repeat expansions are a rare genetic cause of parkinsonism.
Martin H Berryer; Lionel Carmant; Miriam H Beauchamp; Céline Belhumeur; Sylvia Dobrzeniecka; Christine M Eng; Fadi F Hamdan; Helle Hjalgrim; Ladonna Immken; Laura L Klitten; Jean-Claude Lacaille; Jacek Majewski; Jacques L Michaud; Rikke Steensbjerre Møller; Mathilde Neugnot-Cerioli; Zhiyv Niu; Sylvain Palardy; Gayle Simpson Patel; Lysanne Patry; Daniel Rochefort; Guy A Rouleau; Klaus Scheffzek; Jeremy Schwartzentruber; Mark A Tarnopolsky; Niels Tommerup; Yaping Yang; Graziella Di Cristo
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

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All Publications

2013: Hussein Daoud; Patrick A Dion; Nicolas Dupré; Edward A Fon; Maude Turcotte Gauthier; Nicolas Jodoin; Anne Noreau; Gabriel Paquin-Lanthier; Emmanuelle Pourcher; Pierre Provencher; Daniel Rochefort; Sylvain Chouinard; Valérie Soland; Guy A Rouleau
Investigation of C9orf72 repeat expansions in Parkinson's disease.
Neurobiology of aging 2013;34(6):1710.e7-9.
2013: Suzanne Lesage; Karl Mondon; Florence Pasquier; Daniel Rochefort; Guy A Rouleau; Stéphane Thobois; Alexis Brice; Emmanuel Broussolle; Christel Condroyer; Patrick A Dion; Alexandra Dürr; Audrey Gabelle; Isabelle Le Ber
C9orf72 repeat expansions are a rare genetic cause of parkinsonism.
Brain : a journal of neurology 2013;136(Pt 2):385-91.
2013: Martin H Berryer; Lionel Carmant; Miriam H Beauchamp; Céline Belhumeur; Sylvia Dobrzeniecka; Christine M Eng; Fadi F Hamdan; Helle Hjalgrim; Ladonna Immken; Laura L Klitten; Jean-Claude Lacaille; Jacek Majewski; Jacques L Michaud; Rikke Steensbjerre Møller; Mathilde Neugnot-Cerioli; Zhiyv Niu; Sylvain Palardy; Gayle Simpson Patel; Lysanne Patry; Daniel Rochefort; Guy A Rouleau; Klaus Scheffzek; Jeremy Schwartzentruber; Mark A Tarnopolsky; Niels Tommerup; Yaping Yang; Graziella Di Cristo
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Human mutation 2013;34(2):385-94.
2012: Shawn J Stochmanski; Martine Therrien; Don J Van Meyel; Kishanda Vyboh; Graziella Di Cristo; Patrick Dion; Claudia Gaspar; Rebecca Gaudet; Liliane Karemera; Josée Laganière; Sandra Laurent; Daniel Rochefort; Guy A Rouleau
Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.
Human molecular genetics 2012;21(10):2211-8.
2012: Masoud Shekarabi; Susana G Sotocinal; Adéle Salin-Cantegrel; Patrick A Dion; Rébecca Gaudet; Pascale Hince; Karine Huot; Nyoman Kurniawan; Josée Laganière; Jeffrey S Mogil; Randal X Moldrich; Sarah Rasheed; Linda J Richards; Jennifer Ritchie; Daniel Rochefort; Guy A Rouleau
Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2012;32(11):3865-76.
2011: Jean-Baptiste Rivière; Daniel Rochefort; Masoud Shekarabi; Myriam Srour; Vincent Timmerman; Hilde Van Esch; Jonathan Baets; Bernard Brais; Peter De Jonghe; Patrick A Dion; Rébecca Gaudet; Pascale Hince; Sébastien Holbert; Henry Houlden; Julie Lafontaine; Valérie Lavastre; Nancy Merner; Anne-Marie Mes-Masson; Shahriar Nafissi; Garth A Nicholson; Siriram Ramalingam; Mary M Reilly; Guy A Rouleau
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
American journal of human genetics 2011;89(2):219-30.
2011: Adèle Salin-Cantegrel; Masoud Shekarabi; Sandra Dacal; Patrick A Dion; Claudia Gaspar; Rébecca Gaudet; Janet Laganière; Jean-Yves Lapointe; Gaëtan Lesca; Sarah Rasheed; Jean-Baptiste Rivière; Daniel Rochefort; Guy A Rouleau
Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.
The Journal of biological chemistry 2011;286(32):28456-65.
2007: Christiane Messaed; Patrick Dion; Aida Abu-Baker; Daniel Rochefort; janet laganiere; Bernard Brais; Guy Rouleau
Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy.
Neurobiology of disease 2007;26(3):546-57.
