Guy A Rouleau

Guy A Rouleau

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Guy A Rouleau

Publications by authors named "Guy A Rouleau"

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Oligogenicity, C9orf72 expansion, and variant severity in ALS.

Neurogenetics 2020 May 8. Epub 2020 May 8.

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

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http://dx.doi.org/10.1007/s10048-020-00612-7DOI Listing
May 2020

Exome sequencing in genetic disease: recent advances and considerations.

F1000Res 2020 6;9. Epub 2020 May 6.

Department of Human Genetics, McGill University, 3640 University, Montréal, QC, H3A 0C7, Canada.

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http://dx.doi.org/10.12688/f1000research.19444.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7205110PMC
May 2020

Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34.

Neurol Genet 2020 Apr 20;6(2):e403. Epub 2020 Feb 20.

Department of Medicine (M.B., L.S., N.D.), Faculty of Medicine, Université Laval; Division of Neurosciences (M.B., L.M., N.D.), CHU de Québec - Université Laval; Clinique Interdisciplinaire de Mémoire (L.S., R.L.), CHU de Québec; Laval University Experimental Organogenesis Research Center/LOEX (C.M., L.T.-D., F.G.-L.), Division of Regenerative Medicine, CHU de Québec Research Center - Enfant-Jésus Hospital; Montreal Neurological Institute (G.H., G.A.R.), McGill University, Québec, Canada; CHU Grenoble-Alpes (L.M.), Grenoble, France; CIUSSS de la Mauricie-et-du-Centre-du-Québec (K.L.), Trois-Rivières; Centre universitaire d'ophtalmologie (A.L.), Department of Surgery, Faculty of Medicine, CHU de Québec - Université Laval; and Centre Mère-Enfant-Soleil (N.C.), Université Laval, Québec, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000403DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073455PMC
April 2020

Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease.

Neurobiol Aging 2020 Apr 8. Epub 2020 Apr 8.

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.neurobiolaging.2020.03.021DOI Listing
April 2020

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

Mol Genet Genomic Med 2020 Mar 15;8(3):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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057081PMC
March 2020

Association of polygenic score for major depression with response to lithium in patients with bipolar disorder.

Authors:
Azmeraw T Amare Klaus Oliver Schubert Liping Hou Scott R Clark Sergi Papiol Micah Cearns Urs Heilbronner Franziska Degenhardt Fasil Tekola-Ayele Yi-Hsiang Hsu Tatyana Shekhtman Mazda Adli Nirmala Akula Kazufumi Akiyama Raffaella Ardau Bárbara Arias Jean-Michel Aubry Lena Backlund Abesh Kumar Bhattacharjee Frank Bellivier Antonio Benabarre Susanne Bengesser Joanna M Biernacka Armin Birner Clara Brichant-Petitjean Pablo Cervantes Hsi-Chung Chen Caterina Chillotti Sven Cichon Cristiana Cruceanu Piotr M Czerski Nina Dalkner Alexandre Dayer Maria Del Zompo J Raymond DePaulo Bruno Étain Stephane Jamain Peter Falkai Andreas J Forstner Louise Frisen Mark A Frye Janice M Fullerton Sébastien Gard Julie S Garnham Fernando S Goes Maria Grigoroiu-Serbanescu Paul Grof Ryota Hashimoto Joanna Hauser Stefan Herms Per Hoffmann Andrea Hofmann Esther Jiménez Jean-Pierre Kahn Layla Kassem Po-Hsiu Kuo Tadafumi Kato John R Kelsoe Sarah Kittel-Schneider Sebastian Kliwicki Barbara König Ichiro Kusumi Gonzalo Laje Mikael Landén Catharina Lavebratt Marion Leboyer Susan G Leckband Alfonso Tortorella Mirko Manchia Lina Martinsson Michael J McCarthy Susan L McElroy Francesc Colom Marina Mitjans Francis M Mondimore Palmiero Monteleone Caroline M Nievergelt Markus M Nöthen Tomas Novák Claire O'Donovan Norio Ozaki Urban Ösby Andrea Pfennig James B Potash Andreas Reif Eva Reininghaus Guy A Rouleau Janusz K Rybakowski Martin Schalling Peter R Schofield Barbara W Schweizer Giovanni Severino Paul D Shilling Katzutaka Shimoda Christian Simhandl Claire M Slaney Alessio Squassina Thomas Stamm Pavla Stopkova Mario Maj Gustavo Turecki Eduard Vieta Julia Veeh Stephanie H Witt Adam Wright Peter P Zandi Philip B Mitchell Michael Bauer Martin Alda Marcella Rietschel Francis J McMahon Thomas G Schulze Bernhard T Baune

Mol Psychiatry 2020 Mar 16. Epub 2020 Mar 16.

Department of Psychiatry and Psychotherapy, University of Münster, Münster, Germany.

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http://dx.doi.org/10.1038/s41380-020-0689-5DOI Listing
March 2020

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.

J Child Neurol 2020 Feb 16;35(2):106-110. Epub 2019 Oct 16.

Department of Pediatrics, Division of Pediatric Neurology, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1177/0883073819878917DOI Listing
February 2020

Analysis of common and rare variants in late-onset Parkinson disease.

Neurol Genet 2020 Feb 9;6(1):385. Epub 2020 Jan 9.

Department of Human Genetics (U.R., L.K., G.A.R, Z.G.-O.), McGill University, Montréal; Montreal Neurological Institute (U.R., J.A.R., L.K., S.B.L., D.S., G.A.R., E.A.F.Z.G.-O.), McGill University; Department of Neurology and Neurosurgery (J.A.R., S.B.L., D.S., G.A.R., E.A.F., Z.G.-O.), McGill University, Montréal, Québec, Canada; The Danek Gertner Institute of Human Genetics, Sheba Medical Center (L.G.); The Joseph Sagol Neuroscience Center (L.G., S.H.-B.), Sheba Medical Center, Tel Hashomer, Ramat Gan; Sackler School of Medicine (L.G., G.Y., S.H.-B.), Tel-Aviv University; Department of Neurology (G.Y., S.H.-B.), Sheba Medical Center; Movement Disorders Institute (G.Y., S.H.-B.), Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel; Centre d'Études Avancées en Médecine du Sommeil (A.D., J.Y.M.), Hôpital du Sacré-Cœur de Montréal; Department of Neurosciences (A.D.), Université de Montréal; Department of Psychiatry (J.Y.M.), Université de Montréal, Québec, Canada; Department of Neurology (S.F., C.H.W., O.L., C.M.K., S.N., R.N.A.), College of Physicians and Surgeons, Columbia University Medical Center, New York; Department of Neurology (Y.D.), National Reference Center for Narcolepsy, Sleep Unit, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Inserm, France; Division of Neurosciences (N.D.), CHU de Québec, Université Laval; Department of Medicine (N.D.), Faculty of Medicine, Université Laval, Québec City, Canada; and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University Medical Center, New York.

