المؤلفون: Matthieu Moisse, Daphna Rothschild, Kevin P. Kenna, Tsviya Olender, Eran Segal, Aleksey Shatunov, Elik Chapnik, Elad Barkan, Sebastian Werneburg, Alfredo Iacoangeli, Justin K. Ichida, Pamela J. Shaw, Ammar Al-Chalabi, Farhan Smk, Dorothy P. Schafer, Eran Hornstein, Omer Weissbrod, Nancy S Yacovzada, Ashley R. Jones, van Eijk Kr, William Sproviero, Van Damme P, van den Berg Lh, Jan H. Veldink, Hung S, Robert H. Brown, van der Spek Raa, Aviad Siany, Chen Eitan, Johnathan Cooper-Knock, Al Khleifat A, Hemali Phatnani

مصطلحات موضوعية: Interleukin-18 receptor, Three prime untranslated region, microRNA, Neurodegeneration, medicine, Computational biology, Amyotrophic lateral sclerosis, Biology, medicine.disease, Genetic analysis, Genome, Genetic association

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7694d3e8d29fe3d56d03a5d31951adc3
https://doi.org/10.1101/2021.06.03.446863

المؤلفون: Maria Kousi, Jason R. Willer, Vincenzo La Bella, Guy A. Rouleau, Jay P. Ross, Patrick A. Dion, Sali M.K. Farhan, Mark J. Daly, Nicholas Katsanis, Benjamin M. Neale, Rossella Spataro

المساهمون: Spataro R, Kousi M, Farhan SMK, Willer JR, Ross JP, Dion PA, Rouleau GA, Daly MJ, Neale BM, La Bella V, Katsanis N, Centre of Excellence in Complex Disease Genetics, Institute for Molecular Medicine Finland

المصدر: Human Genomics, Vol 13, Iss 1, Pp 1-10 (2019)
Human Genomics

مصطلحات موضوعية: Male, Amyotrophic lateral sclerosis, ATP13A2, parkinsonism, lcsh:Medicine, 0302 clinical medicine, C9orf72, Drug Discovery, Amyotrophic lateral sclerosis, Index case, Zebrafish, Exome sequencing, Motor Neurons, Genetics, 0303 health sciences, DEMENTIA, 1184 Genetics, developmental biology, physiology, Middle Aged, Pedigree, 3. Good health, Proton-Translocating ATPases, Phenotype, Molecular Medicine, Female, Settore MED/26 - Neurologia, Primary Research, Adult, lcsh:QH426-470, SOD1, Biology, TARDBP, 03 medical and health sciences, Parkinsonian Disorders, Neuronal Ceroid-Lipofuscinoses, Exome Sequencing, medicine, Animals, Humans, Genetic Predisposition to Disease, Molecular Biology, 030304 developmental biology, Genetic heterogeneity, Amyotrophic Lateral Sclerosis, lcsh:R, medicine.disease, Disease Models, Animal, lcsh:Genetics, Mutation, Neuronal ceroid lipofuscinosis, 030217 neurology & neurosurgery, PARKINSONISM

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c2ec9a3c43eeb50ac77081fa9cadb97
http://hdl.handle.net/10447/436117

