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Wyszukujesz frazę ""TABRIZI, Sarah J"" wg kryterium: Autor


Tytuł:
Huntington disease alters the actionable information in plasma extracellular vesicles.
Autorzy:
Neueder A; Department of Neurology, Ulm University Hospital, Ulm, Germany.
Nitzschner P; Department of Neurology, Ulm University Hospital, Ulm, Germany.
Wagner R; Department of Neurology, Ulm University Hospital, Ulm, Germany.
Hummel J; Department of Neurology, Ulm University Hospital, Ulm, Germany.
Hoschek F; Department of Neurology, Ulm University Hospital, Ulm, Germany.
Wagner M; Department of Neurology, Ulm University Hospital, Ulm, Germany.
Abdelmoez A; Department of Neurology, Ulm University Hospital, Ulm, Germany.; Department of Pharmaceutical Organic Chemistry, Assiut University, Assiut, Egypt.
von Einem B; Department of Neurology, Ulm University Hospital, Ulm, Germany.
Landwehrmeyer GB; Department of Neurology, Ulm University Hospital, Ulm, Germany.
Tabrizi SJ; UCL Huntington's disease Centre, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
Orth M; Department of Neurology, Ulm University Hospital, Ulm, Germany.; Swiss Huntington Centre, Neurozentrum, Siloah AG, Gumligen, Switzerland.; University Hospital of Old Age Psychiatry and Psychotherapy, Bern University, Bern, Switzerland.
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Źródło:
Clinical and translational medicine [Clin Transl Med] 2024 Jan; Vol. 14 (1), pp. e1525.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Huntington Disease*/genetics
Extracellular Vesicles*
Humans
Raport
Tytuł:
Progressive alterations in white matter microstructure across the timecourse of Huntington's disease.
Autorzy:
Estevez-Fraga C; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
Elmalem MS; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
Papoutsi M; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
Durr A; Sorbonne Université, Paris Brain Institute (ICM), AP-HP, Inserm, CNRS, Pitié-Salpêtrière University Hospital, Paris, France.
Rees EM; Ixico, London, UK.
Hobbs NZ; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
Roos RAC; Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.
Landwehrmeyer B; Department of Neurology, University of Ulm, Ulm, Germany.
Leavitt BR; Centre for Huntington's Disease at UBC Hospital, Department of Medical Genetics and Division of Neurology, Department of Medicine, University of British Columbia, Vancouver, BC, Canada.
Langbehn DR; Department of Psychiatry, University of Iowa, Iowa City, Iowa, USA.
Scahill RI; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
Rees G; Wellcome Centre for Human Neuroimaging, UCL Queen Square Institute of Neurology, University College London, London, UK.
Tabrizi SJ; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
Gregory S; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
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Źródło:
Brain and behavior [Brain Behav] 2023 Apr; Vol. 13 (4), pp. e2940. Date of Electronic Publication: 2023 Mar 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
White Matter*/diagnostic imaging
Huntington Disease*/diagnostic imaging
Humans ; Diffusion Tensor Imaging/methods ; Brain/diagnostic imaging ; Diffusion Magnetic Resonance Imaging/methods
Czasopismo naukowe
Tytuł:
Applying the Huntington's Disease Integrated Staging System (HD-ISS) to Observational Studies.
Autorzy:
Long JD; Department of Psychiatry, University of Iowa, IowaCity, IA, USA.; Department of Biostatistics, University of Iowa, Iowa City, IA, USA.
Gantman EC; CHDI Management/CHDI Foundation, Princeton, NJ, USA.
Mills JA; Department of Psychiatry, University of Iowa, IowaCity, IA, USA.
Vaidya JG; Department of Psychiatry, University of Iowa, IowaCity, IA, USA.
Mansbach A; APS Consulting Services Ltd., Washington, DC, USA.
Tabrizi SJ; UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, UK Dementia Research Institute, Department of Neurodegenerative Diseases, University College London, London, UK.
Sampaio C; CHDI Management/CHDI Foundation, Princeton, NJ, USA.