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http://dx.doi.org/10.1212/NXG.0000000000000385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6984134PMC
February 2020

Reliability and correlation of mixture cell correction in methylomic and transcriptomic blood data.

BMC Res Notes 2020 Feb 12;13(1):74. Epub 2020 Feb 12.

Université de Paris, Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, 102-108 Rue de la Santé, 75014, Paris, France.

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http://dx.doi.org/10.1186/s13104-020-4936-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017605PMC
February 2020

CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.

Eur J Med Genet 2019 Dec 17;62(12):103605. Epub 2018 Dec 17.

Department of Medicine (Neurology), University of Alberta, Edmonton, Canada; Departments of Medical Genetics and Pediatrics, University of Alberta, Edmonton, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183041
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http://dx.doi.org/10.1016/j.ejmg.2018.12.010DOI Listing
December 2019

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 08 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

and Restless Legs Syndrome: A Comprehensive Review.

Front Neurol 2019 28;10:935. Epub 2019 Aug 28.

Montreal Neurological Institute, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.3389/fneur.2019.00935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736557PMC
August 2019

Genome-wide estimates of heritability and genetic correlations in essential tremor.

Parkinsonism Relat Disord 2019 07 4;64:262-267. Epub 2019 May 4.

Fundació Docència i Recerca Mútua Terrassa, University Hospital Mútua de Terrassa, Terrassa, 08221, Barcelona, Spain; Movement Disorders Unit, Department of Neurology, University Hospital Mútua de Terrassa, Terrassa, 08222, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.05.002DOI Listing
July 2019

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.

Neurogenetics 2019 05 28;20(2):103-108. Epub 2019 Mar 28.

Departments of Pediatrics, Neurology & Neurosurgery, MUHC-Research Institute, McGill University, 1001 Blvd Décarie, Montreal, H4A 3J1, Canada.

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http://link.springer.com/10.1007/s10048-019-00572-7
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http://dx.doi.org/10.1007/s10048-019-00572-7DOI Listing
May 2019

Genome-wide association study identifies 30 loci associated with bipolar disorder.

Authors:
Eli A Stahl Gerome Breen Andreas J Forstner Andrew McQuillin Stephan Ripke Vassily Trubetskoy Manuel Mattheisen Yunpeng Wang Jonathan R I Coleman Héléna A Gaspar Christiaan A de Leeuw Stacy Steinberg Jennifer M Whitehead Pavlides Maciej Trzaskowski Enda M Byrne Tune H Pers Peter A Holmans Alexander L Richards Liam Abbott Esben Agerbo Huda Akil Diego Albani Ney Alliey-Rodriguez Thomas D Als Adebayo Anjorin Verneri Antilla Swapnil Awasthi Judith A Badner Marie Bækvad-Hansen Jack D Barchas Nicholas Bass Michael Bauer Richard Belliveau Sarah E Bergen Carsten Bøcker Pedersen Erlend Bøen Marco P Boks James Boocock Monika Budde William Bunney Margit Burmeister Jonas Bybjerg-Grauholm William Byerley Miquel Casas Felecia Cerrato Pablo Cervantes Kimberly Chambert Alexander W Charney Danfeng Chen Claire Churchhouse Toni-Kim Clarke William Coryell David W Craig Cristiana Cruceanu David Curtis Piotr M Czerski Anders M Dale Simone de Jong Franziska Degenhardt Jurgen Del-Favero J Raymond DePaulo Srdjan Djurovic Amanda L Dobbyn Ashley Dumont Torbjørn Elvsåshagen Valentina Escott-Price Chun Chieh Fan Sascha B Fischer Matthew Flickinger Tatiana M Foroud Liz Forty Josef Frank Christine Fraser Nelson B Freimer Louise Frisén Katrin Gade Diane Gage Julie Garnham Claudia Giambartolomei Marianne Giørtz Pedersen Jaqueline Goldstein Scott D Gordon Katherine Gordon-Smith Elaine K Green Melissa J Green Tiffany A Greenwood Jakob Grove Weihua Guan José Guzman-Parra Marian L Hamshere Martin Hautzinger Urs Heilbronner Stefan Herms Maria Hipolito Per Hoffmann Dominic Holland Laura Huckins Stéphane Jamain Jessica S Johnson Anders Juréus Radhika Kandaswamy Robert Karlsson James L Kennedy Sarah Kittel-Schneider James A Knowles Manolis Kogevinas Anna C Koller Ralph Kupka Catharina Lavebratt Jacob Lawrence William B Lawson Markus Leber Phil H Lee Shawn E Levy Jun Z Li Chunyu Liu Susanne Lucae Anna Maaser Donald J MacIntyre Pamela B Mahon Wolfgang Maier Lina Martinsson Steve McCarroll Peter McGuffin Melvin G McInnis James D McKay Helena Medeiros Sarah E Medland Fan Meng Lili Milani Grant W Montgomery Derek W Morris Thomas W Mühleisen Niamh Mullins Hoang Nguyen Caroline M Nievergelt Annelie Nordin Adolfsson Evaristus A Nwulia Claire O'Donovan Loes M Olde Loohuis Anil P S Ori Lilijana Oruc Urban Ösby Roy H Perlis Amy Perry Andrea Pfennig James B Potash Shaun M Purcell Eline J Regeer Andreas Reif Céline S Reinbold John P Rice Fabio Rivas Margarita Rivera Panos Roussos Douglas M Ruderfer Euijung Ryu Cristina Sánchez-Mora Alan F Schatzberg William A Scheftner Nicholas J Schork Cynthia Shannon Weickert Tatyana Shehktman Paul D Shilling Engilbert Sigurdsson Claire Slaney Olav B Smeland Janet L Sobell Christine Søholm Hansen Anne T Spijker David St Clair Michael Steffens John S Strauss Fabian Streit Jana Strohmaier Szabolcs Szelinger Robert C Thompson Thorgeir E Thorgeirsson Jens Treutlein Helmut Vedder Weiqing Wang Stanley J Watson Thomas W Weickert Stephanie H Witt Simon Xi Wei Xu Allan H Young Peter Zandi Peng Zhang Sebastian Zöllner Rolf Adolfsson Ingrid Agartz Martin Alda Lena Backlund Bernhard T Baune Frank Bellivier Wade H Berrettini Joanna M Biernacka Douglas H R Blackwood Michael Boehnke Anders D Børglum Aiden Corvin Nicholas Craddock Mark J Daly Udo Dannlowski Tõnu Esko Bruno Etain Mark Frye Janice M Fullerton Elliot S Gershon Michael Gill Fernando Goes Maria Grigoroiu-Serbanescu Joanna Hauser David M Hougaard Christina M Hultman Ian Jones Lisa A Jones René S Kahn George Kirov Mikael Landén Marion Leboyer Cathryn M Lewis Qingqin S Li Jolanta Lissowska Nicholas G Martin Fermin Mayoral Susan L McElroy Andrew M McIntosh Francis J McMahon Ingrid Melle Andres Metspalu Philip B Mitchell Gunnar Morken Ole Mors Preben Bo Mortensen Bertram Müller-Myhsok Richard M Myers Benjamin M Neale Vishwajit Nimgaonkar Merete Nordentoft Markus M Nöthen Michael C O'Donovan Ketil J Oedegaard Michael J Owen Sara A Paciga Carlos Pato Michele T Pato Danielle Posthuma Josep Antoni Ramos-Quiroga Marta Ribasés Marcella Rietschel Guy A Rouleau Martin Schalling Peter R Schofield Thomas G Schulze Alessandro Serretti Jordan W Smoller Hreinn Stefansson Kari Stefansson Eystein Stordal Patrick F Sullivan Gustavo Turecki Arne E Vaaler Eduard Vieta John B Vincent Thomas Werge John I Nurnberger Naomi R Wray Arianna Di Florio Howard J Edenberg Sven Cichon Roel A Ophoff Laura J Scott Ole A Andreassen John Kelsoe Pamela Sklar

