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Tytuł:
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
Autorzy:
Swift IJ; Department of Neurodegenerative Disease, Dementia Research Institute, UCL Institute of Neurology, Queen Square, London, UK.; Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Rademakers R; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.; VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Finch N; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Baker M; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Ghidoni R; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni Di Dio Fatebenefratelli, Brescia, Italy.
Benussi L; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni Di Dio Fatebenefratelli, Brescia, Italy.
Binetti G; MAC-Memory Clinic and Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni Di Dio Fatebenefratelli, Brescia, Italy.
Rossi G; Unit of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Synofzik M; Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Wilke C; Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Mengel D; Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Graff C; Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Division of Neurogeriatrics, BioclinicumKarolinska Institutet, Solna, Sweden.; Unit for Hereditary Dementias, Theme Inflammation and Aging, Karolinska University Hospital, Solna, Sweden.
Takada LT; Department of Neurology, Hospital das Clinicas, University of São Paulo Medical School, São Paulo, Brazil.
Sánchez-Valle R; Alzheimer's Disease and Other Cognitive Disorders Unit, FRCB-IDIBAPS, Institut de Neurociències, Neurology Service, Hospital Clínic de Barcelona, Universitat de Barcelona (UB), 08036, Barcelona, Spain.
Antonell A; Alzheimer's Disease and Other Cognitive Disorders Unit, FRCB-IDIBAPS, Institut de Neurociències, Neurology Service, Hospital Clínic de Barcelona, Universitat de Barcelona (UB), 08036, Barcelona, Spain.
Galimberti D; Dept. of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy.; Neurodegerative Diseases Center, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Fenoglio C; Dept. of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy.; Neurodegerative Diseases Center, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Serpente M; Neurodegerative Diseases Center, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Arcaro M; Neurodegerative Diseases Center, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Schreiber S; Department of Neurology, Otto Von Guericke University, Magdeburg, Germany.
Vielhaber S; Department of Neurology, Otto Von Guericke University, Magdeburg, Germany.
Arndt P; Department of Neurology, Otto Von Guericke University, Magdeburg, Germany.
Santana I; Neurology Department, Centro Hospitalar E Universitário de Coimbra, Coimbra, Portugal.; Center for Neuroscience and Cell Biology, Centre for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal.; Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Almeida MR; Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Moreno F; Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, San Sebastian, Gipuzkoa, Spain.; Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain.
Barandiaran M; Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, San Sebastian, Gipuzkoa, Spain.; Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain.
Gabilondo A; Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, San Sebastian, Gipuzkoa, Spain.; Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain.
Stubert J; Department of Obstetrics and Gynecology, Rostock University Medical Center, Rostock, Germany.
Gómez-Tortosa E; Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain.
Agüero P; Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain.
Sainz MJ; Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain.
Gohda T; Department of Nephrology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Murakoshi M; Department of Nephrology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Kamei N; Department of Endocrinology and Metabolism, Hiroshima Red Cross Hospital & Atomicbomb Survivors Hospital, Hiroshima, Japan.; Institute for Clinical Research, National Hospital Organization, Kure Medical Center and Chugoku Cancer Center, Hiroshima, Japan.
Kittel-Schneider S; Department of Psychiatry, University College Cork, Cork, Ireland.; Department of Psychiatry, Psychotherapy and Psychosomatic Medicine, University Hospital Würzburg, Würzburg, Germany.
Reif A; Department of Psychiatry, Psychotherapy and Psychosomatic Medicine, University Hospital Frankfurt, Frankfurt, Germany.
Weigl J; Department of Psychiatry, Psychotherapy and Psychosomatic Medicine, University Hospital Würzburg, Würzburg, Germany.; Department of Psychiatry, Hospital in Tauberbischofsheim, Tauberbischofsheim, Germany.
Jian J; University of Pennsylvania, Gene Therapy Program, Philadelphia, USA.
Liu C; Department of Orthopaedics & Rehabilitation, Yale University School of Medicine, New Haven, CT, USA.
Serrero G; A&G Pharmaceutical Inc, Columbia, MD, USA.; Program in Oncology, University of Maryland Greenebaum Comprehensive Cancer Center, Baltimore, MD, USA.
Greither T; Center for Reproductive Medicine and Andrology, Martin Luther University Halle-Wittenberg, Halle, Germany.
Theil G; Department of Urology, Martin Luther University Halle-Wittenberg, Halle, Germany.
Lohmann E; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany.
Gazzina S; Department of Neurological and Vision Sciences, Neurophysiology Unit, ASST SpedaliCivili, Brescia, Italy.
