Publications by authors named "Daniel Rochefort"

38Publications

SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome.

Eur J Hum Genet 2020 Nov 22;28(11):1520-1528. Epub 2020 Jun 22.

Department of Human Genetics, McGill University, Montréal, QC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-020-0670-4DOI Listing
November 2020

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

Am J Hum Genet 2016 Nov 13;99(5):1072-1085. Epub 2016 Oct 13.

Montreal Neurological Institute and Hospital, McGill University, Montréal, QC H3A 2B4, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC H3A 0G4, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2016.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097946PMC
November 2016

C9orf72 repeat expansions are a rare genetic cause of parkinsonism.

Brain 2013 Feb;136(Pt 2):385-91

Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, UMR-S975; Inserm, U975, CNRS, UMR 7225, 75013 Paris, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/aws357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984141PMC
February 2013

Investigation of C9orf72 repeat expansions in Parkinson's disease.

Neurobiol Aging 2013 Jun 27;34(6):1710.e7-9. Epub 2012 Dec 27.

Centre of Excellence in Neuroscience of Université de Montréal (CENUM), CHUM Research Center and the Department of Medicine, Montreal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurobiolaging.2012.11.025DOI Listing
June 2013

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.

Eur J Hum Genet 2013 Jul 21;21(7):749-56. Epub 2012 Nov 21.

Department of Medicine, Centre of Excellence in Neuroscience of Université de Montréal, CRCHUM Notre-Dame Hospital, Montreal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2012.243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722945PMC
July 2013

Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.

Hum Mol Genet 2012 May 14;21(10):2211-8. Epub 2012 Feb 14.

Center of Excellence in Neuroscience of the Université de Montréal (CENUM), Centre de Recherche du Centre Hospitalier de l’Université de Montréal (CRCHUM), Montréal, Québec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/dds036DOI Listing
May 2012

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.

Hum Mol Genet 2008 Sep 19;17(17):2703-11. Epub 2008 Jun 19.

Department of Medicine, Centre of Excellence in Neuromics, CHUM Research Centre, University of Montreal, Montreal, QC, Canada.

View Article

Download full-text PDF

Source
https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
Publisher Site
http://dx.doi.org/10.1093/hmg/ddn172DOI Listing
September 2008

Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy.

Neurobiol Dis 2007 Jun 15;26(3):546-57. Epub 2007 Feb 15.

Center for Study of Brain Disease, CHUM Research Center, Notre-Dame Hospital, J.A. De-Sève Pavilion Y-3633, 1560 Sherbrooke East, Montreal (Québec), Canada H2L 4M1.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nbd.2007.02.004DOI Listing
June 2007

Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice.

Neurobiol Dis 2005 Apr;18(3):528-36

McGill University Health Center Research Institute and the Centre for Research in Neurosciences, McGill University, 1650 Cedar Avenue (L7-224), Montréal, Québec, Canada, H3G 1A4.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nbd.2004.09.021DOI Listing
April 2005

Mutational analysis of neurotensin in familial restless legs syndrome.

Mov Disord 2004 Jan;19(1):90-4

Centre d'étude du sommeil, Hôpital du Sacré-Coeur de Montréal and Centre de recherche en sciences neurologiques, Université de Montréal, Québec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.10617DOI Listing
January 2004

Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.

Arch Neurol 2003 Dec;60(12):1768-71

Centre for Research in Neuroscience, McGill University, and Montréal General Hospital Research Institute, Montréal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://archneur.jamanetwork.com/article.aspx?doi=10.1001/arc
Publisher Site
http://dx.doi.org/10.1001/archneur.60.12.1768DOI Listing
December 2003

Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia.

Genomics 2003 Aug;82(2):162-71

Centre for Research in Neuroscience, McGill University and the McGill University Health Centre Research Institute, 1650 Cedar Avenue, Montreal, Quebec, Canada H3G 1A4.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0888-7543(03)00101-0DOI Listing
August 2003

NF2 tumor suppressor gene: a comprehensive and efficient detection of somatic mutations by denaturing HPLC and microarray-CGH.

Neuromolecular Med 2003 ;3(1):41-52

Genetica y Biologia Molecular, Facultad de Farmacia y Bioquimica y Hospital de Clinicas, Universitdad de Buenos Aires, Junin 956, 1113 Buenos Aires, Argentina.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1385/NMM:3:1:41
Publisher Site
http://dx.doi.org/10.1385/NMM:3:1:41DOI Listing
May 2003

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).

Epilepsy Res 2003 Feb;53(1-2):107-17

Center for Research in Neuroscience, McGill University Health Center Research Institute, McGill University, The Montreal General Hospital, 1650 Cedar Avenue, Quebec, H3G 1A4, Montreal, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0920-1211(02)00259-0DOI Listing
February 2003