Nat Genet 2019 05 1;51(5):793-803. Epub 2019 May 1.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://www.nature.com/articles/s41588-019-0397-8
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http://dx.doi.org/10.1038/s41588-019-0397-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956732PMC
May 2019

Investigating the association and causal relationship between restless legs syndrome and essential tremor.

Parkinsonism Relat Disord 2019 04 19;61:238-240. Epub 2018 Oct 19.

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.parkreldis.2018.10.022DOI Listing
April 2019

RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement.

Mol Ther Nucleic Acids 2019 Apr 15;15:12-25. Epub 2019 Feb 15.

Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A2B4, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.omtn.2019.02.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6403420PMC
April 2019

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.

Hum Genomics 2019 04 16;13(1):19. Epub 2019 Apr 16.

Center for Human Disease Modeling, Duke University Medical Center, Carmichael Building, 300 North Duke Street, Suite 48-118, Durham, NC, 27701, USA.

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http://dx.doi.org/10.1186/s40246-019-0203-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469102PMC
April 2019

Somatic expansion of the hexanucleotide repeat does not occur in ALS spinal cord tissues.

Neurol Genet 2019 Apr 19;5(2):e317. Epub 2019 Mar 19.

Department of Human Genetics (J.P.R., G.A.R.), McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute and Hospital (J.P.R., H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Pasteur Institute (C.S.L.), University Paris Diderot, Sorbonne Paris Cité, Paris, France; Department of Neurology and Neurosurgery (H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Department of Clinical Neurological Sciences and Robarts Research Institute (K.V., M.S.A.N.N.), Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Sunnybrook Health Sciences Centre (L.Z.); and Tanz Centre for Research in Neurodegenerative Diseases (J.R.), University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454309PMC
April 2019

Investigating polygenic burden in age at disease onset in bipolar disorder: Findings from an international multicentric study.

Authors:
Janos L Kalman Sergi Papiol Andreas J Forstner Urs Heilbronner Franziska Degenhardt Jana Strohmaier Mazda Adli Kristina Adorjan Nirmala Akula Martin Alda Heike Anderson-Schmidt Till Fm Andlauer Ion-George Anghelescu Raffaella Ardau Bárbara Arias Volker Arolt Jean-Michel Aubry Lena Backlund Kim Bartholdi Michael Bauer Bernhard T Baune Thomas Becker Frank Bellivier Antonio Benabarre Susanne Bengesser Abesh Kumar Bhattacharjee Joanna M Biernacka Armin Birner Clara Brichant-Petitjean Monika Budde Pablo Cervantes Caterina Chillotti Sven Cichon Scott R Clark Francesc Colom Ashley L Comes Cristiana Cruceanu Piotr M Czerski Udo Dannlowski Alexandre Dayer Maria Del Zompo Jay Raymond DePaulo Detlef E Dietrich Bruno Étain Thomas Ethofer Peter Falkai Andreas Fallgatter Christian Figge Laura Flatau Here Folkerts Louise Frisen Mark A Frye Janice M Fullerton Katrin Gade Sébastien Gard Julie S Garnham Fernando S Goes Maria Grigoroiu-Serbanescu Anna Gryaznova Maria Hake Joanna Hauser Stefan Herms Per Hoffmann Liping Hou Markus Jäger Stephane Jamain Esther Jiménez Georg Juckel Jean-Pierre Kahn Layla Kassem John Kelsoe Sarah Kittel-Schneider Sebastian Kliwicki Farah Klohn-Sagatholislam Manfred Koller Barbara König Carsten Konrad Nina Lackner Gonzalo Laje Mikael Landén Fabian U Lang Catharina Lavebratt Marion Leboyer Susan G Leckband Mario Maj Mirko Manchia Lina Martinsson Michael J McCarthy Susan L McElroy Francis J McMahon Philip B Mitchell Marina Mitjans Francis M Mondimore Palmiero Monteleone Vanessa Nieratschker Caroline M Nievergelt Tomas Novák Urban Ösby Andrea Pfennig James B Potash Daniela Reich-Erkelenz Andreas Reif Jens Reimer Eva Reininghaus Markus Reitt Stephan Ripke Guy A Rouleau Janusz K Rybakowski Martin Schalling Harald Scherk Max Schmauß Peter R Schofield K Oliver Schubert Eva C Schulte Sybille Schulz Fanny Senner Giovanni Severino Tatyana Shekhtman Paul D Shilling Christian Simhandl Claire M Slaney Carsten Spitzer Alessio Squassina Thomas Stamm Sophia Stegmaier Sebastian Stierl Pavla Stopkova Andreas Thiel Sarah K Tighe Alfonso Tortorella Gustavo Turecki Eduard Vieta Julia Veeh Martin von Hagen Moritz E Wigand Jens Wiltfang Stephanie Witt Adam Wright Peter P Zandi Jörg Zimmermann Markus Nöthen Marcella Rietschel Thomas G Schulze

Bipolar Disord 2019 02 28;21(1):68-75. Epub 2018 Jun 28.