2005: Qing Ling Duan; Borzoo Nikpoor; Marie-Pierre Dube; Giuseppe Molinaro; Inge A Meijer; Patrick Dion; Daniel Rochefort; Judith Saint-Onge; Leah Flury; Nancy Brown; James V Gainer; Jean-Lucien Rouleau; Angelo Agostoni; Massimo Cugno; Pierre Simon; Pierre Clavel; Jacky Potier; Bassem Wehbe; Seddik Benarbia; Julien Marc-Aurele; Jacques Chanard; Tatiana Foroud; Albert Adam; Guy Rouleau
A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors.
American journal of human genetics 2005;77(4):617-26.
2005: Patrick Dion; Vijayalakshmi Shanmugam; Claudia Gaspar; Christiane Messaed; Inge A Meijer; André Toulouse; janet laganiere; Julie Roussel; Daniel Rochefort; Simon Laganiere; Carol Allen; George Karpati; Jean-Pierre Bouchard; Bernard Brais; Guy Rouleau
Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice.
Neurobiology of disease 2005;18(3):528-36.
2003: Collette K Hand; Rebecca S Devon; François Gros-Louis; Daniel Rochefort; Jawad Khoris; Vincent Meininger; Jean-Pierre Bouchard; William Camu; Michael R Hayden; Guy Rouleau
Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.
Archives of neurology 2003;60(12):1768-71.
2003: André Toulouse; Daniel Rochefort; Julie Roussel; Ridha Joober; Guy Rouleau
Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia.
Genomics 2003;82(2):162-71.
2003: Patrick Cossette; Andrew Loukas; Ronald G Lafrenière; Daniel Rochefort; Erik Harvey-Girard; David S Ragsdale; Robert J Dunn; Guy Rouleau
Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).
Epilepsy research 2003;53(1-2):107-17.
2002: Heidi C Howard; David B Mount; Daniel Rochefort; Nellie Byun; Nicolas Dupré; Jianming Lu; Xuemo Fan; Luyan Song; Jean-Baptiste Rivière; Claude Prévost; Jürgen Horst; Alessandro Simonati; Beate Lemcke; Rick Welch; Roger England; Frank Q Zhan; Adriana Mercado; William B Siesser; Alfred L George; Michael P McDonald; Jean-Pierre Bouchard; Jean Mathieu; Eric Delpire; Guy Rouleau
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Nature genetics 2002;32(3):384-92.
2001: Anny Fortin; Eduardo Diez; Daniel Rochefort; Line Laroche; Danielle Malo; Guy Rouleau; Philippe Gros; Emil Skamene
Recombinant congenic strains derived from A/J and C57BL/6J: a tool for genetic dissection of complex traits.
Genomics 2001;74(1):21-35.
2000: Vijayalakshmi Shanmugam; Patrick Dion; Daniel Rochefort; Josée Laganière; Bernard Brais; Guy Rouleau
PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy.
Annals of neurology 2000;48(5):798-802.
1998: Ya-Gang Xie; Daniel Rochefort; Bernard Brais; Heidi C Howard; Fei-Yu Han; L P Gou; Patrícia Maciel; B T The; C Larsson; Guy Rouleau
Restriction map of a YAC and cosmid contig encompassing the oculopharyngeal muscular dystrophy candidate region on chromosome 14q11.2-q13.
Genomics 1998;52(2):201-4.
1998: Bernard Brais; Jean-Pierre Bouchard; Ya-Gang Xie; Daniel Rochefort; N Chrétien; Fernando M S Tomé; Ronald G Lafrenière; Johanna M Rommens; Eiichiro Uyama; O Nohira; Sergiu C Blumen; Amos D Korczyn; Peter Heutink; Jean Mathieu; André Duranceau; François Codère; M Fardeau; Guy Rouleau; A D Korcyn
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.
Nature genetics 1998;18(2):164-7.
1997: Ronald G Lafrenière; Zoha Kibar; Daniel Rochefort; Fei-Yu Han; Edward A Fon; Marie-Pierre Dubé; X Kang; S Baird; Robert G Korneluk; Johanna M Rommens; Guy Rouleau
Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3.
Gene 1997;198(1-2):313-21.
1997: Ronald G Lafrenière; Daniel Rochefort; N Chrétien; Johanna M Rommens; J I Cochius; Reetta Kälviäinen; U Nousiainen; G Patry; K Farrell; B Söderfeldt; A Federico; B R Hale; O H Cossio; T Sørensen; M A Pouliot; T Kmiec; P Uldall; J Janszky; M R Pranzatelli; F Andermann; Eva Andermann; Guy Rouleau
Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.
Nature genetics 1997;15(3):298-302.
1996: Ronald G Lafrenière; Daniel Rochefort; Zoha Kibar; E A Fon; Fei-Yu Han; J Cochius; X Kang; S Baird; R G Korneluk; Eva Andermann; Johanna M Rommens; Guy Rouleau
Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3.
Genomics 1996;38(3):264-72.
1996: Ronald G Lafrenière; Daniel Rochefort; N Chrétien; C E Neville; R G Korneluk; L Zuo; Y Wei; J Lichter; Guy Rouleau
Isolation and genomic structure of a human homolog of the yeast periodic tryptophan protein 2 (PWP2) gene mapping to 21q22.3.
Genome research 1996;6(12):1216-26.