Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Ma, Estiar"'
Autor:
Forouzanfar K, Seifi M, Farzad Hashemi-Gorji, Karimi N, Ma, Estiar, Karimoei M, Sakhinia E, Karimipour M, Ghergherehchi R
Publikováno v:
Europe PubMed Central
Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive enzymatic disorder involving the synthesis of adrenal corticosteroids. 21-Hydroxylase deficiency (21-OHD) is the most common form of the disease which is observed in more than 9
Publikováno v:
Iranian Journal of Pediatric Hematology and Oncology
Europe PubMed Central
Europe PubMed Central
Background Classification of cancer subtypes by means of microarray signatures is becoming increasingly difficult to ignore as a potential to transform pathological diagnosis; nonetheless, measurement of Indicator genes in routine practice appears to
Autor:
Krohn L; Department of Human Genetics, McGill University, Montréal, QC, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada., Heilbron K; 23andMe, Inc., Sunnyvale, CA, USA., Blauwendraat C; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA., Reynolds RH; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.; Great Ormond Street Institute of Child Health, Genetics and Genomic Medicine, University College London, London, UK., Yu E; Department of Human Genetics, McGill University, Montréal, QC, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada., Senkevich K; Department of Human Genetics, McGill University, Montréal, QC, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada., Rudakou U; Department of Human Genetics, McGill University, Montréal, QC, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada., Estiar MA; Department of Human Genetics, McGill University, Montréal, QC, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada., Gustavsson EK; Great Ormond Street Institute of Child Health, Genetics and Genomic Medicine, University College London, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK., Brolin K; Lund University, Translational Neurogenetics Unit, Department of Experimental Medical Science, Lund, Sweden., Ruskey JA; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada., Freeman K; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada., Asayesh F; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada., Chia R; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA., Arnulf I; Sleep Disorders Unit, Pitié Salpêtrière Hospital, APHP-Sorbonne, Paris Brain Insitute and Sorbonne University, Paris, France., Hu MTM; Oxford Parkinson's Disease Centre (OPDC), University of Oxford, Oxford, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Montplaisir JY; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, QC, Canada.; Department of Psychiatry, Université de Montréal, Montréal, QC, Canada., Gagnon JF; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, QC, Canada.; Department of Psychology, Université du Québec à Montréal, Montreal, QC, Canada., Desautels A; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, QC, Canada.; Department of Neurosciences, Université de Montréal, Montréal, QC, Canada., Dauvilliers Y; National Reference Center for Narcolepsy, Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Institute Neuroscience Montpellier Inserm, Montpellier, France., Gigli GL; Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy., Valente M; Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy.; Department of Medicine (DAME), University of Udine, Udine, Italy., Janes F; Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy., Bernardini A; Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy., Högl B; Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Stefani A; Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Ibrahim A; Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Šonka K; Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic., Kemlink D; Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic., Oertel W; Department of Neurology, Philipps-University, Marburg, Germany., Janzen A; Department of Neurology, Philipps-University, Marburg, Germany., Plazzi G; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio-Emilia, Modena, Italy.; IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy., Biscarini F; Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy., Antelmi E; IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy.; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Figorilli M; Department of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy., Puligheddu M; Department of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy., Mollenhauer B; Paracelsus-Elena-Klinik, Kassel, Germany.; Department of Neurology, University Medical Centre Goettingen, Goettingen, Germany., Trenkwalder C; Paracelsus-Elena-Klinik, Kassel, Germany.; Department of Neurology, University Medical Centre Goettingen, Goettingen, Germany., Sixel-Döring F; Department of Neurology, Philipps-University, Marburg, Germany.; Paracelsus-Elena-Klinik, Kassel, Germany., Cochen De Cock V; Sleep and Neurology Unit, Beau Soleil Clinic, Montpellier, France.; EuroMov Digital Health in Motion, University of Montpellier IMT Mines Ales, Montpellier, France., Monaca CC; University Lille North of France, Department of Clinical Neurophysiology and Sleep Center, CHU Lille, Lille, France., Heidbreder A; Institute of Sleep Medicine and Neuromuscular Disorders, University of Münster, Münster, Germany., Ferini-Strambi L; Department of Neurological Sciences, Università Vita-Salute San Raffaele, Milan, Italy., Dijkstra F; Laboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium.; Department of Neurology, St. Dimpna Regional Hospital, Geel, Belgium.; Department of Neurology, Antwerp University Hospital, Edegem, Belgium., Viaene M; Laboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium.; Department of Neurology, St. Dimpna Regional Hospital, Geel, Belgium., Abril B; Sleep disorder Unit, Carémeau Hospital, University Hospital of Nîmes, Nîmes, France., Boeve BF; Department of Neurology, Mayo Clinic, Rochester, MN, USA., Scholz