المؤلفون: Dilliott AA; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Montreal Neurological Institute-Hospital, McGill University, Montreal, QC, Canada., Costanzo MC; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Burtt NP; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Bandres-Ciga S; Center for Alzheimer's and Related Dementias, NIH, Bethesda, MD USA.; Laboratory of Neurogenetics, NIH, Bethesda, MD, USA., Blauwendraat C; Center for Alzheimer's and Related Dementias, NIH, Bethesda, MD USA.; Laboratory of Neurogenetics, NIH, Bethesda, MD, USA., Casey B; Michael J. Fox Foundation for Parkinson's Research, NY, NY USA., Hoang Q; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Iwaki H; Center for Alzheimer's and Related Dementias, NIH, Bethesda, MD USA.; DataTecnica LLC, Washington, DC, USA., Jang D; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Kim JJ; Center for Alzheimer's and Related Dementias, NIH, Bethesda, MD USA.; Laboratory of Neurogenetics, NIH, Bethesda, MD, USA., Leonard HL; Center for Alzheimer's and Related Dementias, NIH, Bethesda, MD USA.; DataTecnica LLC, Washington, DC, USA., Levine KS; Center for Alzheimer's and Related Dementias, NIH, Bethesda, MD USA.; DataTecnica LLC, Washington, DC, USA., Makarious M; Center for Alzheimer's and Related Dementias, NIH, Bethesda, MD USA.; Laboratory of Neurogenetics, NIH, Bethesda, MD, USA., Nguyen TT; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Rouleau GA; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Montreal Neurological Institute-Hospital, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada., Singleton AB; Center for Alzheimer's and Related Dementias, NIH, Bethesda, MD USA.; Laboratory of Neurogenetics, NIH, Bethesda, MD, USA., Smadbeck P; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Solle J; Michael J. Fox Foundation for Parkinson's Research, NY, NY USA., Vitale D; Center for Alzheimer's and Related Dementias, NIH, Bethesda, MD USA.; DataTecnica LLC, Washington, DC, USA., Nalls MA; Center for Alzheimer's and Related Dementias, NIH, Bethesda, MD USA.; Laboratory of Neurogenetics, NIH, Bethesda, MD, USA.; DataTecnica LLC, Washington, DC, USA., Flannick J; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Farhan SMK; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Montreal Neurological Institute-Hospital, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 May 28. Date of Electronic Publication: 2024 May 28.

نوع المنشور: Journal Article; Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Fiorini MR; The Montreal Neurological Institute-Hospital, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada., Dilliott AA; The Montreal Neurological Institute-Hospital, Montreal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada., Thomas RA; The Montreal Neurological Institute-Hospital, Montreal, QC, Canada. rhalena.thomas@mcgill.ca.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada. rhalena.thomas@mcgill.ca., Farhan SMK; The Montreal Neurological Institute-Hospital, Montreal, QC, Canada. sali.farhan@mcgill.ca.; Department of Human Genetics, McGill University, Montreal, QC, Canada. sali.farhan@mcgill.ca.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada. sali.farhan@mcgill.ca.

المصدر: Molecular neurobiology [Mol Neurobiol] 2024 Apr 05. Date of Electronic Publication: 2024 Apr 05.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 8900963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1182 (Electronic) Linking ISSN: 08937648 NLM ISO Abbreviation: Mol Neurobiol Subsets: MEDLINE

المؤلفون: Raghav Y; Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA., Dilliott AA; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada., Petrozziello T; Sean M. Healey &AMG Center for ALS at Mass General, Massachusetts General Hospital, Boston, Massachusetts, USA., Kim SE; Sean M. Healey &AMG Center for ALS at Mass General, Massachusetts General Hospital, Boston, Massachusetts, USA., Berry JD; Sean M. Healey &AMG Center for ALS at Mass General, Massachusetts General Hospital, Boston, Massachusetts, USA., Cudkowicz ME; Sean M. Healey &AMG Center for ALS at Mass General, Massachusetts General Hospital, Boston, Massachusetts, USA., Vakili K; Department of Surgery, Boston Children's Hospital, Boston, Massachusetts, USA., Fraenkel E; Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA., Farhan SMK; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.; Department of Genetics, McGill University, Montreal, Quebec, Canada.; Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada., Sadri-Vakili G; Sean M. Healey &AMG Center for ALS at Mass General, Massachusetts General Hospital, Boston, Massachusetts, USA.