Bagnoli S; Department of Neurological and Psychiatric Sciences, University of Florence, Viale Morgagni, 85, 50134, Florence, Italy.
Coppola G; Department of Neurology, University of California, Los Angeles, California, USA.; Department of Psychiatry Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California, USA.
Bruni A; Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
Quante M; Department of Neonatology, Tuebingen University Hospital, Tuebingen, Germany.
Kiess W; Leipzig Research Center for Civilization Diseases - LIFE, University of Leipzig, Leipzig, Germany.; Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.; Center of Pediatric Research (CPL), University of Leipzig, Leipzig, Germany.
Hiemisch A; Leipzig Research Center for Civilization Diseases - LIFE, University of Leipzig, Leipzig, Germany.; Center of Pediatric Research (CPL), University of Leipzig, Leipzig, Germany.
Jurkutat A; Leipzig Research Center for Civilization Diseases - LIFE, University of Leipzig, Leipzig, Germany.
Block MS; Department of Oncology, Mayo Clinic, Rochester, MN, USA.
Carlson AM; Department of Neurology, University of Colorado Anschutz Medical Campus, Denver, CO, USA.
Bråthen G; Department of Neurology and Clinical Neurophysiology, Trondheim University Hospital, Trondheim, Norway.; Department of Neuromedicine and Movement Science, Faculty of Medicine and Health Sciences, NTNU. , Trondheim, Norway.
Sando SB; Department of Neurology and Clinical Neurophysiology, Trondheim University Hospital, Trondheim, Norway.; Department of Neuromedicine and Movement Science, Faculty of Medicine and Health Sciences, NTNU. , Trondheim, Norway.
Grøntvedt GR; Department of Neurology and Clinical Neurophysiology, Trondheim University Hospital, Trondheim, Norway.; Department of Neuromedicine and Movement Science, Faculty of Medicine and Health Sciences, NTNU. , Trondheim, Norway.
Lauridsen C; Department of Research, Trondheim University Hospital, Trondheim, Norway.
Heslegrave A; Department of Neurodegenerative Disease, Dementia Research Institute, UCL Institute of Neurology, Queen Square, London, UK.
Heller C; Department of Neurodegenerative Disease, Dementia Research Institute, UCL Institute of Neurology, Queen Square, London, UK.; Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Abel E; Department of Neurodegenerative Disease, Dementia Research Institute, UCL Institute of Neurology, Queen Square, London, UK.
Gómez-Núñez A; Alzheimer's Disease and Other Cognitive Disorders Unit, FRCB-IDIBAPS, Institut de Neurociències, Neurology Service, Hospital Clínic de Barcelona, Universitat de Barcelona (UB), 08036, Barcelona, Spain.
Puey R; Alzheimer's Disease and Other Cognitive Disorders Unit, FRCB-IDIBAPS, Institut de Neurociències, Neurology Service, Hospital Clínic de Barcelona, Universitat de Barcelona (UB), 08036, Barcelona, Spain.
Arighi A; Neurodegerative Diseases Center, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Rotondo E; Neurodegerative Diseases Center, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Jiskoot LC; Department of Neurology and Alzheimer Center Erasmus MC, Erasmus MC University Medical Center, Rotterdam, Netherlands.
Meeter LHH; Department of Neurology and Alzheimer Center Erasmus MC, Erasmus MC University Medical Center, Rotterdam, Netherlands.
Durães J; Neurology Department, Centro Hospitalar E Universitário de Coimbra, Coimbra, Portugal.
Lima M; Neurology Department, Centro Hospitalar E Universitário de Coimbra, Coimbra, Portugal.
Tábuas-Pereira M; Neurology Department, Centro Hospitalar E Universitário de Coimbra, Coimbra, Portugal.; Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Lemos J; Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Boeve B; Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Petersen RC; Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Dickson DW; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Graff-Radford NR; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
LeBer I; Sorbonne UniversitéInserm U1127, CNRS UMR 7225, Institut du Cerveau Et La Moelle Épinière (ICM), AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
Sellami L; Sorbonne UniversitéInserm U1127, CNRS UMR 7225, Institut du Cerveau Et La Moelle Épinière (ICM), AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.; Centre de Référence Des Démences Rares Ou Précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
Lamari F; UF de Biochimie Des Maladies Neurométaboliques Et Neurodégénératives, Service de Biochimie Métabolique, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
Clot F; UF de Neurogénétique Moléculaire Et Cellulaire, Département de Génétique, AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Paris, France.