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Źródło:
Journal of Huntington's disease [J Huntingtons Dis] 2023; Vol. 12 (1), pp. 57-69.
Typ publikacji:
Journal Article
MeSH Terms:
Huntington Disease*
Cognition Disorders*
Cognitive Dysfunction*
Humans ; Biomarkers ; Disease Progression
Czasopismo naukowe
Tytuł:
Advance Care Planning in Huntington's Disease.
Autorzy:
Farag M; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.; The National Hospital for Neurology and Neurosurgery (NHNN), London, UK.
Salanio DM; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.; The National Hospital for Neurology and Neurosurgery (NHNN), London, UK.
Hearst C; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.; The National Hospital for Neurology and Neurosurgery (NHNN), London, UK.
Rae D; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.; The National Hospital for Neurology and Neurosurgery (NHNN), London, UK.
Tabrizi SJ; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.; The National Hospital for Neurology and Neurosurgery (NHNN), London, UK.
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Źródło:
Journal of Huntington's disease [J Huntingtons Dis] 2023; Vol. 12 (1), pp. 77-82.
Typ publikacji:
Journal Article
MeSH Terms:
Huntington Disease*/therapy
Advance Care Planning*
Adult ; Humans
Czasopismo naukowe
Tytuł:
Huntington's Disease Clinical Trials Corner: August 2023.
Autorzy:
Estevez-Fraga C; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, London, UK.
Tabrizi SJ; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, London, UK.
Wild EJ; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, London, UK.
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Źródło:
Journal of Huntington's disease [J Huntingtons Dis] 2023; Vol. 12 (2), pp. 169-185.
Typ publikacji:
Journal Article
MeSH Terms:
Huntington Disease*/therapy
Humans ; Longitudinal Studies ; Oligonucleotides
Czasopismo naukowe
Tytuł:
Forecasting individual progression trajectories in Huntington disease enables more powered clinical trials.
Autorzy:
Koval I; Institut du Cerveau - Paris Brain Institute - ICM, CNRS, Inria, Inserm, AP-HP, Hôpital de la Pitié Salpêtrière, Sorbonne Université, 75013, Paris, France.
Dighiero-Brecht T; Institut du Cerveau - Paris Brain Institute - ICM, CNRS, Inria, Inserm, AP-HP, Hôpital de la Pitié Salpêtrière, Sorbonne Université, 75013, Paris, France.
Tobin AJ; Biological Adaptation and Ageing, Sorbonne Université, Paris, France.; Brain Research Institute, University of California Los Angeles, Los Angeles, CA, USA.
Tabrizi SJ; UCL Queen Square Institute of Neurology, University College London, Queen Square, London, UK.
Scahill RI; UCL Queen Square Institute of Neurology, University College London, Queen Square, London, UK.
Tezenas du Montcel S; Institut du Cerveau - Paris Brain Institute - ICM, CNRS, Inria, Inserm, AP-HP, Hôpital de la Pitié Salpêtrière, Sorbonne Université, 75013, Paris, France.
Durrleman S; Institut du Cerveau - Paris Brain Institute - ICM, CNRS, Inria, Inserm, AP-HP, Hôpital de la Pitié Salpêtrière, Sorbonne Université, 75013, Paris, France. .
Durr A; Department of Neurology, DMU Neurosciences, Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, CNRS, Inserm, AP-HP, Hôpital de la Pitié Salpêtrière, 75013, Paris, France. .
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Źródło:
Scientific reports [Sci Rep] 2022 Nov 07; Vol. 12 (1), pp. 18928. Date of Electronic Publication: 2022 Nov 07.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Huntington Disease*/pathology
Neurodegenerative Diseases*
Humans ; Longitudinal Studies ; Cohort Studies ; Biomarkers ; Disease Progression
Czasopismo naukowe
Tytuł:
Lumbar puncture safety and tolerability in premanifest and manifest Huntington's disease: a multi-analysis cross-sectional study.
Autorzy:
Hassan YR; UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, 10-12 Russell Square House, London, WC1B 5EH, UK.