Institute of Psychiatric Phenomics and Genomics (IPPG), University Hospital, LMU Munich, Munich, Germany.

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http://dx.doi.org/10.1111/bdi.12659DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6585855PMC
February 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

Sleep disorders and Parkinson disease; lessons from genetics.

Sleep Med Rev 2018 10 31;41:101-112. Epub 2018 Jan 31.

Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada.

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http://dx.doi.org/10.1016/j.smrv.2018.01.006DOI Listing
October 2018

Oppositional behavior and longitudinal predictions of early adulthood mental health problems in chronic tic disorders.

Psychiatry Res 2018 08 16;266:301-308. Epub 2018 Mar 16.

Department of Psychology, Université du Québec à Montréal, Box 8888, Montreal, QC H3C 3P8, Canada; CHU Sainte-Justine Research Center, Montreal, QC, Canada; Department of Psychiatry, Université de Montréal, Montreal, QC, Canada; Centre Hospitalier de l'Université de Montréal, Montreal, QC, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01651781173083
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http://dx.doi.org/10.1016/j.psychres.2018.03.026DOI Listing
August 2018

A rare variant in MLKL confers susceptibility to ApoE ɛ4-negative Alzheimer's disease in Hong Kong Chinese population.

Neurobiol Aging 2018 08 10;68:160.e1-160.e7. Epub 2018 Mar 10.

School of Biomedical Sciences, The University of Hong Kong, Hong Kong, China; Centre for Genome Sciences, The University of Hong Kong, Hong Kong, China; State Key Laboratory for Cognitive and Brain Sciences, The University of Hong Kong, Hong Kong, China; HKU-SIRI/ZIRI, The University of Hong Kong, Hong Kong, China; HKU-SUSTech Joint Laboratories of Matrix Biology and Diseases, The University of Hong Kong, Hong Kong, China. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.03.006DOI Listing
August 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

Multimodal neuroimaging analysis in patients with SYNE1 Ataxia.

J Neurol Sci 2018 07 4;390:227-230. Epub 2018 May 4.

Division of General Neurology and Ataxia Unit, Department of Neurology, Federal University of Sao Paulo, Sao Paulo, Brazil.

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http://dx.doi.org/10.1016/j.jns.2018.05.003DOI Listing
July 2018

Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.

J Psychiatry Neurosci 2018 07;43(4):223-244

From the Secció Zoologia i Antropologia Biològica, Dept Biologia Evolutiva, Ecologia i Ciències Ambientals, Facultat de Biologia, Universitat de Barcelona, Institut de Biomedicina de la Universitat de Barcelona (IBUB), Spain (Soler, Fañanás, Fatjó-Vilas); the Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain (Soler, Fañanás, Parellada, Fatjó-Vilas); Servicio de Psiquiatría del Niño y del Adolescente, Hospital General Universitario Gregorio Marañón, Madrid, Spain, Instituto de Investigación Sanitaria del Hospital Gregorio Marañón (IiSGM), Departamento de Psiquiatría, Facultad de Medicina, Universidad Complutense, Madrid, Spain (Parellada); the Centre Hospitalier Sainte-Anne, Service Hospitalo-Universitaire, Faculté de Médecine Paris Descartes, Paris, France (Krebs); the Université Paris Descartes, Inserm Centre de Psychiatrie et Neurosciences, Laboratoire de Physiopathologie des Maladies Psychiatriques, Paris, France (Krebs); the CNRS, GDR 3557, Institut de Psychiatrie, Paris, France (Krebs); the Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery, McGill University, Montreal, QC (Rouleau); and the FIDMAG Germanes Hospitalàries Research Foundation, Barcelona, Spain (Fatjó-Vilas).

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019351PMC
July 2018

Association study of essential tremor genetic loci in Parkinson's disease.

Neurobiol Aging 2018 06 6;66:178.e13-178.e15. Epub 2018 Jan 6.

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.2018.01.001DOI Listing
June 2018

Analysis of shared heritability in common disorders of the brain.