Borroni B; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Cantoni V; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Rivolta J; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Lleó A; Neurology Department. Hospital Sant Pau, Memory Unit, Barcelona, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), 28031, Madrid, Spain.; Autonomous University of Barcelona, 08913, Barcelona, Spain.
Fortea J; Neurology Department. Hospital Sant Pau, Memory Unit, Barcelona, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), 28031, Madrid, Spain.; Autonomous University of Barcelona, 08913, Barcelona, Spain.
Alcolea D; Neurology Department. Hospital Sant Pau, Memory Unit, Barcelona, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), 28031, Madrid, Spain.; Autonomous University of Barcelona, 08913, Barcelona, Spain.
Illán-Gala I; Neurology Department. Hospital Sant Pau, Memory Unit, Barcelona, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), 28031, Madrid, Spain.; Autonomous University of Barcelona, 08913, Barcelona, Spain.
Andres-Cerezo L; Institute of Rheumatology, Na Slupi 4, 12850, Prague 2, Prague, Czech Republic.
Van Damme P; Laboratory of Neurobiology, Flanders Interuniversity Institute for Biotechnology, Katholieke Universiteit Leuven, Campus Gasthuisberg, 3000, Louvain, Belgium.
Clarimon J; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.; Memory Unit, Department of Neurology, Institut d'Investigacions Biomèdiques Sant Pau - Hospital de Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Steinacker P; Department of Neurology, Martin-Luther University Halle-Wittenberg, University Clinic Halle, Halle (Saale), Germany.
Feneberg E; Department of Neurology, Klinikum Rechts Der Isar, Technical University of Munich, Munich, Germany.
Otto M; Department of Neurology, Martin-Luther University Halle-Wittenberg, University Clinic Halle, Halle (Saale), Germany.
van der Ende EL; Department of Neurology and Alzheimer Center Erasmus MC, Erasmus MC University Medical Center, Rotterdam, Netherlands.
van Swieten JC; Department of Neurology and Alzheimer Center Erasmus MC, Erasmus MC University Medical Center, Rotterdam, Netherlands.
Seelaar H; Department of Neurology and Alzheimer Center Erasmus MC, Erasmus MC University Medical Center, Rotterdam, Netherlands.
Zetterberg H; Department of Neurodegenerative Disease, Dementia Research Institute, UCL Institute of Neurology, Queen Square, London, UK.; UK Dementia Research Institute at University College London, UCL Queen Square Institute of Neurology, University College London, London, UK.; Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, 43180, Mölndal, Sweden.; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.; Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.; Hong Kong Center for Neurodegenerative Diseases, Hong Kong, China.
Sogorb-Esteve A; Department of Neurodegenerative Disease, Dementia Research Institute, UCL Institute of Neurology, Queen Square, London, UK.; Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Rohrer JD; Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK. .
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Źródło:
Alzheimer's research & therapy [Alzheimers Res Ther] 2024 Mar 28; Vol. 16 (1), pp. 66. Date of Electronic Publication: 2024 Mar 28.
Typ publikacji:
Systematic Review; Journal Article
MeSH Terms:
Frontotemporal Dementia*/genetics
Frontotemporal Dementia*/pathology
Male ; Humans ; Female ; Progranulins/genetics ; Intercellular Signaling Peptides and Proteins/genetics ; Virulence ; Mutation/genetics ; Membrane Proteins/genetics ; Nerve Tissue Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Underlying pathology identified after 20 years of disease course in two cases of slowly progressive frontotemporal dementia syndromes.
Autorzy:
Hokelekli FO; Departments of Neurology, Mayo Clinic Rochester, Minnesota, USA.
Whitwell JL; Department of Radiology, Mayo Clinic Rochester, Minnesota, USA.
Machulda MM; Departments of Psychiatry and Psychology, Mayo Clinic Rochester, Minnesota, USA.
Jones DT; Departments of Neurology, Mayo Clinic Rochester, Minnesota, USA.
Uitti RJ; Departments of Neurology, Mayo Clinic Rochester, Minnesota, USA.
Pham NTT; Department of Radiology, Mayo Clinic Rochester, Minnesota, USA.
Giannini C; Departments of Pathology, Mayo Clinic Rochester, Minnesota, US.
Baker M; Departments of Neuroscience, Mayo Clinic Rochester, Florida, US.
Lowe VJ; Departments of Neurology, Mayo Clinic Rochester, Minnesota, USA.
Dickson DW; Departments of Pathology, Mayo Clinic Rochester, Minnesota, US.
Josephs KA; Departments of Neurology, Mayo Clinic Rochester, Minnesota, USA.