SW; Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA., Ryten M; Great Ormond Street Institute of Child Health, Genetics and Genomic Medicine, University College London, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK., Bandres-Ciga S; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA., Noyce A; Preventive Neurology Unit, Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK.; Department of Clinical and Movement Neurosciences, University College London, Institute of Neurology, London, UK., Cannon P; 23andMe, Inc., Sunnyvale, CA, USA., Pihlstrøm L; Department of Neurology, Oslo University Hospital, Oslo, Norway., Nalls MA; Data Tecnica International, Glen Echo, MD, USA.; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA., Singleton AB; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA., Rouleau GA; Department of Human Genetics, McGill University, Montréal, QC, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada., Postuma RB; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada., Gan-Or Z; Department of Human Genetics, McGill University, Montréal, QC, Canada. ziv.gan-or@mcgill.ca.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada. ziv.gan-or@mcgill.ca.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada. ziv.gan-or@mcgill.ca.
Publikováno v:
Nature communications [Nat Commun] 2022 Dec 05; Vol. 13 (1), pp. 7496. Date of Electronic Publication: 2022 Dec 05.
Autor:
Rebelo AP; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL., Ruiz A; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL., Dohrn MF; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL; Department of Neurology, Medical Faculty RWTH Aachen University, Aachen, Germany., Wayand M; Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany., Farooq A; Department of Biochemistry and Molecular Biology, Miller School of Medicine, University of Miami, Miami, FL., Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL., Beijer D; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL., Aaron B; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL., Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Matalonga L; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain., Abreu L; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL., Rouleau G; Department of Human Genetics, Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada., Estiar MA; Department of Human Genetics, Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada., Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium., Gan-Or Z; Department of Human Genetics, Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada., Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Neuromuscular Reference Center, Antwerp University Hospital and Faculty of Medicine University of Antwerp, Antwerp, Belgium., Schüle R; Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL. Electronic address: szuchner@med.miami.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Dec; Vol. 24 (12), pp. 2487-2500. Date of Electronic Publication: 2022 Sep 22.
Autor:
Hijazi H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Reis LM; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, USA., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA., Bernstein JA; Department of Pediatrics, Division of Medical Genetics, Stanford School of Medicine, Stanford, CA, USA., Muriello M; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, USA., Syverson E; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, USA., Bonner D; Department of Pediatrics, Division of Medical Genetics, Stanford School of Medicine, Stanford, CA, USA., Estiar MA; Department of Human Genetics, McGill University, Montreal, QC, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada., Gan-Or Z; Department of Human Genetics, McGill University, Montreal, QC, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada; Department of Neurology & Neurosurgery, McGill University, Montreal, QC, Canada., Rouleau GA; Department of Human Genetics, McGill University, Montreal, QC, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada; Department of Neurology & Neurosurgery, McGill University, Montreal, QC, Canada., Lyulcheva E; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK., Greenhalgh L; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK., Tessarech M; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France., Colin E; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France., Guichet A; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France., Bonneau D; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Lachmeijer AMA; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Ruaud L; INSERM UMR1141, Neurodiderot, University of Paris, 75019 Paris, France; APHP.Nord, Robert Debré University Hospital, Department of Genetics, 75019 Paris, France., Levy J; APHP.Nord, Robert Debré University Hospital, Department of Genetics, 75019 Paris, France., Tabet AC; APHP.Nord, Robert Debré University Hospital, Department of Genetics, 75019 Paris, France., Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Kępczyński Ł; Department of Genetics, Polish Mother's Memorial Hospital - Research Institute, Łódź, Poland., Połatyńska K; Department of Developmental Neurology an Epileptology, Polish Mother's Memorial Hospital - Research Institute, Łódź, Poland., Li Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Hobson GM; Department of Research, Nemours Children's Health, Wilmington, DE, USA., Hunter JV; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX, USA., Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Semina EV; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, USA; Departments of Ophthalmology and Visual Sciences and Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI, USA. Electronic address: esemina@mcw.edu., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA. Electronic address: jlupski@bcm.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2022 Dec 01; Vol. 109 (12), pp. 2270-2282. Date of Electronic Publication: 2022 Nov 10.