مؤلفون مشاركون: NYGC ALS Consortium

المصدر: Muscle & nerve [Muscle Nerve] 2024 Apr; Vol. 69 (4), pp. 477-489. Date of Electronic Publication: 2024 Feb 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis*/genetics , Amyotrophic Lateral Sclerosis*/pathology , Neurodegenerative Diseases*, Humans ; Motor Neurons/pathology ; Gene Fusion

المؤلفون: Yoganathan S; Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India., Whitney R; Comprehensive Pediatric Epilepsy Program, Division of Neurology, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada., Thomas M; Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India., Danda S; Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India., Chettali AM; Department of Child Health, Royal Hospital, Muscat, Sultanate of Oman., Prasad AN; Division of Pediatric Neurology and Clinical Neurosciences, Department of Pediatrics, Children's Hospital, London Health Sciences Centre, London, Ontario, Canada., Farhan SMK; Department of Neurology and Neurosurgery, and Department of Human Genetics, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada., AlSowat D; Division of Pediatric Neurology, Neurosciences Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abukhaled M; Division of Pediatric Neurology, Neurosciences Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Aldhalaan H; Division of Pediatric Neurology, Neurosciences Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India., Kinhal UV; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India., Bylappa AY; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India., Konanki R; Department of Pediatric Neurology, Rainbow Children's Hospital, Hyderabad, Telangana, India., Lingappa L; Department of Pediatric Neurology, Rainbow Children's Hospital, Hyderabad, Telangana, India., Parchuri BM; Bindu Child Neuro Center, Vijayawada, Andhra Pradesh, India., Appendino JP; Pediatric Neurology Service, Department of Pediatrics, Cumming School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada., Scantlebury MH; Departments of Pediatrics and Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Cunningham J; Hospital Library and Archives, Learning Institute, Hospital for Sick Children, Toronto, Ontario, Canada., Hadjinicolaou A; Division of Neurology, Department of Pediatrics, CHU (Centre Hospitalier Universitaire) Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada., El Achkar CM; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Kamate M; Department of Pediatric Neurology, Jawaharlal Nehru Medical College, KLE (Karnataka Lingayat Education) Academy of Higher Education and Research, KLE's Dr Prabhakar Kore (PK) Hospital, Belagavi, Karnataka, India., Menon RN; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences & Technology, Thiruvananthapuram, Kerala, India., Jose M; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences & Technology, Thiruvananthapuram, Kerala, India., Riordan G; Department of Paediatric Neurology, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa., Kannan L; Advanced Center for Epilepsy, Gleneagles Global Health City, Chennai, Tamil Nadu, India., Jain V; Department of Pediatric Neurology, Neoclinic Children's Hospital, Jaipur, Rajasthan, India., Manokaran RK; Division of Pediatric neurology, Department of Neurology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India., Chau V; Division of Neurology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Donner EJ; Epilepsy Program, Division of Neurology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Costain G; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, and Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada., Minassian BA; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Jain P; Epilepsy Program, Division of Neurology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

المصدر: Epilepsia [Epilepsia] 2024 Mar; Vol. 65 (3), pp. 709-724. Date of Electronic Publication: 2024 Jan 17.

نوع المنشور: Systematic Review; Journal Article

بيانات الدورية: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsies, Myoclonic*/genetics , Myoclonic Epilepsies, Progressive*/genetics , Unverricht-Lundborg Syndrome*, Adolescent ; Child ; Child, Preschool ; Humans ; Infant ; Young Adult ; Electroencephalography ; Potassium Channels/genetics ; Seizures

المؤلفون: Ross JP; Department of Human Genetics, McGill University, Montréal, QC, Canada; Montréal Neurological Institute and Hospital, McGill University, Montréal, QC, Canada., Akçimen F; Department of Human Genetics, McGill University, Montréal, QC, Canada; Montréal Neurological Institute and Hospital, McGill University, Montréal, QC, Canada., Liao C; Department of Medicine, Harvard Medical School, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA., Kwan K; Department of Epidemiology, Biostatistics, and Occupational Health, McGill University, Montréal, QC, Canada., Phillips DE; Montréal Neurological Institute and Hospital, McGill University, Montréal, QC, Canada; Department of Biology, McGill University, Montréal, QC, Canada., Schmilovich Z; Department of Human Genetics, McGill University, Montréal, QC, Canada; Montréal Neurological Institute and Hospital, McGill University, Montréal, QC, Canada., Spiegelman D; Montréal Neurological Institute and Hospital, McGill University, Montréal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada., Genge A; Montréal Neurological Institute and Hospital, McGill University, Montréal, QC, Canada., Dupré N; Division of Neurosciences, CHU de Québec, Université Laval, Québec City, QC, Canada; Department of Medicine, Faculty of Medicine, Université Laval, Québec City, QC, Canada., Dion PA; Montréal Neurological Institute and Hospital, McGill University, Montréal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada., Farhan SMK; Department of Human Genetics, McGill University, Montréal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada., Rouleau GA; Department of Human Genetics, McGill University, Montréal, QC, Canada; Montréal Neurological Institute and Hospital, McGill University, Montréal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada. Electronic address: guy.rouleau@mcgill.ca.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jan; Vol. 26 (1), pp. 100967. Date of Electronic Publication: 2023 Aug 25.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis*/epidemiology , Amyotrophic Lateral Sclerosis*/genetics, Humans ; Genetic Association Studies ; Genome-Wide Association Study ; Canada ; Genome ; Genetic Predisposition to Disease

