Clinical and neuropathological features of ALS/FTD with TIA1 mutations

Autor: Sa. Zivkovic, David Lacomis, G-Yr. Hsiung, Charles Krieger, Rosa Rademakers, Cyril Pottier, D. W. Dickson, Julia Keith, M.-Marsel Mesulam, Eileen H. Bigio, Lorne Zinman, Veronica Hirsch-Reinshagen, Am. Nicholson, Kb. Boylan, Ir. Mackenzie, Matthew L. Baker, Patrick T. Taylor, Sandra Weintraub, Ekaterina Rogaeva

Publikováno v: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 45:S5-S5

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) represent a disease continuum with common genetic causes and molecular pathology. We recently identified mutations in the T-cell restricted intracellular antigen-1 (TIA1) protein a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::45f4e94f3723dc671470e3b9fef9029f
https://doi.org/10.1017/cjn.2018.48

Accumulation of TMEM106B C-terminal fragments in Niemann-Pick type C disease.

Autor: Azaria RD; Department of Pathology, University of Michigan Medical School, Ann Arbor, MI, United States., Ferris SP; Department of Pathology, University of Michigan Medical School, Ann Arbor, MI, United States., Tashjian RS; Department of Pathology, University of Michigan Medical School, Ann Arbor, MI, United States., Perneel J; VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Van den Broeck M; VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Mackenzie IR; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada., Berry-Kravis E; Department of Pediatrics, Neurological Sciences, Anatomy, and Cell Biology, Rush University Medical Center, Chicago, IL, United States., Rademakers R; VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Lieberman AP; Department of Pathology, University of Michigan Medical School, Ann Arbor, MI, United States.

Publikováno v: Journal of neuropathology and experimental neurology [J Neuropathol Exp Neurol] 2024 Nov 01; Vol. 83 (11), pp. 984-986.

Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia.