Brogueira Rodrigues F; UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, 10-12 Russell Square House, London, WC1B 5EH, UK.
Zeun P; UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, 10-12 Russell Square House, London, WC1B 5EH, UK.
Byrne LM; UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, 10-12 Russell Square House, London, WC1B 5EH, UK.
Estevez-Fraga C; UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, 10-12 Russell Square House, London, WC1B 5EH, UK.
Tortelli R; UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, 10-12 Russell Square House, London, WC1B 5EH, UK.
Scahill RI; UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, 10-12 Russell Square House, London, WC1B 5EH, UK.
Wild EJ; UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, 10-12 Russell Square House, London, WC1B 5EH, UK. .
Tabrizi SJ; UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, 10-12 Russell Square House, London, WC1B 5EH, UK. s.tabrizi@ucl.ac.uk.
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Źródło:
Scientific reports [Sci Rep] 2022 Nov 01; Vol. 12 (1), pp. 18377. Date of Electronic Publication: 2022 Nov 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Huntington Disease*/genetics
Humans ; Female ; Cross-Sectional Studies ; Spinal Puncture ; Heterozygote ; Biomarkers ; Disease Progression
Czasopismo naukowe
Tytuł:
Huntington's Disease Clinical Trials Corner: November 2022.
Autorzy:
Estevez-Fraga C; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, London, UK.
Tabrizi SJ; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, London, UK.
Wild EJ; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, London, UK.
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Źródło:
Journal of Huntington's disease [J Huntingtons Dis] 2022; Vol. 11 (4), pp. 351-367.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Huntington Disease*/therapy
Humans ; Longitudinal Studies ; Clinical Trials as Topic
Czasopismo naukowe
Tytuł:
Huntington's Disease Clinical Trials Corner: April 2022.
Autorzy:
Estevez-Fraga C; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, London, UK.
Rodrigues FB; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, London, UK.; Laboratory of Clinical Pharmacology and Therapeutics, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.; Instituto de Medicina Molecular, Lisbon, Portugal.
Tabrizi SJ; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, London, UK.
Wild EJ; Huntington's Disease Centre, UCL Queen Square Institute of Neurology, London, UK.
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Źródło:
Journal of Huntington's disease [J Huntingtons Dis] 2022; Vol. 11 (2), pp. 105-118.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Huntington Disease*/drug therapy
Huntington Disease*/therapy
Humans ; Longitudinal Studies
Czasopismo naukowe
Tytuł:
Altered nuclear architecture in blood cells from Huntington's disease patients.
Autorzy:
de Castro IJ; Genome Function Group, MRC London Institute for Medical Sciences, London, W12 0NN, UK. .; Epigenetic Regulation and Chromatin Architecture Group, Berlin Institute for Medical Systems Biology, Max-Delbrück Centre for Molecular Medicine, 10115, Berlin, Germany. .; Department of Infectious Diseases, Integrative Virology, Heidelberg University Hospital, Im Neuenheimer Feld 344, Heidelberg, 69120, Germany. .
Toner B; CompuMAINE Lab, Department of Chemical and Biomedical Engineering, University of Maine, Orono, ME, 04469, USA.
Xie SQ; Genome Function Group, MRC London Institute for Medical Sciences, London, W12 0NN, UK.; Chromatin and Development Group, MRC London Institute of Medical Sciences, London, W12 0NN, UK.
Swingland J; Institute of Psychiatry, King's College London, London, SE5 8AF, UK.; GRIP AI, London, EC2A 3AZ, UK.; Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 8AF, UK.
Hodges A; Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 8AF, UK.
Tabrizi SJ; UCL Institute of Neurology, Box 104, National Hospital for Neurology and Neurosurgery Queen Square, University College London, London, WC1N 3BG, UK.
Turkheimer F; Institute of Psychiatry, King's College London, London, SE5 8AF, UK.; Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 8AF, UK.; Huntington's Disease Centre, Department of Neurodegenerative Disease, University College London (UCL) Queen Square Institute of Neurology and the UK Dementia Research Institute, UCL, London, UK.