Autor:
Paul F; Laboratory of Human Genetics & Therapeutics, Institute of Molecular and Cell Biology (IMCB), A*STAR, Singapore., Ng C; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A*STAR, Singapore., Mohamad Sahari UB; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A*STAR, Singapore., Nafissi S; Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran., Nilipoor Y; Pediatric Pathology Research Centre, Research Institute for Children Health, Shahid Beheshti Medical University, Tehran, Iran., Tavasoli AR; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Tehran University Of Medical Sciences, Tehran, Iran., Bonnard C; Model Development, A*STAR Skin Research Labs (ASRL), Singapore., Wong PM; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A*STAR, Singapore., Nabavizadeh N; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A*STAR, Singapore.; Department of Cell and Molecular Biology & Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran.; Department of Medical Genetics, Koç University School of Medicine, Istanbul, Turkey., Altunoğlu U; Department of Medical Genetics, Koç University School of Medicine, Istanbul, Turkey., Estiar MA; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada., Majoie CB; Department of Radiology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands., Lee H; 3billion Inc., Seoul, South Korea.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Nelson SF; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Gan-Or Z; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada., Rouleau GA; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada., Van Veldhoven PP; Laboratory of Lipid Biochemistry and Protein Interactions (LIPIT), Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium., Massie R; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada., Hennekam RC; Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands., Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Centre, Tehran, Iran., Reversade B; Laboratory of Human Genetics & Therapeutics, Institute of Molecular and Cell Biology (IMCB), A*STAR, Singapore.; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A*STAR, Singapore.; Department of Medical Genetics, Koç University School of Medicine, Istanbul, Turkey.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2022 Oct 28; Vol. 31 (21), pp. 3729-3740.
Autor:
Estiar MA; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada., Lail N; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Varghaei P; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada.; Division of Experimental Medicine, Department of Medicine, McGill University, Montréal, Quebec, Canada., Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Gillespie MK; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Yoon G; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; Division of Neurology, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Rouleau GA; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada., Gan-Or Z; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.
Publikováno v:
Annals of neurology [Ann Neurol] 2022 May; Vol. 91 (5), pp. 730-732. Date of Electronic Publication: 2021 Dec 14.
Autor:
Varghaei P; Division of Experimental Medicine, Department of Medicine, McGill University, Montreal, Quebec, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada., Estiar MA; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Québec, Canada., Ashtiani S; Alberta Children's Hospital, Medical Genetics, Calgary, Alberta, Canada., Veyron S; Department of Pharmacology & Therapeutics and Centre de Recherche en Biologie Structurale - FRQS, McGill University, Montréal, Canada., Mufti K; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Québec, Canada., Leveille E; Faculty of Medicine, McGill University, Montreal, QC, Canada., Yu E; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Québec, Canada., Spiegelman D; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada., Rioux MF; Department of Neurology, Université de Sherbrooke, Sherbrooke, Québec, Canada., Yoon G; Divisions of Neurology and Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada., Tarnopolsky M; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Dupre N; Department of Medicine, Faculty of Medicine, Université Laval, Québec City, Quebec, Canada; Neuroscience Axis, CHU de Québec-Université Laval, Québec City, Québec, Canada., Suchowersky O; Alberta Children's Hospital, Medical Genetics, Calgary, Alberta, Canada; Departments of Medicine (Neurology) and Medical Genetics, University of Alberta, Edmonton, Alberta, Canada., Trempe JF; Department of Pharmacology & Therapeutics and Centre de Recherche en Biologie Structurale - FRQS, McGill University, Montréal, Canada., Rouleau GA; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada. Electronic address: guy.rouleau@mcgill.ca., Gan-Or Z; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada. Electronic address: ziv.gan-or@mcgill.ca.