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Źródło:
Neurocase [Neurocase] 2021 Apr; Vol. 27 (2), pp. 212-222. Date of Electronic Publication: 2021 Apr 27.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Frontotemporal Dementia*/complications
Frontotemporal Lobar Degeneration*/complications
Pick Disease of the Brain*
Brain/diagnostic imaging ; Humans ; Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report.
Autorzy:
Pottier C; a Department of Neuroscience , Mayo Clinic Jacksonville , Jacksonville , FL , USA.
Rampersaud E; b Department of Computational Biology , St. Jude Children's Research Hospital , Memphis , TN , USA.
Baker M; a Department of Neuroscience , Mayo Clinic Jacksonville , Jacksonville , FL , USA.
Wu G; b Department of Computational Biology , St. Jude Children's Research Hospital , Memphis , TN , USA.
Wuu J; c Department of Neurology University of Miami , Miller School of Medicine , Miami , FL , USA.
McCauley JL; d Dr. John T. Macdonald Foundation Department of Human Genetics , John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine , Miami , FL , USA.
Zuchner S; d Dr. John T. Macdonald Foundation Department of Human Genetics , John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine , Miami , FL , USA.
Schule R; e Department of Neurodegenerative Diseases , Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen , Tübingen , Germany.; f German Center for Neurodegenerative Diseases (DZNE), University of Tübingen , Tübingen , Germany.
Bermudez C; c Department of Neurology University of Miami , Miller School of Medicine , Miami , FL , USA.
Hussain S; c Department of Neurology University of Miami , Miller School of Medicine , Miami , FL , USA.
Cooley A; c Department of Neurology University of Miami , Miller School of Medicine , Miami , FL , USA.
Wallace M; c Department of Neurology University of Miami , Miller School of Medicine , Miami , FL , USA.
Zhang J; b Department of Computational Biology , St. Jude Children's Research Hospital , Memphis , TN , USA.
Taylor JP; g Department of Cell and Molecular Biology , St. Jude Children's Research Hospital , Memphis , TN , USA , and.; h Howard Hughes Medical Institute , Chevy Chase , MD , USA.
Benatar M; c Department of Neurology University of Miami , Miller School of Medicine , Miami , FL , USA.
Rademakers R; a Department of Neuroscience , Mayo Clinic Jacksonville , Jacksonville , FL , USA.
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Źródło:
Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2018 Aug; Vol. 19 (5-6), pp. 469-471. Date of Electronic Publication: 2018 Mar 20.
Typ publikacji:
Case Reports; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Amyotrophic Lateral Sclerosis/*complications
Amyotrophic Lateral Sclerosis/*genetics
Frontotemporal Dementia/*complications
Frontotemporal Dementia/*genetics
Mutation/*genetics
Transcription Factor TFIIIA/*genetics
Cell Cycle Proteins ; DNA Mutational Analysis ; Family Health ; Heterozygote ; Humans ; Infant ; Male ; Membrane Transport Proteins
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical and neuropathological features of ALS/FTD with TIA1 mutations.
Autorzy:
Hirsch-Reinshagen V; Department of Pathology and Laboratory Medicine, University of British Colombia, British Columbia, Canada.
Pottier C; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA.
Nicholson AM; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA.
Baker M; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA.
Hsiung GR; Division of Neurology, University of British Columbia, Vancouver, BC, Canada.
Krieger C; Department of Biomedical Physiology & Kinesiology, Simon Fraser University, Burnaby, BC, V5A 1S6, Canada.
Sengdy P; Division of Neurology, University of British Columbia, Vancouver, BC, Canada.
Boylan KB; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA.
Dickson DW; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA.
Mesulam M; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Weintraub S; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Bigio E; Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Zinman L; Division of Neurology, Sunnybrook Health Sciences Centre, Toronto, ON, Canada.
Keith J; Department of Anatomic Pathology, Sunnybrook Health Sciences Centre, Toronto, ON, Canada.
Rogaeva E; Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada.
Zivkovic SA; Department of Neurology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Lacomis D; Department of Neurology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Taylor JP; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, USA.; Tennessee and Howard Hughes Medical Institute, Chevy Chase, MD, USA.
Rademakers R; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA.
Mackenzie IRA; Department of Pathology and Laboratory Medicine, University of British Colombia, British Columbia, Canada. .; Department of Pathology, Vancouver General Hospital and Vancouver Coastal Health, 855 West 12th Avenue, Vancouver, BC, V5Z 1M9, Canada. .
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2017 Dec 07; Vol. 5 (1), pp. 96. Date of Electronic Publication: 2017 Dec 07.
