Dan Spiegelman

Dan Spiegelman

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Dan Spiegelman

Dan Spiegelman

Publications by authors named "Dan Spiegelman"

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Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.

Mol Genet Genomic Med 2020 Jan 15:e1052. Epub 2020 Jan 15.

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

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http://dx.doi.org/10.1002/mgg3.1052DOI Listing
January 2020

SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia.

J Hum Genet 2019 Nov 12;64(11):1145-1151. Epub 2019 Sep 12.

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

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http://dx.doi.org/10.1038/s10038-019-0669-2DOI Listing
November 2019

Genetic architecture and adaptations of Nunavik Inuit.

Proc Natl Acad Sci U S A 2019 Aug 22;116(32):16012-16017. Epub 2019 Jul 22.

Montreal Neurological Institute and Hospital, McGill University, Montréal, Québec, Canada H3A 2B4;

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http://dx.doi.org/10.1073/pnas.1810388116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6689950PMC
August 2019

Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease.

Eur J Med Genet 2019 Jan 26;62(1):65-69. Epub 2018 May 26.

Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261782PMC
January 2019

Common and rare GCH1 variants are associated with Parkinson's disease.

Neurobiol Aging 2019 01 15;73:231.e1-231.e6. Epub 2018 Sep 15.

Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251729PMC
January 2019

Sequencing of the GBA coactivator, Saposin C, in Parkinson disease.

Neurobiol Aging 2018 12 2;72:187.e1-187.e3. Epub 2018 Jul 2.

Montreal Neurological Institute, McGill University, Montréal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada; McGill Parkinson Program and Neurodegenerative Diseases Group, Montreal Neurological Institute, McGill University, Montréal, QC, Canada; Department of Human Genetics, McGill University, Montréal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.06.034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215722PMC
December 2018

Screening of novel restless legs syndrome-associated genes in French-Canadian families.

Neurol Genet 2018 Dec 20;4(6):e296. Epub 2018 Dec 20.

Department of Human Genetics (F.A., Z.G.-O., G.A.R.), McGill University; Montreal Neurological Institute (F.A., D.S., A.D.-L., Z.G.-O., P.A.D., G.A.R.), McGill University; and Department of Neurology and Neurosurgery (Z.G.-O., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305992PMC
December 2018

LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder.

Parkinsonism Relat Disord 2018 07 21;52:98-101. Epub 2018 Mar 21.

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

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http://dx.doi.org/10.1016/j.parkreldis.2018.03.019DOI Listing
July 2018

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

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

No rare deleterious variants from , , and are associated with essential tremor.

Neurol Genet 2017 Oct 19;3(5):e195. Epub 2017 Oct 19.

Montreal Neurological Institute and Hospital (G.H., A.A., J.-F.S., C.S.L., D.S., S.B.L., C.V.B., P.A.D., G.A.R.), Quebec, Canada; Department of Human Genetics (G.H., A.A., C.S.L., P.A.D., G.A.R.) and Department of Neurology and Neurosurgery (J.-F.S., P.A.D., G.A.R.), McGill University, Montreal, Quebec, Canada; Xenon Pharmaceuticals Inc (C.G.), Burnaby, British Columbia, Canada; André Barbeau Movement Disorders Unit (M.P., S.C.), Centre Hospitalier Universitaire de Montréal (CHUM)-Notre-Dame, Quebec, Canada; Department of Medicine (N.D.), Faculty of Medicine, Laval University, Quebec, Canada; Département des Sciences Neurologiques (N.D.), CHU de Québec (Enfant-Jésus), Quebec, Canada; Department of Medical Genetics (C.V.-G.), University of British Columbia, Vancouver, British Columbia, Canada; Division of Neurology (A.R.), Saskatchewan Movement Disorders Program, University of Saskatchewan, Saskatoon Health Region, Saskatoon, Canada; and Département des Sciences Fondamentales (S.L.G.), Université du Québec à Chicoutimi, Saguenay, Canada.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
Publisher Site
http://dx.doi.org/10.1212/NXG.0000000000000195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281551PMC
October 2017

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

Hum Mutat 2017 06 24;38(6):716-724. Epub 2017 Mar 24.