Authors:
Verneri Anttila Brendan Bulik-Sullivan Hilary K Finucane Raymond K Walters Jose Bras Laramie Duncan Valentina Escott-Price Guido J Falcone Padhraig Gormley Rainer Malik Nikolaos A Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H Lee Patrick Turley Benjamin Grenier-Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean-François Deleuze Emmanuelle Duron Badri N Vardarajan Christiane Reitz Alison M Goate Matthew J Huentelman M Ilyas Kamboh Eric B Larson Ekaterina Rogaeva Peter St George-Hyslop Hakon Hakonarson Walter A Kukull Lindsay A Farrer Lisa L Barnes Thomas G Beach F Yesim Demirci Elizabeth Head Christine M Hulette Gregory A Jicha John S K Kauwe Jeffrey A Kaye James B Leverenz Allan I Levey Andrew P Lieberman Vernon S Pankratz Wayne W Poon Joseph F Quinn Andrew J Saykin Lon S Schneider Amanda G Smith Joshua A Sonnen Robert A Stern Vivianna M Van Deerlin Linda J Van Eldik Denise Harold Giancarlo Russo David C Rubinsztein Anthony Bayer Magda Tsolaki Petra Proitsi Nick C Fox Harald Hampel Michael J Owen Simon Mead Peter Passmore Kevin Morgan Markus M Nöthen Martin Rossor Michelle K Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al-Chalabi Joshua C Bis Agustin Ruiz Mercè Boada Sudha Seshadri Alexa Beiser Kenneth Rice Sven J van der Lee Philip L De Jager Daniel H Geschwind Matthias Riemenschneider Steffi Riedel-Heller Jerome I Rotter Gerhard Ransmayr Bradley T Hyman Carlos Cruchaga Montserrat Alegret Bendik Winsvold Priit Palta Kai-How Farh Ester Cuenca-Leon Nicholas Furlotte Tobias Kurth Lannie Ligthart Gisela M Terwindt Tobias Freilinger Caroline Ran Scott D Gordon Guntram Borck Hieab H H Adams Terho Lehtimäki Juho Wedenoja Julie E Buring Markus Schürks Maria Hrafnsdottir Jouke-Jan Hottenga Brenda Penninx Ville Artto Mari Kaunisto Salli Vepsäläinen Nicholas G Martin Grant W Montgomery Mitja I Kurki Eija Hämäläinen Hailiang Huang Jie Huang Cynthia Sandor Caleb Webber Bertram Muller-Myhsok Stefan Schreiber Veikko Salomaa Elizabeth Loehrer Hartmut Göbel Alfons Macaya Patricia Pozo-Rosich Thomas Hansen Thomas Werge Jaakko Kaprio Andres Metspalu Christian Kubisch Michel D Ferrari Andrea C Belin Arn M J M van den Maagdenberg John-Anker Zwart Dorret Boomsma Nicholas Eriksson Jes Olesen Daniel I Chasman Dale R Nyholt Andreja Avbersek Larry Baum Samuel Berkovic Jonathan Bradfield Russell J Buono Claudia B Catarino Patrick Cossette Peter De Jonghe Chantal Depondt Dennis Dlugos Thomas N Ferraro Jacqueline French Helle Hjalgrim Jennifer Jamnadas-Khoda Reetta Kälviäinen Wolfram S Kunz Holger Lerche Costin Leu Dick Lindhout Warren Lo Daniel Lowenstein Mark McCormack Rikke S Møller Anne Molloy Ping-Wing Ng Karen Oliver Michael Privitera Rodney Radtke Ann-Kathrin Ruppert Thomas Sander Steven Schachter Christoph Schankin Ingrid Scheffer Susanne Schoch Sanjay M Sisodiya Philip Smith Michael Sperling Pasquale Striano Rainer Surges G Neil Thomas Frank Visscher Christopher D Whelan Federico Zara Erin L Heinzen Anthony Marson Felicitas Becker Hans Stroink Fritz Zimprich Thomas Gasser Raphael Gibbs Peter Heutink Maria Martinez Huw R Morris Manu Sharma Mina Ryten Kin Y Mok Sara Pulit Steve Bevan Elizabeth Holliday John Attia Thomas Battey Giorgio Boncoraglio Vincent Thijs Wei-Min Chen Braxton Mitchell Peter Rothwell Pankaj Sharma Cathie Sudlow Astrid Vicente Hugh Markus Christina Kourkoulis Joana Pera Miriam Raffeld Scott Silliman Vesna Boraska Perica Laura M Thornton Laura M Huckins N William Rayner Cathryn M Lewis Monica Gratacos Filip Rybakowski Anna Keski-Rahkonen Anu Raevuori James I Hudson Ted Reichborn-Kjennerud Palmiero Monteleone Andreas Karwautz Katrin Mannik Jessica H Baker Julie K O'Toole Sara E Trace Oliver S P Davis Sietske G Helder Stefan Ehrlich Beate Herpertz-Dahlmann Unna N Danner Annemarie A van Elburg Maurizio Clementi Monica Forzan Elisa Docampo Jolanta Lissowska Joanna Hauser Alfonso Tortorella Mario Maj Fragiskos Gonidakis Konstantinos Tziouvas Hana Papezova Zeynep Yilmaz Gudrun Wagner Sarah Cohen-Woods Stefan Herms Antonio Julià Raquel Rabionet Danielle M Dick Samuli Ripatti Ole A Andreassen Thomas Espeseth Astri J Lundervold Vidar M Steen Dalila Pinto Stephen W Scherer Harald Aschauer Alexandra Schosser Lars Alfredsson Leonid Padyukov Katherine A Halmi James Mitchell Michael Strober Andrew W Bergen Walter Kaye Jin Peng Szatkiewicz Bru Cormand Josep Antoni Ramos-Quiroga Cristina Sánchez-Mora Marta Ribasés Miguel Casas Amaia Hervas Maria Jesús Arranz Jan Haavik Tetyana Zayats Stefan Johansson Nigel Williams Astrid Dempfle Aribert Rothenberger Jonna Kuntsi Robert D Oades Tobias Banaschewski Barbara Franke Jan K Buitelaar Alejandro Arias Vasquez Alysa E Doyle Andreas Reif Klaus-Peter Lesch Christine Freitag Olga Rivero Haukur Palmason Marcel Romanos Kate Langley Marcella Rietschel Stephanie H Witt Soeren Dalsgaard Anders D Børglum Irwin Waldman Beth Wilmot Nikolas Molly Claiton H D Bau Jennifer Crosbie Russell Schachar Sandra K Loo James J McGough Eugenio H Grevet Sarah E Medland Elise Robinson Lauren A Weiss Elena Bacchelli Anthony Bailey Vanessa Bal Agatino Battaglia Catalina Betancur Patrick Bolton Rita Cantor Patrícia Celestino-Soper Geraldine Dawson Silvia De Rubeis Frederico Duque Andrew Green Sabine M Klauck Marion Leboyer Pat Levitt Elena Maestrini Shrikant Mane Daniel Moreno- De-Luca Jeremy Parr Regina Regan Abraham Reichenberg Sven Sandin Jacob Vorstman Thomas Wassink Ellen Wijsman Edwin Cook Susan Santangelo Richard Delorme Bernadette Rogé Tiago Magalhaes Dan Arking Thomas G Schulze Robert C Thompson Jana Strohmaier Keith Matthews Ingrid Melle Derek Morris Douglas Blackwood Andrew McIntosh Sarah E Bergen Martin Schalling Stéphane Jamain Anna Maaser Sascha B Fischer Céline S Reinbold Janice M Fullerton José Guzman-Parra Fermin Mayoral Peter R Schofield Sven Cichon Thomas W Mühleisen Franziska Degenhardt Johannes Schumacher Michael Bauer Philip B Mitchell Elliot S Gershon John Rice James B Potash Peter P Zandi Nick Craddock I Nicol Ferrier Martin Alda Guy A Rouleau Gustavo Turecki Roel Ophoff Carlos Pato Adebayo Anjorin Eli Stahl Markus Leber Piotr M Czerski Cristiana Cruceanu Ian R Jones Danielle Posthuma Till F M Andlauer Andreas J Forstner Fabian Streit Bernhard T Baune Tracy Air Grant Sinnamon Naomi R Wray Donald J MacIntyre David Porteous Georg Homuth Margarita Rivera Jakob Grove Christel M Middeldorp Ian Hickie Michele Pergadia Divya Mehta Johannes H Smit Rick Jansen Eco de Geus Erin Dunn Qingqin S Li Matthias Nauck Robert A Schoevers Aartjan Tf Beekman James A Knowles Alexander Viktorin Paul Arnold Cathy L Barr Gabriel Bedoya-Berrio O Joseph Bienvenu Helena Brentani Christie Burton Beatriz Camarena Carolina Cappi Danielle Cath Maria Cavallini Daniele Cusi Sabrina Darrow Damiaan Denys Eske M Derks Andrea Dietrich Thomas Fernandez Martijn Figee Nelson Freimer Gloria Gerber Marco Grados Erica Greenberg Gregory L Hanna Andreas Hartmann Matthew E Hirschtritt Pieter J Hoekstra Alden Huang Chaim Huyser Cornelia Illmann Michael Jenike Samuel Kuperman Bennett Leventhal Christine Lochner Gholson J Lyon Fabio Macciardi Marcos Madruga-Garrido Irene A Malaty Athanasios Maras Lauren McGrath Eurípedes C Miguel Pablo Mir Gerald Nestadt Humberto Nicolini Michael S Okun Andrew Pakstis Peristera Paschou John Piacentini Christopher Pittenger Kerstin Plessen Vasily Ramensky Eliana M Ramos Victor Reus Margaret A Richter Mark A Riddle Mary M Robertson Veit Roessner Maria Rosário Jack F Samuels Paul Sandor Dan J Stein Fotis Tsetsos Filip Van Nieuwerburgh Sarah Weatherall Jens R Wendland Tomasz Wolanczyk Yulia Worbe Gwyneth Zai Fernando S Goes Nicole McLaughlin Paul S Nestadt Hans-Jorgen Grabe Christel Depienne Anuar Konkashbaev Nuria Lanzagorta Ana Valencia-Duarte Elvira Bramon Nancy Buccola Wiepke Cahn Murray Cairns Siow A Chong David Cohen Benedicto Crespo-Facorro James Crowley Michael Davidson Lynn DeLisi Timothy Dinan Gary Donohoe Elodie Drapeau Jubao Duan Lieuwe Haan David Hougaard Sena Karachanak-Yankova Andrey Khrunin Janis Klovins Vaidutis Kučinskas Jimmy Lee Chee Keong Svetlana Limborska Carmel Loughland Jouko Lönnqvist Brion Maher Manuel Mattheisen Colm McDonald Kieran C Murphy Igor Nenadic Jim van Os Christos Pantelis Michele Pato Tracey Petryshen Digby Quested Panos Roussos Alan R Sanders Ulrich Schall Sibylle G Schwab Kang Sim Hon-Cheong So Elisabeth Stögmann Mythily Subramaniam Draga Toncheva John Waddington James Walters Mark Weiser Wei Cheng Robert Cloninger David Curtis Pablo V Gejman Frans Henskens Morten Mattingsdal Sang-Yun Oh Rodney Scott Bradley Webb Gerome Breen Claire Churchhouse Cynthia M Bulik Mark Daly Martin Dichgans Stephen V Faraone Rita Guerreiro Peter Holmans Kenneth S Kendler Bobby Koeleman Carol A Mathews Alkes Price Jeremiah Scharf Pamela Sklar Julie Williams Nicholas W Wood Chris Cotsapas Aarno Palotie Jordan W Smoller Patrick Sullivan Jonathan Rosand Aiden Corvin Benjamin M Neale Jonathan M Schott Richard Anney Josephine Elia Maria Grigoroiu-Serbanescu Howard J Edenberg Robin Murray