Autor: Manzoni C; UCL School of Pharmacy, London, UK. Electronic address: c.manzoni@ucl.ac.uk., Kia DA; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK., Ferrari R; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK., Leonenko G; Division of Psychological Medicine and Clinical Neurosciences, UK Dementia Research Institute, School of Medicine, Cardiff University, Cardiff, UK., Costa B; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK., Saba V; Medical and Genomic Statistics Unit, Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Jabbari E; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK., Tan MM; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK; Department of Neurology, Oslo University Hospital, Oslo, Norway., Albani D; Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milano, Italy., Alvarez V; Hospital Universitario Central de Asturias, Oviedo, Spain; Instituto de Investigación Sanitaria del Principado de Asturias, Oviedo, Spain., Alvarez I; Memory Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Terrassa, Barcelona, Spain; Fundació Docència i Recerca MútuaTerrassa, Terrassa, Barcelona, Spain., Andreassen OA; NORMENT Centre, Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway., Angiolillo A; Centre for Research and Training in Medicine of Aging, Department of Medicine and Health Science 'V. Tiberio,' University of Molise, Campobasso, Italy., Arighi A; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Baker M; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA., Benussi L; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy., Bessi V; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy., Binetti G; MAC-Memory Clinic and Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy., Blackburn DJ; University of Sheffield, Sheffield, UK., Boada M; Research Center and Memory Clinic. Ace Alzheimer Center Barcelona - Universitat Internacional de Catalunya, Barcelona, Spain; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain., Boeve BF; Department of Neurology, Mayo Clinic Rochester, Rochester, MN, USA., Borrego-Ecija S; Alzheimer's Disease and Other Cognitive Disorders Unit, Service of Neurology. Hospital Clínic de Barcelona, Fundació Clínic Barcelona-IDIBAPS, Barcelona, Spain., Borroni B; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Bråthen G; Department of Neurology and Clinical Neurophysiology, University Hospital of Trondheim, Trondheim, Norway; Department of Neuromedicine and Movement Science, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway., Brooks WS; Neuroscience Research Australia, and Randwick Clinical Campus, UNSW Medicine and Health, University of New South Wales, Sydney, Australia., Bruni AC; Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy., Caroppo P; Unit of Neurology (V) and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Bandres-Ciga S; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Clarimon J; Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain., Colao R; Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy., Cruchaga C; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA; NeuroGenomics and Informatics Center, Washington University School of Medicine, St. Louis, MO, USA., Danek A; Neurologische Klinik, LMU Klinikum, Munich, Germany., de Boer SC; Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands; Amsterdam Neuroscience, Neurodegeneration, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands; Brain and Mind Centre, University of Sydney, Sydney, NSW, Australia., de Rojas I; Research Center and Memory Clinic. Ace Alzheimer Center Barcelona - Universitat Internacional de Catalunya, Barcelona, Spain; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain., di Costanzo A; Centre for Research and Training in Medicine of Aging, Department of Medicine and Health Science 'V. Tiberio,' University of Molise, Campobasso, Italy., Dickson DW; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA., Diehl-Schmid J; Department of Psychiatry and Psychotherapy, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany; kbo-Inn-Salzach-Klinikum, Wasserburg, Germany., Dobson-Stone C; Brain and Mind Centre, University of Sydney, Sydney, NSW, Australia; School of Medical Sciences, University of Sydney, Sydney, NSW, Australia., Dols-Icardo O; Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain., Donizetti A; Department of Biology, University of Naples Federico II, Naples, Italy., Dopper E; Department of Neurology & Alzheimer Center, Erasmus University Medical Center, Rotterdam, the Netherlands., Durante E; Immunohematology and Transfusional Medicine Service, Local Health Authority n.2 Marca Trevigiana, Treviso, Italy., Ferrari C; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy., Forloni G; Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milano, Italy., Frangipane F; Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy., Fratiglioni L; Karolinska Institutet, Department NVS, KI-Alzheimer Disease Research Center, Stockholm, Sweden; Theme Inflammation and Aging, Karolinska Universtiy Hospital, Stockholm, Sweden., Kramberger MG; Department of Neurology, University Medical Center, Medical faculty, Ljubljana University of Ljubljana, Ljubljana, Slovenia; Karolinska Institutet, Department of Neurobiology, Care Sciences and Society (NVS), Division of Clinical Geriatrics, Huddinge, Sweden., Galimberti D; Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Gallucci M; Cognitive Impairment Center, Local Health Authority n.2 Marca Trevigiana, Treviso, Italy., García-González P; Research Center and Memory Clinic. Ace Alzheimer Center Barcelona - Universitat Internacional de Catalunya, Barcelona, Spain; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain., Ghidoni R; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy., Giaccone G; Unit of Neurology (V) and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Graff C; Karolinska Institutet, Department NVS, KI-Alzheimer Disease Research Center, Stockholm, Sweden; Unit for hereditary dementia, Karolinska Universtiy Hospital-Solna, Stockholm, Sweden., Graff-Radford NR; Department of Neurology, Mayo Clinic Jacksonville, Jacksonville, FL, USA., Grafman J; Shirley Ryan AbilityLab, Chicago, IL, USA., Halliday GM; Brain and Mind Centre, University of Sydney, Sydney, NSW, Australia; School of Medical Sciences, University of Sydney, Sydney, NSW, Australia., Hernandez DG; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA., Hjermind LE; Neurogenetics Clinic & Research Lab, Danish Dementia Research Centre, Copenhagen University Hospital, Copenhagen, Denmark., Hodges JR; Brain and Mind Centre, University of Sydney, Sydney, NSW, Australia., Holloway G; Anne Rowling Regenerative Neurology Clinic, University of Edinburgh, Edinburgh, UK., Huey ED; Bio Med Psychiatry & Human Behavior, Brown University, Providence, RI, USA., Illán-Gala I; Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain., Josephs KA; Department of Neurology, Mayo Clinic Rochester, Rochester, MN, USA., Knopman DS; Department of Neurology, Mayo Clinic Rochester, Rochester, MN, USA., Kristiansen M; UCL Genomics, London, UK; UCL Great Ormond Street Institute of Child Health, London, UK; Zayed Centre for Research into Rare Disease in Children, London, UK., Kwok JB; Brain and Mind Centre, University of Sydney, Sydney, NSW, Australia; School of Medical Sciences, University of Sydney, Sydney, NSW, Australia., Leber I; Sorbonne Université, INSERM U1127, CNRS 7225, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Leonard HL; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Data Tecnica International LLC, Washington, DC, USA; DZNE Tübingen, Tübingen, Germany., Libri I; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Lleo A; Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain., Mackenzie IR; Department of Pathology, University of British Columbia, Vancouver, Canada; Department of Pathology, Vancouver Coastal Health, Vancouver, Canada., Madhan GK; UCL Genomics, London, UK; UCL Great Ormond Street Institute of Child Health, London, UK; Zayed Centre for Research into Rare Disease in Children, London, UK., Maletta R; Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy., Marquié M; Research Center and Memory Clinic. Ace Alzheimer Center Barcelona - Universitat Internacional de Catalunya, Barcelona, Spain; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain., Maver A; Clinical institute of Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenija., Menendez-Gonzalez M; Hospital Universitario Central de Asturias, Oviedo, Spain; Instituto de Investigación Sanitaria del Principado de Asturias, Oviedo, Spain; Universidad de Oviedo, Medicine Department, Oviedo, Spain., Milan G; Geriatric Center 'Frullone' ASL NA1, Naples, Italy., Miller BL; Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Global Brain Health Institute, University of California, San Francisco, San Francisco, CA, USA; Trinity College Dublin, Dublin, Ireland., Morris CM; Newcastle Brain Tissue Resource, Newcastle University, Edwardson Building, Nuns Moor Road, Newcastle upon Tyne, UK., Morris HR; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK., Nacmias B; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy; IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy., Newton J; Anne Rowling Regenerative Neurology Clinic, University of Edinburgh, Edinburgh, UK., Nielsen JE; Neurogenetics Clinic & Research Lab, Danish Dementia Research Centre, Copenhagen University Hospital, Copenhagen, Denmark., Nilsson C; Department of Clinical Sciences, Neurology, Lund University, Lund/Malmö, Sweden., Novelli V; Centro Cardiologico Monzino IRCCS, Milan, Italy., Padovani A; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Pal S; Anne Rowling Regenerative Neurology Clinic, University of Edinburgh, Edinburgh, UK., Pasquier F; University of Lille, Lille, France; CHU Lille, Lille, France; Inserm, Labex DISTALZ, LiCEND, Lille, France., Pastor P; Unit of Neurodegenerative Diseases, Department of Neurology, University Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain; The Germans Trias i Pujol Research Institute (IGTP) Badalona, Barcelona, Spain., Perneczky R; Department of Psychiatry and Psychotherapy, LMU Hospital, Ludwig-Maximilians-Universität Munich, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE) Munich, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; Ageing Epidemiology (AGE) Research Unit, School of Public Health, Imperial College London, London, UK; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Peterlin B; Clinical institute of Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenija., Petersen RC; Department of Neurology, Mayo Clinic Rochester, Rochester, MN, USA., Piguet O; Brain and Mind Centre, University of Sydney, Sydney, NSW, Australia; School of Psychology, University of Sydney, Sydney, NSW, Australia., Pijnenburg YA; Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands; Amsterdam Neuroscience, Neurodegeneration, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands., Puca AA; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana,' University of Salerno, Fisciano, Italy; Cardiovascular Research Unit, IRCCS MultiMedica, Milan, Italy., Rademakers R; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA; VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Rainero I; Department of Neuroscience, 'Rita Levi Montalcini,' University of Torino, Torino, Italy; Center for Alzheimer's Disease and Related Dementias, Department of Neuroscience and Mental Health, A.O.UCittà della Salute e della Scienza di Torino, Torino, Italy., Reus LM; Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA; Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands; Amsterdam