Pombo A; Genome Function Group, MRC London Institute for Medical Sciences, London, W12 0NN, UK.; Epigenetic Regulation and Chromatin Architecture Group, Berlin Institute for Medical Systems Biology, Max-Delbrück Centre for Molecular Medicine, 10115, Berlin, Germany.
Khalil A; CompuMAINE Lab, Department of Chemical and Biomedical Engineering, University of Maine, Orono, ME, 04469, USA. .
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2022 Jan; Vol. 43 (1), pp. 379-385. Date of Electronic Publication: 2021 May 11.
Typ publikacji:
Journal Article
MeSH Terms:
Huntington Disease*/genetics
Blood Cells ; Brain ; Gene Expression ; Humans ; In Situ Hybridization, Fluorescence
Czasopismo naukowe
Tytuł:
Human Huntington's disease pluripotent stem cell-derived microglia develop normally but are abnormally hyper-reactive and release elevated levels of reactive oxygen species.
Autorzy:
O'Regan GC; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK.
Farag SH; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK.
Casey CS; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK.
Wood-Kaczmar A; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK.
Pocock JM; Department of Neuroinflammation, UCL Queen Square Institute of Neurology, University College London, WC1N 1PJ, London, UK.
Tabrizi SJ; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK. s.tabrizi@ucl.ac.uk.
Andre R; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK. .
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Źródło:
Journal of neuroinflammation [J Neuroinflammation] 2021 Apr 19; Vol. 18 (1), pp. 94. Date of Electronic Publication: 2021 Apr 19.
Typ publikacji:
Journal Article
MeSH Terms:
Huntington Disease*/genetics
Huntington Disease*/metabolism
Huntington Disease*/pathology
Huntington Disease*/physiopathology
Induced Pluripotent Stem Cells/*metabolism
Induced Pluripotent Stem Cells/*pathology
Microglia/*metabolism
Microglia/*pathology
Reactive Oxygen Species/*metabolism
Cell Differentiation ; Cell Line ; Corpus Striatum/metabolism ; Humans ; Huntingtin Protein/genetics ; Huntingtin Protein/metabolism ; Mutation ; Neurons/metabolism
Czasopismo naukowe
Tytuł:
In vivo neutralization of the protagonist role of macrophages during the chronic inflammatory stage of Huntington's disease.
Autorzy:
Pido-Lopez J; Huntington's Disease Centre, Department of Neurodegenerative Disease and Dementia Research Institute, UCL Institute of Neurology, University College London, London, WC1N 3BG, UK. j..
Andre R; Huntington's Disease Centre, Department of Neurodegenerative Disease and Dementia Research Institute, UCL Institute of Neurology, University College London, London, WC1N 3BG, UK.
Benjamin AC; Huntington's Disease Centre, Department of Neurodegenerative Disease and Dementia Research Institute, UCL Institute of Neurology, University College London, London, WC1N 3BG, UK.
Ali N; Huntington's Disease Centre, Department of Neurodegenerative Disease and Dementia Research Institute, UCL Institute of Neurology, University College London, London, WC1N 3BG, UK.
Farag S; Huntington's Disease Centre, Department of Neurodegenerative Disease and Dementia Research Institute, UCL Institute of Neurology, University College London, London, WC1N 3BG, UK.
Tabrizi SJ; Huntington's Disease Centre, Department of Neurodegenerative Disease and Dementia Research Institute, UCL Institute of Neurology, University College London, London, WC1N 3BG, UK.
Bates GP; Huntington's Disease Centre, Department of Neurodegenerative Disease and Dementia Research Institute, UCL Institute of Neurology, University College London, London, WC1N 3BG, UK. .