المؤلفون: Dilliott AA; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montréal, Quebec, Canada., Berberian SA; Dr. Sandra Black Centre for Brain Resilience and Recovery, LC Campbell Cognitive Neurology, Hurvitz Brain Sciences Program, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada., Sunderland KM; Rotman Research Institute, Baycrest Health Sciences, Toronto, Ontario, Canada., Binns MA; Rotman Research Institute, Baycrest Health Sciences, Toronto, Ontario, Canada.; Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada., Zimmer J; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montréal, Quebec, Canada., Ozzoude M; Dr. Sandra Black Centre for Brain Resilience and Recovery, LC Campbell Cognitive Neurology, Hurvitz Brain Sciences Program, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada.; Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada., Scott CJM; Dr. Sandra Black Centre for Brain Resilience and Recovery, LC Campbell Cognitive Neurology, Hurvitz Brain Sciences Program, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada., Gao F; Dr. Sandra Black Centre for Brain Resilience and Recovery, LC Campbell Cognitive Neurology, Hurvitz Brain Sciences Program, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada., Lang AE; Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Ontario, Canada., Breen DP; Centre for Clinical Brain Sciences, University of Edinburgh; Anne Rowling Regenerative Neurology Clinic, University of Edinburgh; Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK., Tartaglia MC; Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Ontario, Canada.; Division of Neurology, Toronto Western Hospital, University Health Network, Toronto, Ontario, Canada., Tan B; Rotman Research Institute, Baycrest Health Sciences, Toronto, Ontario, Canada., Swartz RH; Dr. Sandra Black Centre for Brain Resilience and Recovery, LC Campbell Cognitive Neurology, Hurvitz Brain Sciences Program, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada.; Department of Medicine (Neurology), Sunnybrook Health Sciences and University of Toronto, Ontario, Canada.; Heart and Stroke Foundation Canadian Partnership for Stroke Recovery, Hurvitz Brain Sciences Research Program, Sunnybrook Research Institute, Toronto, Ontario, Canada., Rogaeva E; Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada., Borrie M; Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.; St. Joseph's Healthcare Centre, London, Ontario, Canada., Finger E; Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Fischer CE; Keenan Research Centre for Biomedical Science, St. Michael's Hospital, Toronto, Ontario, Canada., Frank A; Department of Medicine (Neurology), University of Ottawa Brain and Mind Research Institute and Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Bruyère Research Institute, Ottawa, Ontario, Canada., Freedman M; Rotman Research Institute, Baycrest Health Sciences, Toronto, Ontario, Canada.; Department of Medicine (Neurology), Baycrest Health Sciences, Mt. Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Kumar S; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.; Adult Neurodevelopment and Geriatric Psychiatry, Centre for Addiction and Mental Health, Toronto, Ontario, Canada., Pasternak S; Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Pollock BG; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.; Adult Neurodevelopment and Geriatric Psychiatry, Centre for Addiction and Mental Health, Toronto, Ontario, Canada., Rajji TK; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.; Adult Neurodevelopment and Geriatric Psychiatry, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.; Toronto Dementia Research Alliance, University of Toronto, Toronto, Ontario, Canada., Tang-Wai DF; Department of Medicine (Neurology), Sunnybrook Health Sciences and University of Toronto, Ontario, Canada., Abrahao A; Department of Medicine (Neurology), Sunnybrook Health Sciences and University of Toronto, Ontario, Canada., Turnbull J; Division of Neurology, Department of Medicine, Hamilton Health Sciences, McMaster University, Hamilton, Canada., Zinman L; Department of Medicine (Neurology), Sunnybrook Health Sciences and University of Toronto, Ontario, Canada., Casaubon L; Department of Medicine (Neurology), Sunnybrook Health Sciences and University of Toronto, Ontario, Canada., Dowlatshahi D; Department of Medicine (Neurology), University of Ottawa Brain and Mind Research Institute and Ottawa Hospital Research Institute, Ottawa, Ontario, Canada., Hassan A; Thunder Bay Regional Health Research Institute, Thunder Bay, Ontario, Canada., Mandzia J; Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Sahlas D; Division of Neurology, Department of Medicine, Hamilton Health Sciences, McMaster University, Hamilton, Canada., Saposnik G; Li Ka Shing Knowledge Institute, St. Michael's Hospital, University of Toronto, Toronto, Ontario, Canada.; Division of Neurology, Department of Medicine, St. Michael's Hospital, University of Toronto, Toronto, Ontario, Canada., Grimes D; Department of Medicine (Neurology), University of Ottawa Brain and Mind Research Institute and Ottawa Hospital Research Institute, Ottawa, Ontario, Canada., Marras C; Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Ontario, Canada., Steeves T; Division of Neurology, Department of Medicine, St. Michael's Hospital, University of Toronto, Toronto, Ontario, Canada., Masellis M; Dr. Sandra Black Centre for Brain Resilience and Recovery, LC Campbell Cognitive Neurology, Hurvitz Brain Sciences Program, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada.; Department of Medicine (Neurology), Sunnybrook Health Sciences and University of Toronto, Ontario, Canada., Farhan SMK; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montréal, Quebec, Canada., Bartha R; Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Symons S; Department of Medical Imaging, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada., Hegele RA; Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Black SE; Dr. Sandra Black Centre for Brain Resilience and Recovery, LC Campbell Cognitive Neurology, Hurvitz Brain Sciences Program, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada.; Rotman Research Institute, Baycrest Health Sciences, Toronto, Ontario, Canada.; Department of Medicine (Neurology), Sunnybrook Health Sciences and University of Toronto, Ontario, Canada.; Heart and Stroke Foundation Canadian Partnership for Stroke Recovery, Hurvitz Brain Sciences Research Program, Sunnybrook Research Institute, Toronto, Ontario, Canada., Ramirez J; Dr. Sandra Black Centre for Brain Resilience and Recovery, LC Campbell Cognitive Neurology, Hurvitz Brain Sciences Program, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada.