Neuroscience, Neurodegeneration, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands., Richardson AM; Manchester Centre for Clinical Neurosciences, Northern Care Alliance NHS Trust, Manchester Academic Health Sciences Unit, University of Manchester, Manchester, UK., Riemenschneider M; Department of Psychiatry, Saarland University, Homburg, Germany., Rogaeva E; Tanz Centre for Research in Neurodegenerative Diseases and Department of Medicine, University of Toronto, Toronto, ON, Canada., Rogelj B; Department of Biotechnology, Jožef Stefan Institute, Ljubljana, Slovenia; Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia., Rollinson S; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, University of Manchester, Manchester, UK., Rosen H; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA., Rossi G; Unit of Neurology (V) and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Rowe JB; University of Cambridge Department of Clinical Neurosciences and Cambridge University Hospitals NHS Trust, Cambridge, UK., Rubino E; Department of Neuroscience, 'Rita Levi Montalcini,' University of Torino, Torino, Italy; Center for Alzheimer's Disease and Related Dementias, Department of Neuroscience and Mental Health, A.O.UCittà della Salute e della Scienza di Torino, Torino, Italy., Ruiz A; Research Center and Memory Clinic. Ace Alzheimer Center Barcelona - Universitat Internacional de Catalunya, Barcelona, Spain; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain., Salvi E; Unit of Neuroalgologia (III), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; Data science center, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Sanchez-Valle R; Alzheimer's Disease and Other Cognitive Disorders Unit, Service of Neurology. Hospital Clínic de Barcelona, Fundació Clínic Barcelona-IDIBAPS, Barcelona, Spain., Sando SB; Department of Neurology and Clinical Neurophysiology, University Hospital of Trondheim, Trondheim, Norway; Department of Neuromedicine and Movement Science, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway., Santillo AF; Department of Clinical Sciences, Clinical Memory Research Unit, Faculty of Medicine, Lund University, Lund/Malmö, Sweden., Saxon JA; Manchester Centre for Clinical Neurosciences, Northern Care Alliance NHS Trust, Manchester Academic Health Sciences Unit, University of Manchester, Manchester, UK., Schlachetzki JC; Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA, 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., Seelaar H; Department of Neurology & Alzheimer Center, Erasmus University Medical Center, Rotterdam, the Netherlands., Seeley WW; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA., Serpente M; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Sorbi S; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy; IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy., Sordon S; Department of Psychiatry, Saarland University, Homburg, Germany., St George-Hyslop P; Tanz Centre for Research in Neurodegenerative Diseases and Department of Medicine, University of Toronto, Toronto, ON, Canada; Department of Neurology, Columbia University, New York, NY, USA., Thompson JC; Manchester Centre for Clinical Neurosciences, Northern Care Alliance NHS Trust, Manchester Academic Health Sciences Unit, University of Manchester, Manchester, UK; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, University of Manchester, Manchester, UK., Van Broeckhoven C; Neurodegenerative Brain Diseases, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Van Deerlin VM; Perelman School of Medicine at the University of Pennsylvania, Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Philadelphia, PA, USA., Van der Lee SJ; Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands; Amsterdam Neuroscience, Neurodegeneration, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands; Section Genomics of Neurodegenerative Diseases and Aging, Department of Clinical Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands., Van Swieten J; Department of Neurology & Alzheimer Center, Erasmus University Medical Center, Rotterdam, the Netherlands., Tagliavini F; Unit of Neurology (V) and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., van der Zee J; Neurodegenerative Brain Diseases, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Veronesi A; Immunohematology and Transfusional Medicine Service, Local Health Authority n.2 Marca Trevigiana, Treviso, Italy., Vitale E; Institute of Biochemistry and Cell Biology, National Research Council (CNR), Naples, Italy; School of Integrative Science and Technology Department of Biology Kean University, Union, NJ, USA., Waldo ML; Clinical Sciences Helsingborg, Department of Clinical Sciences, Lund University, Lund, Sweden., Yokoyama JS; Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, USA; Global Brain Health Institute, University of California, San Francisco, San Francisco, CA, USA; Trinity College Dublin, Dublin, Ireland., Nalls MA; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Data Tecnica International LLC, Washington, DC, USA., Momeni P; Rona Holdings, Cupertino, CA, USA., Singleton AB; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA., Hardy J; UK Dementia Research Institute at UCL and Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, London, UK; NIHR University College London Hospitals Biomedical Research Centre, London, UK; Institute for Advanced Study, The Hong Kong University of Science and Technology, Hong Kong SAR, China., Escott-Price V; Division of Psychological Medicine and Clinical Neurosciences, UK Dementia Research Institute, School of Medicine, Cardiff University, Cardiff, UK. Electronic address: escottpricev@cardiff.ac.uk.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Jul 11; Vol. 111 (7), pp. 1316-1329. Date of Electronic Publication: 2024 Jun 17.

Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing.

Autor: Pottier C, Küçükali F, Baker M, Batzler A, Jenkins GD, van Blitterswijk M, Vicente CT, De Coster W, Wynants S, Van de Walle P, Ross OA, Murray ME, Faura J, Haggarty SJ, van Rooij JG, Mol MO, Hsiung GR, Graff C, Öijerstedt L, Neumann M, Asmann Y, McDonnell SK, Baheti S, Josephs KA, Whitwell JL, Bieniek KF, Forsberg L, Heuer H, Lago AL, Geier EG, Yokoyama JS, Oddi AP, Flanagan M, Mao Q, Hodges JR, Kwok JB, Domoto-Reilly K, Synofzik M, Wilke C, Onyike C, Dickerson BC, Evers BM, Dugger BN, Munoz DG, Keith J, Zinman L, Rogaeva E, Suh E, Gefen T, Geula C, Weintraub S, Diehl-Schmid J, Farlow MR, Edbauer D, Woodruff BK, Caselli RJ, Donker Kaat LL, Huey ED, Reiman EM, Mead S, King A, Roeber S, Nana AL, Ertekin-Taner N, Knopman DS, Petersen RC, Petrucelli L, Uitti RJ, Wszolek ZK, Ramos EM, Grinberg LT, Gorno Tempini ML, Rosen HJ, Spina S, Piguet O, Grossman M, Trojanowski JQ, Keene DC, Lee-Way J, Prudlo J, Geschwind DH, Rissman RA, Cruchaga C, Ghetti B, Halliday GM, Beach TG, Serrano GE, Arzberger T, Herms J, Boxer AL, Honig LS, Vonsattel JP, Lopez OL, Kofler J, White CL, Gearing M, Glass J, Rohrer JD, Irwin DJ, Lee EB, Van Deerlin V, Castellani R, Mesulam MM, Tartaglia MC, Finger EC, Troakes C, Al-Sarraj S, Miller BL, Seelaar H, Graff-Radford NR, Boeve BF, Mackenzie IR, van Swieten JC, Seeley WW, Sleegers K, Dickson DW, Biernacka JM, Rademakers R