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Źródło:
Scientific reports [Sci Rep] 2018 Jul 30; Vol. 8 (1), pp. 11447. Date of Electronic Publication: 2018 Jul 30.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Huntington Disease/*pathology
Inflammation/*pathology
Macrophages/*pathology
Animals ; Brain/pathology ; Chronic Disease ; Clodronic Acid/pharmacology ; Cytokines/blood ; Dendritic Cells/pathology ; Female ; Huntington Disease/blood ; Huntington Disease/immunology ; Inflammation/blood ; Liposomes ; Male ; Mice, Inbred C57BL ; Spleen/pathology
Czasopismo naukowe
Tytuł:
Quantification of huntingtin protein species in Huntington's disease patient leukocytes using optimised electrochemiluminescence immunoassays.
Autorzy:
Hensman Moss DJ; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom.
Robertson N; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom.
Farmer R; Department of Medical Statistics, London School of Hygiene and Tropical Medicine, London, United Kingdom.
Scahill RI; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom.
Haider S; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom.
Tessari MA; Galapagos B. V., Leiden, Netherlands.
Flynn G; Charles River, Leiden, Netherlands.
Fischer DF; Charles River, Leiden, Netherlands.
Wild EJ; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom.
Macdonald D; CHDI Management/CHDI Foundation, Los Angeles, California, United States of America.
Tabrizi SJ; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom.
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Źródło:
PloS one [PLoS One] 2017 Dec 22; Vol. 12 (12), pp. e0189891. Date of Electronic Publication: 2017 Dec 22 (Print Publication: 2017).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Enzyme-Linked Immunosorbent Assay/*methods
Huntingtin Protein/*blood
Huntington Disease/*blood
Leukocytes/*metabolism
Brain/diagnostic imaging ; Cross-Sectional Studies ; Electrochemistry ; Humans ; Huntingtin Protein/genetics ; Huntington Disease/diagnostic imaging ; Luminescence ; Mutation
Czasopismo naukowe
Tytuł:
Allele-Selective Suppression of Mutant Huntingtin in Primary Human Blood Cells.
Autorzy:
Miller JRC; Department of Neurodegenerative Disease, UCL Institute of Neurology, University College London, London, WC1N 3BG, UK.
Pfister EL; RNA Therapeutics Institute and Department of Medicine, University of Massachusetts Medical School, Worcester, MA, USA.
Liu W; RNA Therapeutics Institute and Department of Medicine, University of Massachusetts Medical School, Worcester, MA, USA.
Andre R; Department of Neurodegenerative Disease, UCL Institute of Neurology, University College London, London, WC1N 3BG, UK.
Träger U; Department of Neurodegenerative Disease, UCL Institute of Neurology, University College London, London, WC1N 3BG, UK.
Kennington LA; RNA Therapeutics Institute and Department of Medicine, University of Massachusetts Medical School, Worcester, MA, USA.
Lo K; Charles River, Leiden, The Netherlands.
Dijkstra S; Charles River, Leiden, The Netherlands.
Macdonald D; CHDI Management/CHDI Foundation, Los Angeles, CA, USA.
Ostroff G; Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA, USA.
Aronin N; RNA Therapeutics Institute and Department of Medicine, University of Massachusetts Medical School, Worcester, MA, USA.
Tabrizi SJ; Department of Neurodegenerative Disease, UCL Institute of Neurology, University College London, London, WC1N 3BG, UK.
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Źródło:
Scientific reports [Sci Rep] 2017 Apr 24; Vol. 7, pp. 46740. Date of Electronic Publication: 2017 Apr 24.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Polymorphism, Single Nucleotide*
Huntingtin Protein/*genetics
Huntington Disease/*genetics
Mutant Proteins/*genetics
Adult ; Aged ; Alleles ; Cells, Cultured ; Cohort Studies ; Genotype ; Humans ; Huntington Disease/blood ; Middle Aged ; Myeloid Cells/metabolism ; RNA Interference
Czasopismo naukowe
Tytuł:
Huntington's disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer's disease.
Autorzy:
Hensman Moss DJ; Department of Neurodegenerative Disease, University College London Institute of Neurology, London, WC1B 5EH, UK.
Flower MD; Department of Neurodegenerative Disease, University College London Institute of Neurology, London, WC1B 5EH, UK.