Science 2018 06;360(6395)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1126/science.aap8757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097237PMC
June 2018

Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.

J Psychiatry Neurosci 2018 May 28;43(4):170066. Epub 2018 May 28.

From the Secció Zoologia i Antropologia Biològica, Dept Biologia Evolutiva, Ecologia i Ciències Ambientals, Facultat de Biologia, Universitat de Barcelona, Institut de Biomedicina de la Universitat de Barcelona (IBUB), Spain (Soler, Fañanás, Fatjó-Vilas); the Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain (Soler, Fañanás, Parellada, Fatjó-Vilas); Servicio de Psiquiatría del Niño y del Adolescente, Hospital General Universitario Gregorio Marañón, Madrid, Spain, Instituto de Investigación Sanitaria del Hospital Gregorio Marañón (IiSGM), Departamento de Psiquiatría, Facultad de Medicina, Universidad Complutense, Madrid, Spain (Parellada); the Centre Hospitalier Sainte-Anne, Service Hospitalo-Universitaire, Faculté de Médecine Paris Descartes, Paris, France (Krebs); the Université Paris Descartes, Inserm Centre de Psychiatrie et Neurosciences, Laboratoire de 'Physiopathologie des maladies Psychiatriques, Paris, France (Krebs); the CNRS, GDR 3557, Institut de Psychiatrie, Paris, France (Krebs); the Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery, McGill University, Montreal, QC (Rouleau); and the FIDMAG Germanes Hospitalàries Research Foundation, Barcelona, Spain (Fatjó-Vilas).

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http://jpn.ca/vol43-issue4/43-4-223
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http://dx.doi.org/10.1503/jpn.170066DOI Listing
May 2018

Analysis of the Influence of microRNAs in Lithium Response in Bipolar Disorder.

Authors:
Céline S Reinbold Andreas J Forstner Julian Hecker Janice M Fullerton Per Hoffmann Liping Hou Urs Heilbronner Franziska Degenhardt Mazda Adli Kazufumi Akiyama Nirmala Akula Raffaella Ardau Bárbara Arias Lena Backlund Antonio Benabarre Susanne Bengesser Abesh K Bhattacharjee Joanna M Biernacka Armin Birner Cynthia Marie-Claire Pablo Cervantes Guo-Bo Chen Hsi-Chung Chen Caterina Chillotti Scott R Clark Francesc Colom David A Cousins Cristiana Cruceanu Piotr M Czerski Alexandre Dayer Bruno Étain Peter Falkai Louise Frisén Sébastien Gard Julie S Garnham Fernando S Goes Paul Grof Oliver Gruber Ryota Hashimoto Joanna Hauser Stefan Herms Stéphane Jamain Esther Jiménez Jean-Pierre Kahn Layla Kassem Sarah Kittel-Schneider Sebastian Kliwicki Barbara König Ichiro Kusumi Nina Lackner Gonzalo Laje Mikael Landén Catharina Lavebratt Marion Leboyer Susan G Leckband Carlos A López Jaramillo Glenda MacQueen Mirko Manchia Lina Martinsson Manuel Mattheisen Michael J McCarthy Susan L McElroy Marina Mitjans Francis M Mondimore Palmiero Monteleone Caroline M Nievergelt Urban Ösby Norio Ozaki Roy H Perlis Andrea Pfennig Daniela Reich-Erkelenz Guy A Rouleau Peter R Schofield K Oliver Schubert Barbara W Schweizer Florian Seemüller Giovanni Severino Tatyana Shekhtman Paul D Shilling Kazutaka Shimoda Christian Simhandl Claire M Slaney Jordan W Smoller Alessio Squassina Thomas J Stamm Pavla Stopkova Sarah K Tighe Alfonso Tortorella Gustavo Turecki Julia Volkert Stephanie H Witt Adam J Wright L Trevor Young Peter P Zandi James B Potash J Raymond DePaulo Michael Bauer Eva Reininghaus Tomáš Novák Jean-Michel Aubry Mario Maj Bernhard T Baune Philip B Mitchell Eduard Vieta Mark A Frye Janusz K Rybakowski Po-Hsiu Kuo Tadafumi Kato Maria Grigoroiu-Serbanescu Andreas Reif Maria Del Zompo Frank Bellivier Martin Schalling Naomi R Wray John R Kelsoe Martin Alda Francis J McMahon Thomas G Schulze Marcella Rietschel Markus M Nöthen Sven Cichon