Typ publikacji:
Journal Article
MeSH Terms:
Amyotrophic Lateral Sclerosis/*genetics
Amyotrophic Lateral Sclerosis/*pathology
Frontotemporal Dementia/*genetics
Frontotemporal Dementia/*pathology
Mutation/*genetics
T-Cell Intracellular Antigen-1/*genetics
Adult ; Aged ; Amyotrophic Lateral Sclerosis/complications ; Autopsy ; C9orf72 Protein/genetics ; DNA-Binding Proteins/metabolism ; Family Health ; Female ; Frontotemporal Dementia/complications ; Humans ; Male ; Middle Aged ; Neuropathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Progressive supranuclear palsy in a family with TDP-43 pathology.
Autorzy:
Kertesz A; a Department of Clinical Neurological Sciences , Schulich School of Medicine and Dentistry, University of Western Ontario , 39 Doncaster Ave, London , ON , N6G 2A1 , Canada.
Finger E
Murrell J
Chertkow H
Ang LC
Baker M
Ravenscroft T
Rademakers R
Munoz DG
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Źródło:
Neurocase [Neurocase] 2015; Vol. 21 (2), pp. 178-84. Date of Electronic Publication: 2014 Jan 30.
Typ publikacji:
Case Reports; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Brain/*pathology
Frontotemporal Dementia/*complications
Frontotemporal Dementia/*pathology
Supranuclear Palsy, Progressive/*complications
Supranuclear Palsy, Progressive/*pathology
DNA-Binding Proteins/metabolism ; Family ; Female ; Frontotemporal Dementia/genetics ; Humans ; Middle Aged ; Pedigree ; tau Proteins/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease.
Autorzy:
Rayaprolu S; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Mullen B
Baker M
Lynch T
Finger E
Seeley WW
Hatanpaa KJ
Lomen-Hoerth C
Kertesz A
Bigio EH
Lippa C
Josephs KA
Knopman DS
White CL 3rd
Caselli R
Mackenzie IR
Miller BL
Boczarska-Jedynak M
Opala G
Krygowska-Wajs A
Barcikowska M
Younkin SG
Petersen RC
Ertekin-Taner N
Uitti RJ
Meschia JF
Boylan KB
Boeve BF
Graff-Radford NR
Wszolek ZK
Dickson DW
Rademakers R
Ross OA
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Źródło:
Molecular neurodegeneration [Mol Neurodegener] 2013 Jun 21; Vol. 8, pp. 19. Date of Electronic Publication: 2013 Jun 21.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Frontotemporal Dementia/*genetics
Genetic Predisposition to Disease/*genetics
Membrane Glycoproteins/*genetics
Parkinson Disease/*genetics
Receptors, Immunologic/*genetics
Aged ; Female ; Gene Frequency ; Genotype ; Humans ; Male ; Middle Aged ; Neurodegenerative Diseases/genetics ; Polymorphism, Single Nucleotide ; Real-Time Polymerase Chain Reaction
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Psychometric evaluation of personality in a patient with FTDP-17.
Autorzy:
Sitek EJ
Narozańska E
Sławek J
Wójcik J
Wieczorek D
Robowski P
Schinwelski M
Jasińska-Myga B
Baker M
Rademakers R
Wszołek ZK
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Źródło:
Psychiatry and clinical neurosciences [Psychiatry Clin Neurosci] 2010 Apr; Vol. 64 (2), pp. 211-2.
Typ publikacji:
Case Reports; Letter
MeSH Terms:
Personality*
Frontotemporal Dementia/*psychology
Humans ; Male ; Middle Aged ; Personality Assessment ; Psychometrics ; Surveys and Questionnaires
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Frontotemporal dementia and parkinsonism linked to chromosome 17 - the first Polish family.
Autorzy:
Narożańska, E.
Jasińska-Myga, B.
Sitek, E. J.
Robowski, P.
Brockhuis, B.
Lass, P.
Dubaniewicz, M.
Wieczorek, D.
Baker, M.
Rademakers, R.
Wszolek, Z. K.
Sławek, J.
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Temat:
FRONTOTEMPORAL dementia
PARKINSONIAN disorders
HUMAN chromosomes
NEURODEGENERATION
NEUROPSYCHOLOGICAL tests
UNILATERAL neglect
FAMILY medicine
Źródło:
European Journal of Neurology; Mar2011, Vol. 18 Issue 3, p535-537, 3p, 1 Black and White Photograph, 1 Diagram
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-20 z 43

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