Lo KK; University College London Genetics Institute, University College London, London, WC1E 6BT, UK.
Miller JR; Department of Neurodegenerative Disease, University College London Institute of Neurology, London, WC1B 5EH, UK.
van Ommen GB; Department of Human Genetics, Leiden University Medical Center, Leiden, Postzone S-4-P, The Netherlands.
't Hoen PA; Department of Human Genetics, Leiden University Medical Center, Leiden, Postzone S-4-P, The Netherlands.
Stone TC; MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, CF24 4HQ, UK.
Guinee A; Faculty of Education, University of Cambridge, CB2 8PQ, Cambridge UK.
Langbehn DR; Departments of Psychiatry and Biostatistics, University of Iowa, IA 52242, USA.
Jones L; MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, CF24 4HQ, UK.
Plagnol V; University College London Genetics Institute, University College London, London, WC1E 6BT, UK.
van Roon-Mom WM; Department of Human Genetics, Leiden University Medical Center, Leiden, Postzone S-4-P, The Netherlands.
Holmans P; MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, CF24 4HQ, UK.
Tabrizi SJ; Department of Neurodegenerative Disease, University College London Institute of Neurology, London, WC1B 5EH, UK.
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Źródło:
Scientific reports [Sci Rep] 2017 Mar 21; Vol. 7, pp. 44849. Date of Electronic Publication: 2017 Mar 21.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Expression Regulation*
Transcriptome*
Alzheimer Disease/*etiology
Brain/*metabolism
Huntington Disease/*etiology
Immunity/*genetics
Adult ; Aged ; Alzheimer Disease/blood ; Alzheimer Disease/diagnosis ; Alzheimer Disease/metabolism ; Biomarkers ; Case-Control Studies ; Female ; Gene Expression Profiling ; Gene Regulatory Networks ; High-Throughput Nucleotide Sequencing ; Humans ; Huntington Disease/blood ; Huntington Disease/diagnosis ; Huntington Disease/metabolism ; Male ; Middle Aged ; Myeloid Cells/immunology ; Myeloid Cells/metabolism ; Prefrontal Cortex/metabolism ; Signal Transduction ; Young Adult
Czasopismo naukowe
Tytuł:
A Computational Cognitive Biomarker for Early-Stage Huntington's Disease.
Autorzy:
Wiecki TV; Cognitive, Linguistic & Psychological Sciences, Brown, Providence, United States of America.
Antoniades CA; Division of Clinical Neurology, Nuffield Department of Clinical Neurosciences, Level 6 West Wing, John Radcliffe Hospital, University of Oxford, Oxford, OX3 9DU, United Kingdom.
Stevenson A; Division of Clinical Neurology, Nuffield Department of Clinical Neurosciences, Level 6 West Wing, John Radcliffe Hospital, University of Oxford, Oxford, OX3 9DU, United Kingdom.
Kennard C; Division of Clinical Neurology, Nuffield Department of Clinical Neurosciences, Level 6 West Wing, John Radcliffe Hospital, University of Oxford, Oxford, OX3 9DU, United Kingdom.
Borowsky B; CHDI Management Inc/CHDI Foundation, 155 Village Boulevard, Suite 200, Princeton, NJ 08540, United States of America.
Owen G; Huntington's Disease Research Centre, UCL Institute of Neurology, 2nd Floor Russell Square House, 10-12 Russell Square, London, WC1B 5EH, United Kingdom.
Leavitt B; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada.
Roos R; Department of Neurology, Leiden University Medical Centre, 2300RC Leiden, The Netherlands.
Durr A; Department of Genetics and Cytogenetics, and INSERM UMR S679, APHP Hôpital de la Salpêtrière, 75013 Paris, France.
Tabrizi SJ; Huntington's Disease Research Centre, UCL Institute of Neurology, 2nd Floor Russell Square House, 10-12 Russell Square, London, WC1B 5EH, United Kingdom.
Frank MJ; Cognitive, Linguistic & Psychological Sciences, Brown, Providence, United States of America.