CHU Sainte Justine Research Center and University of Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/humu.23214DOI Listing
June 2017

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:

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

Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease.

Neurobiol Aging 2016 09 3;45:212.e13-212.e17. Epub 2016 May 3.

Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.04.023DOI Listing
September 2016

Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population.

PLoS One 2015 26;10(5):e0128255. Epub 2015 May 26.

Montreal Neurological Institute and Hospital, McGill University, Montréal (Que), Canada; Department of Neurology and Neurosurgery, McGill University, Montréal (Que), Canada.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0128255PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444093PMC
April 2016

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis.

Neurobiol Aging 2016 Jan 28;37:209.e17-209.e21. Epub 2015 Sep 28.

Montreal Neurological Institute and Hospital, McGill University, Montreal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.09.013DOI Listing
January 2016

Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome.

Sleep Med 2015 Sep 17;16(9):1151-5. Epub 2015 Jun 17.

Montreal Neurological Institute and McGill University, Montréal, QC, Canada; Department of Human Genetics, McGill University, Montréal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.sleep.2015.06.002DOI Listing
September 2015

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.

Eur J Hum Genet 2012 Jul 18;20(7):796-800. Epub 2012 Jan 18.

Centre of Excellence in Neuroscience of Université de Montréal, Centre de Recherche du CHU Sainte-Justine, Montréal, Quebec, Canada.

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http://dx.doi.org/10.1038/ejhg.2011.271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376261PMC
July 2012

Increased exonic de novo mutation rate in individuals with schizophrenia.

Nat Genet 2011 Jul 10;43(9):860-3. Epub 2011 Jul 10.

Centre of Excellence in Neuromics of Université de Montréal, Centre Hospitalier de l'Université de Montréal Research Center, Montréal, Québec, Canada.

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http://www.nature.com/articles/ng.886
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http://dx.doi.org/10.1038/ng.886DOI Listing
July 2011

Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis.

Arch Neurol 2011 May 10;68(5):587-93. Epub 2011 Jan 10.

Centre of Excellence in Neuromics, Centre hospitalier de l'Université de Montréal Research Center, 2099 Alexandre De-Seve St., Montreal, QC, Canada.

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http://dx.doi.org/10.1001/archneurol.2010.351DOI Listing
May 2011

De novo truncating mutation in Kinesin 17 associated with schizophrenia.

Biol Psychiatry 2010 Oct 19;68(7):649-56. Epub 2010 Jun 19.

Department of Medicine, Center of Excellence in Neuromics of Université de Montréal, Centre Hospitalier de l'Université de Montreal Research Center, University of Montréal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.biopsych.2010.04.018DOI Listing
October 2010

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

Ann Neurol 2009 Jun;65(6):748-53

Centre of Excellence in Neuromics of Université de Montréal and Synapse to Disease Group, Centre Hospitalier Universitaire Sainte-Justine Research Center, Université de Montréal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/ana.21625DOI Listing
June 2009

Novel de novo SHANK3 mutation in autistic patients.

Am J Med Genet B Neuropsychiatr Genet 2009 Apr;150B(3):421-4

Centre of Excellence in Neuromics of Université de Montréal, CHUM Research Centre, Notre-Dame Hospital, Université de Montréal, Montreal, QC, Canada.

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http://dx.doi.org/10.1002/ajmg.b.30822DOI Listing
April 2009

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

Nat Genet 2008 May 30;40(5):572-4. Epub 2008 Mar 30.

Center of Excellence in Neuromics, Centre Hospitalier de l'Universite de Montreal, and Department of Medicine, University of Montreal, Montreal, Quebec H2L4MI, Canada.

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http://dx.doi.org/10.1038/ng.132DOI Listing
May 2008

A survey of the methods for the characterization of microbial consortia and communities.

Can J Microbiol 2005 May;51(5):355-86

Biotechnology Research Institute, National Research Council Canada, Montreal, QC.

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http://dx.doi.org/10.1139/w05-003DOI Listing
May 2005