Publikováno v:
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2022 May; Vol. 98, pp. 62-69. Date of Electronic Publication: 2022 Apr 16.
Autor:
Sosero YL; Department of Human Genetics, McGill University, Montréal, QC, Canada.; Montreal Neurological Institute, McGill University, Montréal, QC, Canada., Yu E; Department of Human Genetics, McGill University, Montréal, QC, Canada.; Montreal Neurological Institute, McGill University, Montréal, QC, Canada., Estiar MA; Department of Human Genetics, McGill University, Montréal, QC, Canada.; Montreal Neurological Institute, McGill University, Montréal, QC, Canada., Krohn L; Department of Human Genetics, McGill University, Montréal, QC, Canada.; Montreal Neurological Institute, McGill University, Montréal, QC, Canada., Mufti K; Department of Human Genetics, McGill University, Montréal, QC, Canada.; Montreal Neurological Institute, McGill University, Montréal, QC, Canada., Rudakou U; Department of Human Genetics, McGill University, Montréal, QC, Canada.; Montreal Neurological Institute, McGill University, Montréal, QC, Canada., Ruskey JA; Montreal Neurological Institute, McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada., Asayesh F; Montreal Neurological Institute, McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada., Laurent SB; Montreal Neurological Institute, McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada., Spiegelman D; Montreal Neurological Institute, McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada., Trempe JF; Department of Pharmacology & Therapeutics and Centre de Recherche en Biologie Structurale, McGill University, Montréal, Québec, Canada., Quinnell TG; Royal Papworth Hospital NHS Trust, Cambridge, UK., Oscroft N; Royal Papworth Hospital NHS Trust, Cambridge, UK., Arnulf I; Sleep Disorders Unit, Sorbonne University, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Hôpital de la Pitié Salpêtrière, Paris, France., Montplaisir JY; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Coeur de Montréal, Montréal, QC, Canada.; Department of Psychiatry, Université de Montréal, Montréal, QC, Canada., Gagnon JF; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Coeur de Montréal, Montréal, QC, Canada.; Department of Psychology, Université du Québec à Montréal, Montréal, QC, Canada., Desautels A; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Coeur de Montréal, Montréal, QC, Canada.; Department of Neurosciences, Université de Montréal, Montréal, QC, Canada., Dauvilliers Y; National Reference Centre for Orphan Diseases, Narcolepsy- Rare hypersomnias, Sleep Unit, Department of Neurology, CHU Montpellier, Institute for Neurosciences of Montpellier INM, Univ Montpellier, INSERM, Montpellier, France., Gigli GL; Department of Neurosciences, Clinical Neurology Unit, University Hospital of Udine, Udine, Italy.; Department of Medicine (DAME), University of Udine, Udine, Italy., Valente M; Department of Neurosciences, Clinical Neurology Unit, University Hospital of Udine, Udine, Italy.; Department of Medicine (DAME), University of Udine, Udine, Italy., Janes F; Department of Neurosciences, Clinical Neurology Unit, University Hospital of Udine, Udine, Italy., Bernardini A; Department of Neurosciences, Clinical Neurology Unit, University Hospital of Udine, Udine, Italy., Sonka K; Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic., Kemlink D; Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic., Oertel W; Department of Neurology, Philipps University, Marburg, Germany., Janzen A; Department of Neurology, Philipps University, Marburg, Germany., Plazzi G; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.; IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy., Antelmi E; IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy.; Department of Neurosciences, Neurology Unit, Movement Disorders Division, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Biscarini F; Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy., Figorilli M; Department of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy., Puligheddu M; Department of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy., Mollenhauer B; Paracelsus-Elena-Klinik, Kassel, Germany.; Department of Neurology, University Medical Centre Göttingen, Göttingen, Germany., Trenkwalder C; Paracelsus-Elena-Klinik, Kassel, Germany.; Department of Neurology, University Medical Centre Göttingen, Göttingen, Germany., Sixel-Döring F; Department of Neurology, Philipps University, Marburg, Germany.; Paracelsus-Elena-Klinik, Kassel, Germany., Cochen De Cock V; Sleep and Neurology Unit, Beau Soleil Clinic, Montpellier, France.; EuroMov, University of