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Źródło:
PloS one [PLoS One] 2016 Feb 12; Vol. 11 (2), pp. e0148409. Date of Electronic Publication: 2016 Feb 12 (Print Publication: 2016).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Models, Psychological*
Cognition/*physiology
Executive Function/*physiology
Huntington Disease/*diagnosis
Adult ; Basal Ganglia/pathology ; Basal Ganglia/physiopathology ; Biomarkers/analysis ; Case-Control Studies ; Computer Simulation ; Disease Progression ; Female ; Humans ; Huntington Disease/pathology ; Huntington Disease/physiopathology ; Huntington Disease/psychology ; Male ; Middle Aged ; Prefrontal Cortex/pathology ; Prefrontal Cortex/physiopathology ; Prognosis ; Psychological Tests ; Reaction Time ; Saccades/physiology
Czasopismo naukowe
Tytuł:
Mutant Huntingtin Does Not Affect the Intrinsic Phenotype of Human Huntington's Disease T Lymphocytes.
Autorzy:
Miller JR; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom.
Träger U; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom.
Andre R; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom.
Tabrizi SJ; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom.
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Źródło:
PloS one [PLoS One] 2015 Nov 03; Vol. 10 (11), pp. e0141793. Date of Electronic Publication: 2015 Nov 03 (Print Publication: 2015).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Immunity, Innate*
Mutation*
Huntington Disease/*immunology
Nerve Tissue Proteins/*immunology
T-Lymphocytes/*immunology
Adaptive Immunity ; Cells, Cultured ; Female ; Humans ; Huntingtin Protein ; Huntington Disease/pathology ; Male ; Nerve Tissue Proteins/genetics ; T-Lymphocytes/pathology
Czasopismo naukowe
Tytuł:
A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease.
Autorzy:
Bečanović K; 1] Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada. [2] Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Nørremølle A; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
Neal SJ; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Kay C; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Collins JA; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Arenillas D; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Lilja T; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Gaudenzi G; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Manoharan S; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Doty CN; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Beck J; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Lahiri N; UCL Institute of Neurology, University College London, London, UK.
Portales-Casamar E; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Warby SC; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Connolly C; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
De Souza RA; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Tabrizi SJ; UCL Institute of Neurology, University College London, London, UK.
Hermanson O; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Langbehn DR; Department of Psychiatry and Biostatistics, University of Iowa, Iowa City, Iowa, USA.
Hayden MR; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Wasserman WW; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Leavitt BR; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
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Corporate Authors:
REGISTRY Investigators of the European Huntington's Disease Network
Źródło:
Nature neuroscience [Nat Neurosci] 2015 Jun; Vol. 18 (6), pp. 807-16. Date of Electronic Publication: 2015 May 04.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Huntington Disease/*genetics
Huntington Disease/*metabolism
NF-kappa B/*metabolism
Nerve Tissue Proteins/*genetics
Polymorphism, Single Nucleotide/*genetics
Adult ; Age of Onset ; Alleles ; Cohort Studies ; DNA/genetics ; Gene Expression Regulation/physiology ; Genes, Reporter/genetics ; Humans ; Huntingtin Protein ; Huntington Disease/physiopathology ; Middle Aged ; Mutagenesis, Site-Directed ; Nerve Tissue Proteins/metabolism ; Protein Binding
Czasopismo naukowe
Tytuł:
Analysis of White Adipose Tissue Gene Expression Reveals CREB1 Pathway Altered in Huntington's Disease.
Autorzy:
McCourt AC; Brain Disease Biomarker unit, Department of Experimental Medical Science, Wallenberg Neuroscience Centre, Lund University, Lund, Sweden.
Parker J; Institute of Neurology, Department of Neurodegenerative Disease, UCL, London, UK.; Magnus Life Science, Rayne Building, 5 University Street, London, UK.
Silajdžić E; Brain Disease Biomarker unit, Department of Experimental Medical Science, Wallenberg Neuroscience Centre, Lund University, Lund, Sweden.; Faculty of Life Sciences, Michael Smith Building, Oxford Road, Manchester, M13 9PT, UK.