Front Psychiatry 2018 31;9:207. Epub 2018 May 31.

Human Genomics Research Group, Department of Biomedicine, University of Basel, Basel, Switzerland.

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http://dx.doi.org/10.3389/fpsyt.2018.00207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991073PMC
May 2018

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.

Am J Med Genet A 2018 04 12;176(4):985-991. Epub 2018 Feb 12.

Department of Pediatrics, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38628DOI Listing
April 2018

Gene set enrichment analysis and expression pattern exploration implicate an involvement of neurodevelopmental processes in bipolar disorder.

J Affect Disord 2018 03 14;228:20-25. Epub 2017 Nov 14.

Institute of Neuroscience and Medicine (INM-1), Research Centre Jülich, Jülich, Germany; Department of Biomedicine & Institute of Medical Genetics and Pathology, Human Genomics Research Group and Division of Medical Genetics, Department of Biomedicine, University and University Hospital Basel, Basel, Switzerland; Institute of Human Genetics, Institute of Human Genetics, University of Bonn School of Medicine & University Hospital Bonn, Bonn, Germany; Department of Genomics, Life & Brain Research Center, University of Bonn, Bonn, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jad.2017.11.068DOI Listing
March 2018

TOX3 Variants Are Involved in Restless Legs Syndrome and Parkinson's Disease with Opposite Effects.

J Mol Neurosci 2018 Mar 5;64(3):341-345. Epub 2018 Feb 5.

Montreal Neurological Institute and Hospital, The Department of Human Genetics, McGill University, 1033 Pine Avenue West, Ludmer Pavilion, room 312, Montreal, QC, H3A 1A1, Canada.

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http://dx.doi.org/10.1007/s12031-018-1031-4DOI Listing
March 2018

Genetics of Intracranial Aneurysms.

Stroke 2018 03 6;49(3):780-787. Epub 2018 Feb 6.

From the Montréal Neurological Institute and Hospital (S.Z., P.A.D., G.A.R.) and Department of Neurology and Neurosurgery (P.A.D., G.A.R.), McGill University, Québec, Canada; and Department of Medicine, Université de Montréal, Québec, Canada (S.Z.).

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http://dx.doi.org/10.1161/STROKEAHA.117.018152DOI Listing
March 2018

A genome-wide association study identifies candidate loci associated to syringomyelia secondary to Chiari-like malformation in Cavalier King Charles Spaniels.

BMC Genet 2018 03 22;19(1):16. Epub 2018 Mar 22.

Department of Neurosciences, CHU Sainte Justine Research Center, University of Montréal, 3175 Cote-Sainte-Catherine, Room 3.17.006, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1186/s12863-018-0605-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865342PMC
March 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

variant mitigates Alzheimer disease pathophysiology in vivo and postmortem.

Neurol Genet 2018 Feb 30;4(1):e216. Epub 2018 Jan 30.

Translational Neuroimaging Laboratory (A.L.B., S.M., T.A.P., M.S., M.-S.K., P.R.-N.), and Alzheimer's Disease Research Unit (S.G., P.R.-N.), McGill University Research Centre for Studies in Aging, Montreal, Canada; CAPES Foundation (A.L.B.), Ministry of Education of Brazil, Brasília, Brazil; Rush Alzheimer's Disease Center (L.Y., D.A.B.), Rush University Medical Center, Chicago, IL; Department of Decision Sciences (A.L.), HEC Montreal, Montreal, Canada; Department of Epidemiology (A.L.), Biostatistics & Occupational Health, McGill University, Montreal, Canada; Department of Neurology and Neurosurgery (G.A.R., J.P., P.R.-N.), Douglas Hospital Research Centre (J.P., P.R.-N.), and Department of Psychiatry (J.P.), McGill University, Montreal, Canada; and Montreal Neurological Institute (G.A.R., P.R.-N.), Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820598PMC
February 2018

Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study.

Authors:
Azmeraw T Amare Klaus Oliver Schubert Liping Hou Scott R Clark Sergi Papiol Urs Heilbronner Franziska Degenhardt Fasil Tekola-Ayele Yi-Hsiang Hsu Tatyana Shekhtman Mazda Adli Nirmala Akula Kazufumi Akiyama Raffaella Ardau Bárbara Arias Jean-Michel Aubry Lena Backlund Abesh Kumar Bhattacharjee Frank Bellivier Antonio Benabarre Susanne Bengesser Joanna M Biernacka Armin Birner Clara Brichant-Petitjean Pablo Cervantes Hsi-Chung Chen Caterina Chillotti Sven Cichon Cristiana Cruceanu Piotr M Czerski Nina Dalkner Alexandre Dayer Maria Del Zompo J Raymond DePaulo Bruno Étain Peter Falkai Andreas J Forstner Louise Frisen Mark A Frye Janice M Fullerton Sébastien Gard Julie S Garnham Fernando S Goes Maria Grigoroiu-Serbanescu Paul Grof Ryota Hashimoto Joanna Hauser Stefan Herms Per Hoffmann Andrea Hofmann Stephane Jamain Esther Jiménez Jean-Pierre Kahn Layla Kassem Po-Hsiu Kuo Tadafumi Kato John Kelsoe Sarah Kittel-Schneider Sebastian Kliwicki Barbara König Ichiro Kusumi Gonzalo Laje Mikael Landén Catharina Lavebratt Marion Leboyer Susan G Leckband Alfonso Tortorella Mirko Manchia Lina Martinsson Michael J McCarthy Susan McElroy Francesc Colom Marina Mitjans Francis M Mondimore Palmiero Monteleone Caroline M Nievergelt Markus M Nöthen Tomas Novák Claire O'Donovan Norio Ozaki Urban Ösby Andrea Pfennig James B Potash Andreas Reif Eva Reininghaus Guy A Rouleau Janusz K Rybakowski Martin Schalling Peter R Schofield Barbara W Schweizer Giovanni Severino Paul D Shilling Katzutaka Shimoda Christian Simhandl Claire M Slaney Alessio Squassina Thomas Stamm Pavla Stopkova Mario Maj Gustavo Turecki Eduard Vieta Julia Volkert Stephanie Witt Adam Wright Peter P Zandi Philip B Mitchell Michael Bauer Martin Alda Marcella Rietschel Francis J McMahon Thomas G Schulze Bernhard T Baune