مؤلفون مشاركون: ONDRI Investigators

المصدر: Alzheimer's & dementia : the journal of the Alzheimer's Association [Alzheimers Dement] 2023 Dec; Vol. 19 (12), pp. 5583-5595. Date of Electronic Publication: 2023 Jun 05.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: John Wiley & Sons, Ltd Country of Publication: United States NLM ID: 101231978 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-5279 (Electronic) Linking ISSN: 15525260 NLM ISO Abbreviation: Alzheimers Dement Subsets: MEDLINE

مواضيع طبية MeSH: Neurodegenerative Diseases*/diagnostic imaging , Neurodegenerative Diseases*/genetics , Cerebral Small Vessel Diseases*/pathology , Cognitive Dysfunction*, Humans ; Magnetic Resonance Imaging

المؤلفون: Dilliott AA; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 0G4, Canada.; Montreal Neurological Institute-Hospital, McGill University, Montreal, Quebec H3A 2B4, Canada., Kwon S; The Center for the Development of Therapeutics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Rouleau GA; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 0G4, Canada.; Montreal Neurological Institute-Hospital, McGill University, Montreal, Quebec H3A 2B4, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Iqbal S; The Center for the Development of Therapeutics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA., Farhan SMK; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 0G4, Canada.; Montreal Neurological Institute-Hospital, McGill University, Montreal, Quebec H3A 2B4, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