Haider S; Institute of Neurology, Department of Neurodegenerative Disease, UCL, London, UK.
Sethi H; Victor Horsley Department of Neurosurgery, The National Hospital for Neurology and Neurosurgery, London, UK.
Tabrizi SJ; Institute of Neurology, Department of Neurodegenerative Disease, UCL, London, UK.
Warner TT; Reta Lila Weston Institute, UCL Institute of Neurology, London, UK.
Björkqvist M; Brain Disease Biomarker unit, Department of Experimental Medical Science, Wallenberg Neuroscience Centre, Lund University, Lund, Sweden.
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Źródło:
Journal of Huntington's disease [J Huntingtons Dis] 2015; Vol. 4 (4), pp. 371-82.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Adipose Tissue, White/*metabolism
Huntington Disease/*genetics
Transcription Factors/*metabolism
Adult ; Angiotensinogen/genetics ; Angiotensinogen/metabolism ; Carrier Proteins/genetics ; Carrier Proteins/metabolism ; Case-Control Studies ; Cyclic AMP Response Element-Binding Protein/genetics ; Cyclic AMP Response Element-Binding Protein/metabolism ; Female ; Humans ; Huntington Disease/metabolism ; Male ; Microfilament Proteins/genetics ; Microfilament Proteins/metabolism ; Middle Aged ; Myelin and Lymphocyte-Associated Proteolipid Proteins/genetics ; Myelin and Lymphocyte-Associated Proteolipid Proteins/metabolism ; Real-Time Polymerase Chain Reaction ; Receptor, Angiotensin, Type 2/genetics ; Receptor, Angiotensin, Type 2/metabolism ; Transcriptome
Czasopismo naukowe
Tytuł:
Neuropsychiatry and White Matter Microstructure in Huntington's Disease.
Autorzy:
Gregory S; Wellcome Trust Centre for Neuroimaging, UCL, London, UK.; Institute of Cognitive Neuroscience, University College London, UK.
Scahill RI; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.
Seunarine KK; Developmental Imaging and Biophysics Section, UCL Institute of Child Health, London, UK.
Stopford C; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and Manchester Academic Health Science Centre, Manchester, UK.; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Zhang H; Department of Computer Science and Centre for Medical Image Computing, UCL, London, UK.
Zhang J; Department of Computer Science and Centre for Medical Image Computing, UCL, London, UK.
Orth M; Department of Neurology, University of Ulm, Ulm, Germany.
Durr A; APHP Department of Genetics, Groupe Hospitalier Pitié-Salpêtrière, and Institut du Cerveau et de la Moelle, INSERM U1127, CNRS UMR7225, Sorbonne Universités - UPMC Université Paris VI UMR_S1127, Paris, France.
Roos RA; Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.
Langbehn DR; Department of Psychiatry, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Department of Biostatistics, College of Public Health, University of Iowa, Iowa City, IA, USA.
Long JD; Department of Psychiatry, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Department of Biostatistics, College of Public Health, University of Iowa, Iowa City, IA, USA.
Johnson H; Department of Electrical and Computer Engineering, University of Iowa, Iowa City, IA, USA.
Rees G; Wellcome Trust Centre for Neuroimaging, UCL, London, UK.; Institute of Cognitive Neuroscience, University College London, UK.
Tabrizi SJ; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
Craufurd D; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and Manchester Academic Health Science Centre, Manchester, UK.; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
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Corporate Authors:
Track-HD Investigators
Źródło:
Journal of Huntington's disease [J Huntingtons Dis] 2015; Vol. 4 (3), pp. 239-49.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Apathy/*physiology
Depressive Disorder/*pathology
Huntington Disease/*pathology
Irritable Mood/*physiology
White Matter/*pathology
Adult ; Anisotropy ; Behavior Rating Scale ; Diffusion Tensor Imaging/methods ; Female ; Humans ; Male ; Middle Aged ; Regression Analysis ; Surveys and Questionnaires
Czasopismo naukowe

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