JAMA Psychiatry 2018 01;75(1):65-74

Discipline of Psychiatry, School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1001/jamapsychiatry.2017.3433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5833535PMC
January 2018

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.

Lancet Neurol 2017 11;16(11):898-907

Institute of Neurogenomics, Helmholtz Zentrum München, German Research Centre for Environmental Health, Neuherberg, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; Institute of Human Genetics, Technische Universität München, Munich, Germany; Neurologische Klinik und Poliklinik, Klinikum rechts der Isar der Technischen Universität München, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(17)30327-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5755468PMC
November 2017

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

KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects.

Neurobiol Dis 2017 Oct 21;106:35-48. Epub 2017 Jun 21.

The Institute for Neurosciences of Montpellier, Inserm UMR1051, Saint Eloi Hospital, Montpellier, France; Université Montpellier 1 & 2, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2017.06.013DOI Listing
October 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
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http://dx.doi.org/10.1212/NXG.0000000000000195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281551PMC
October 2017

Clinical Spectrum of Amyotrophic Lateral Sclerosis (ALS).

Cold Spring Harb Perspect Med 2017 Aug 1;7(8). Epub 2017 Aug 1.

Djavad Mowafaghian Centre for Brain Health, Department of Medicine (Neurology), University of British Columbia, Vancouver V6T 2B5, Canada.

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http://dx.doi.org/10.1101/cshperspect.a024117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538408PMC
August 2017

Identification of shared risk loci and pathways for bipolar disorder and schizophrenia.

PLoS One 2017 6;12(2):e0171595. Epub 2017 Feb 6.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0171595PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5293228PMC
August 2017

The Tanenbaum Open Science Institute: Leading a Paradigm Shift at the Montreal Neurological Institute.

Neuron 2017 Aug;95(5):1002-1006

Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2017.07.026DOI Listing
August 2017

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

Am J Hum Genet 2017 Jul;101(1):87-103

Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Genetics of Cognitive Dysfunction Laboratory, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501871PMC
July 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

Missense Mutation Associated With Fatty Acid Metabolism and Reduced Height in Greenlanders.

Circ Cardiovasc Genet 2017 Jun;10(3)

From the Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark (L.S., A.K., V.Y., B.S., M.A., S.W.M., J.E.N., J.M.M., M.L.B., F.G., M.M., B.F.); Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada (S.Z., P.A.D., G.A.R.); Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada (P.A.D., G.A.R.); Département de Médecine, Faculté de Médecine, Université de Montréal, Quebec, Canada (S.Z.); Greenland Center for Health Research, Institute of Nursing and Health Science, University of Greenland, Nuuk, Greenland (M.L.P.); Department of Clinical Medicine, University of Copenhagen, Denmark (M.M.); and Department of Medicine, Stanford University School of Medicine, California (M.M.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001618DOI Listing
June 2017

RIC3 variants are not associated with Parkinson's disease in French-Canadians and French.

Neurobiol Aging 2017 05 11;53:194.e9-194.e11. Epub 2017 Jan 11.

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

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.01.005DOI Listing
May 2017

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.

Am J Hum Genet 2017 May 20;100(5):824-830. Epub 2017 Apr 20.

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada; Departments of Pediatrics and Neurosciences, Université de Montréal, Montreal, QC H3T 1J4, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173011
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http://dx.doi.org/10.1016/j.ajhg.2017.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420346PMC
May 2017

Genetics of restless legs syndrome.

Sleep Med 2017 03 12;31:18-22. Epub 2016 Nov 12.

Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.sleep.2016.10.012DOI Listing
March 2017

Clinical and genetic study of hereditary spastic paraplegia in Canada.

Neurol Genet 2017 Feb 5;3(1):e122. Epub 2016 Dec 5.

Division of Neurology (N.C., G.Y.), Division of Clinical and Metabolic Genetics (S. Ahmed, H.M., G.Y.), Department of Paediatrics, University of Toronto, The Hospital for Sick Children; Faculty of Medicine (N.C., N.D., J.-D.B., K.M.-A.), Laval University, Quebec City; Department of Neurological Sciences (N.D., P.P.), CHU de Québec; Department of Neurology and Neurosurgery (Z.G.-O., N.M., P.A.D., G.A.R.), McGill University, Montreal Neurological Institute, Quebec; Department of Medical Genetics (A.S.), University of Montreal, CHUM, Quebec; The Hospital for Sick Children Research Institute (S.C.), Child Health Evaluative Sciences/Biostatistics Design & Analysis Unit, Toronto, Ontario; Department of Medicine (A.V., O.S.), Division of Neurology, Department of Medical Genetics (S. Ashtiani, O.S.), University of Alberta, Edmonton; Department of Genetics (J.W.-C., K.M.B.), Children's Hospital of Eastern Ontario, Ottawa; CHU de Québec (K.M.-A.), Hôpital Enfant-Jésus, Quebec City; Department of Paediatric Laboratory Medicine (D.J.S., P.N.R.), The Hospital for Sick Children, Toronto, Ontario; and Department of Molecular Genetics (P.N.R.), The University of Toronto, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141523PMC
February 2017

KCNA2 mutations are rare in hereditary spastic paraplegia.

Ann Neurol 2017 02;81(2):325-326

Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec.

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http://dx.doi.org/10.1002/ana.24855DOI Listing
February 2017

Systematic review of autosomal recessive ataxias and proposal for a classification.

Cerebellum Ataxias 2017 23;4. Epub 2017 Feb 23.

Faculty of Medicine, Université Laval, Quebec city, QC G1V 0A6 Canada.

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http://dx.doi.org/10.1186/s40673-017-0061-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324265PMC
February 2017