Montpellier, Montpellier, France., Monaca CC; Department of Clinical Neurophysiology and Sleep Center, University Lille North of France, CHU Lille, Lille, France., Heidbreder A; Department of Sleep Medicine and Neuromuscular Disorders, University of Münster, Münster, Germany., Ferini-Strambi L; Department of Neurological Sciences, Università Vita-Salute San Raffaele, Milan, Italy., Dijkstra F; Laboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium.; Department of Neurology, St. Dimpna Regional Hospital, Geel, Belgium.; Department of Neurology, University Hospital Antwerp, Edegem, Antwerp, Belgium., Viaene M; Laboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium.; Department of Neurology, St. Dimpna Regional Hospital, Geel, Belgium., Abril B; Sleep disorder Unit, Carémeau Hospital, University Hospital of Nîmes, France., Boeve BF; Department of Neurology, Mayo Clinic, Rochester, MN, USA., Postuma RB; Montreal Neurological Institute, McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada.; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Coeur de Montréal, Montréal, QC, Canada., Rouleau GA; Department of Human Genetics, McGill University, Montréal, QC, Canada.; Montreal Neurological Institute, McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada., Ibrahim A; Department of Neurology, Sleep Disorders Clinic, Medical University of Innsbruck, Innsbruck, Austria., Stefani A; Department of Neurology, Sleep Disorders Clinic, Medical University of Innsbruck, Innsbruck, Austria., Högl B; Department of Neurology, Sleep Disorders Clinic, Medical University of Innsbruck, Innsbruck, Austria., Hu MTM; Department of Sleep Medicine and Neuromuscular Disorders, University of Münster, Münster, Germany.; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Gan-Or Z; Department of Human Genetics, McGill University, Montréal, QC, Canada.; Montreal Neurological Institute, McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada.
Publikováno v:
Journal of Parkinson's disease [J Parkinsons Dis] 2022; Vol. 12 (1), pp. 333-340.
Autor:
Gilley J; John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom., Jackson O; John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom., Pipis M; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, United Kingdom., Estiar MA; Department of Human Genetics, McGill University, Montreal, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Canada., Al-Chalabi A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.; Department of Neurology, King's College Hospital, King's College London, London, United Kingdom., Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, United States., van Eijk KR; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Goutman SA; Department of Neurology, University of Michigan, Ann Arbor, United States., Harms MB; Institute for Genomic Medicine, Columbia University, New York, United States., Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, United Kingdom., Iacoangeli A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United Kingdom.; National Institute for Health Research Biomedical Research Centre and Dementia Unit at South London and Maudsley NHS Foundation Trust and King's College London, London, United Kingdom., Kaye J; Center for Systems and Therapeutics, Gladstone Institutes, San Francisco, United States., Lima L; Center for Systems and Therapeutics, Gladstone Institutes, San Francisco, United States.; Gladstone Institute of Data Science and Biotechnology, Gladstone Institutes, San Francisco, United States., Ravits J; Department of Neurosciences, University of California, San Diego, La Jolla, United States., Rouleau GA; Department of Human Genetics, McGill University, Montreal, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, Canada., Schüle R; Center for Neurology and Hertie Institute für Clinical Brain Research, University of Tübingen, German Center for Neurodegenerative Diseases, Tübingen, Germany., Xu J; Center for Neurology and Hertie Institute für Clinical Brain Research, University of Tübingen, German Center for Neurodegenerative Diseases, Tübingen, Germany., Züchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, United States., Cooper-Knock J; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, United Kingdom., Gan-Or Z; Department of Human Genetics, McGill University, Montreal, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, Canada., Reilly MM; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, United Kingdom., Coleman MP; John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.
Publikováno v:
ELife [Elife] 2021 Nov 19; Vol. 10. Date of Electronic Publication: 2021 Nov 19.