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jun 25. Date of Electronic Publication: 2024 Jun 25.

MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study.

Autor: Valentino RR; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Scotton WJ; Dementia Research Centre, Department of Neurodegenerative Disease, University College London, Queen Square Institute of Neurology, London, UK. Electronic address: w.scotton@ucl.ac.uk., Roemer SF; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Lashley T; Queen Square Brain Bank for Neurological Disorders, University College London, Queen Square Institute of Neurology London, UK; Department of Neurodegenerative Disease, University College London, Queen Square Institute of Neurology London, UK., Heckman MG; Division of Clinical Trials and Biostatistics, Mayo Clinic, Jacksonville, FL, USA., Shoai M; Department of Neurodegenerative Disease, University College London, Queen Square Institute of Neurology London, UK., Martinez-Carrasco A; Department of Clinical and Movement Neurosciences, University College London, Queen Square Institute of Neurology London, UK., Tamvaka N; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Walton RL; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Baker MC; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Macpherson HL; Department of Neurodegenerative Disease, University College London, Queen Square Institute of Neurology London, UK., Real R; Department of Clinical and Movement Neurosciences, University College London, Queen Square Institute of Neurology London, UK., Soto-Beasley AI; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Mok K; Department of Neurodegenerative Disease, University College London, Queen Square Institute of Neurology London, UK; UK Dementia Research Institute at UCL, London, UK; Division of Life Science, State Key Laboratory of Molecular Neuroscience, Molecular Neuroscience Center, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; Hong Kong Center for Neurodegenerative Diseases, Hong Kong Science Park, Hong Kong, China., Revesz T; Queen Square Brain Bank for Neurological Disorders, University College London, Queen Square Institute of Neurology London, UK; Department of Neurodegenerative Disease, University College London, Queen Square Institute of Neurology London, UK., Christopher EA; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., DeTure M; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Seeley WW; Department of Neurology, Memory and Aging Center, University of California San Francisco, San Francisco, CA, USA., Lee EB; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Frosch MP; Neuropathology Service, C S Kubik Laboratory for Neuropathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Molina-Porcel L; Neurological Tissue Bank, Biobanc-Hospital Clínic-Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain; Alzheimer's Disease and other Cognitive Disorders Unit, Neurology Department, Hospital Clinic, Barcelona, Spain; Barcelona Clinical Research Foundation-August Pi i Sunyer Biomedical Research Institute, Barcelona, Spain., Gefen T; Mesulam Center for Cognitive Neurology and Alzheimer's Disease, Northwestern University Feinberg School of Medicine, Chicago, IL, USA; Department of Psychiatry and Behavioral Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Redding-Ochoa J; Johns Hopkins School of Medicine, Baltimore, MD, USA., Ghetti B; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA., Robinson AC; Division of Neuroscience, Faculty of Biology, Medicine and Health, School of Biological Sciences, The University of Manchester, Salford Royal Hospital, Salford, UK; Geoffrey Jefferson Brain Research Centre, Manchester Academic Health Science Centre, Manchester, UK., Kobylecki C; Department of Neurology, Manchester Centre for Clinical Neurosciences, Northern Care Alliance NHS Foundation Trust, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK; Division of Neuroscience, School of Biological Sciences, University of Manchester, Manchester, UK., Rowe JB; Cambridge University Department of Clinical Neurosciences and Cambridge University Hospitals NHS Trust, Cambridge, UK; Medical Research Council Cognition and Brain Sciences Unit, Cambridge, UK., Beach TG; Civin Laboratory of Neuropathology, Banner Sun Health Research Institute, Sun City, AZ, USA., Teich AF; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY, USA., Keith JL; Laboratory Medicine and Molecular Diagnostics, Sunnybrook Health Sciences Centre, and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada., Bodi I; Clinical Neuropathology Department, King's College Hospital NHS Foundation Trust, London, UK; London Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Halliday GM; University of Sydney Brain and Mind Centre and Faculty of Medicine and Health School of Medical Sciences, Camperdown, NSW, Australia., Gearing M; Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA, USA; Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA; Goizueta Alzheimer's Disease Center Brain Bank, Emory University School of Medicine, Atlanta, GA, USA., Arzberger T; Department of Psychiatry and Psychotherapy, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany., Morris CM; Newcastle Brain Tissue Resource, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., White CL 3rd; University of Texas Southwestern Medical Center, Dallas, TX, USA., Mechawar N; Douglas Hospital Research Centre, McGill University, Montreal, QC, Canada., Boluda S; Laboratoire de Neuropathologie Escourolle, Hôpital de la Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France; Alzheimer Prion Team, L'Institut du Cerveau, Paris, France., MacKenzie IR; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada., McLean C; Department of Anatomical Pathology Alfred Heath, Melbourne, VIC, Australia; Victorian Brain Bank, The Florey Institute of Neuroscience of Mental Health, Parkville, VIC, Australia., Cykowski MD; Department of Pathology and Genomic Medicine, Houston Methodist Research Institute and Weill Cornell Medicine, Houston, TX, USA., Wang SJ; Department of Neurology, Duke University Medical Center, Durham, NC, USA., Graff C; Division for Neurogeriatrics, Centre for Alzheimer Research, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden; Unit for Hereditary Dementias, Karolinska University Hospital Solna, Stockholm, Sweden., Nagra RM; Human Brain and Spinal Fluid Resource Center, Brentwood Biomedical Research Institute, Los Angeles, CA, USA., Kovacs GG; Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada; Laboratory Medicine Program and Krembil Brain Institute, University Health Network, Toronto, ON, Canada., Giaccone G; Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan, Italy., Neumann M; Molecular Neuropathology of Neurodegenerative Diseases, German Center for Neurodegenerative Diseases, Tübingen, Germany; Department of Neuropathology, University Hospital of Tübingen, Tübingen, Germany., Ang LC; Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON, Canada; Schulich School of Medicine and Dentistry, Western University, London, ON, Canada., Carvalho A; Life and Health Sciences Research Institute, School of Medicine, University of Minho, Braga, Portugal; ICVS/3B's-PT Government Associate Laboratory, Braga/Guimarães, Portugal., Morris HR; Department of Clinical and Movement Neurosciences, University College London, Queen Square Institute of Neurology London, UK., Rademakers R; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Vlaams Instituut voor Biotechnologie-Universiteit Antwerpen, Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium., Hardy JA; Department of Neurodegenerative Disease, University College London, Queen Square Institute of Neurology London, UK; Reta Lila Weston Institute, University College London, Queen Square Institute of Neurology London, UK; UK Dementia Research Institute at UCL, London, UK; Institute for Advanced Study, The Hong Kong University of Science and Technology, Hong Kong, China., Dickson DW; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Rohrer JD; Dementia Research Centre, Department of Neurodegenerative Disease, University College London, Queen Square Institute of Neurology, London, UK., Ross OA; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA. Electronic address: ross.owen@mayo.edu.

Publikováno v: The Lancet. Neurology [Lancet Neurol] 2024 May; Vol. 23 (5), pp. 487-499.