المصدر: Brain : a journal of neurology [Brain] 2023 Nov 02; Vol. 146 (11), pp. 4608-4621.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis*/genetics, Humans ; Transcriptome/genetics ; Proteomics ; Mutation, Missense/genetics ; Genetic Testing

المؤلفون: Dilliott AA; Department of Neurology and Neurosurgery, McGill University, Montreal, Canada., Al Nasser A; Schulich School of Medicine and Dentistry, Western University, London, Canada., Elnagheeb M; Department of Genetics, University of North Carolina, Chapel Hill, NC, USA., Fifita J; Centre for MND Research, Macquarie Medical School, Macquarie University, Sydney, Australia., Henden L; Centre for MND Research, Macquarie Medical School, Macquarie University, Sydney, Australia., Keseler IM; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA., Lenz S; PreventionGenetics, Marshfield, WI, USA., Marriott H; Department of Basic and Clinical Neuroscience, King's College London, London, UK., Mccann E; Centre for MND Research, Macquarie Medical School, Macquarie University, Sydney, Australia., Mesaros M; Medical University of South Carolina, Charleston, SC, USA., Opie-Martin S; Department of Basic and Clinical Neuroscience, King's College London, London, UK., Owens E; Department of Genetics, University of North Carolina, Chapel Hill, NC, USA., Palus B; Department of Genetics, University of North Carolina, Chapel Hill, NC, USA., Ross J; Department of Genetics, University of North Carolina, Chapel Hill, NC, USA., Wang Z; Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China., White H; Invitae, San Francisco, CA, USA., Al-Chalabi A; Department of Basic and Clinical Neuroscience, King's College London, London, UK., Andersen PM; Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden., Benatar M; Department of Neurology, University of Miami, Miami, FL, USA., Blair I; Centre for MND Research, Macquarie Medical School, Macquarie University, Sydney, Australia., Cooper-Knock J; Department of Neuroscience, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Harrington EA; Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons, New York City, NY, USA., Heckmann J; Division of Neurology, University of Cape Town, Cape Town, South Africa., Landers J; Department of Neurology, University of Massachusetts Amherst, Amherst, MA, USA., Moreno C; Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil., Nel M; Division of Neurology, University of Cape Town, Cape Town, South Africa., Rampersaud E; Center for Applied Bioinformatics, St. Jude's Children's Hospital, Memphis, TN, USA., Roggenbuck J; Department of Internal Medicine, Ohio State University, Columbus, OH, USA., Rouleau G; Department of Neurology and Neurosurgery, McGill University, Montreal, Canada.; Department of Genetics, Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada.; Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada., Traynor B; Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA., Van Blitterswijk M; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Van Rheenen W; Department of Neurology, University Medical Center Utrecht Brain Center, Utrecht, The Netherlands, and., Veldink J; Department of Neurology, University Medical Center Utrecht Brain Center, Utrecht, The Netherlands, and., Weishaupt J; Department of Neurology, Heidelberg University, Heidelberg, Germany., Drury L; PreventionGenetics, Marshfield, WI, USA., Harms MB; Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons, New York City, NY, USA., Farhan SMK; Department of Genetics, Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada.; Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada.

مؤلفون مشاركون: Amyotrophic lateral sclerosis spectrum disorders Gene Curation Expert Panel

المصدر: Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2023 Aug; Vol. 24 (5-6), pp. 420-435. Date of Electronic Publication: 2023 Mar 10.

نوع المنشور: Review; Journal Article; Research Support, U.S. Gov't, P.H.S.; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 101587185 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2167-9223 (Electronic) Linking ISSN: 21678421 NLM ISO Abbreviation: Amyotroph Lateral Scler Frontotemporal Degener Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis*/diagnosis , Amyotrophic Lateral Sclerosis*/genetics, Humans ; Mutation ; Genetic Testing/methods ; C9orf72 Protein/genetics