Sökning: onr:"swepub:oai:gup.ub.gu.se/305971" > Pathogenic Huntingt...
Fältnamn | Indikatorer | Metadata |
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000 | 08376naa a2201177 4500 | |
001 | oai:gup.ub.gu.se/305971 | |
003 | SwePub | |
008 | 240910s2021 | |||||||||||000 ||eng| | |
009 | oai:lup.lub.lu.se:a41a44d5-07d8-4e9c-915a-b817fac60859 | |
009 | oai:prod.swepub.kib.ki.se:146333590 | |
024 | 7 | a https://gup.ub.gu.se/publication/3059712 URI |
024 | 7 | a https://doi.org/10.1016/j.neuron.2020.11.0052 DOI |
024 | 7 | a https://lup.lub.lu.se/record/a41a44d5-07d8-4e9c-915a-b817fac608592 URI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1463335902 URI |
040 | a (SwePub)gud (SwePub)lud (SwePub)ki | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Dewan, Ramitau National Institutes of Health, United States4 aut |
245 | 1 0 | a Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. |
264 | 1 | b Elsevier BV,c 2021 |
520 | a We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng |
653 | a Amyotrophic Lateral Sclerosis | |
653 | a genetics | |
653 | a pathology | |
653 | a DNA Repeat Expansion | |
653 | a Frontotemporal Dementia | |
653 | a genetics | |
653 | a pathology | |
653 | a Humans | |
653 | a Huntingtin Protein | |
653 | a genetics | |
653 | a Mutation | |
653 | a Whole Genome Sequencing | |
653 | a amyotrophic lateral sclerosis | |
653 | a frontotemporal dementia | |
653 | a huntingtin | |
653 | a repeat expansions | |
653 | a whole-genome sequencing | |
700 | 1 | a Chia, Ruthu National Institutes of Health, United States4 aut |
700 | 1 | a Ding, Jinhuiu National Institutes of Health, United States4 aut |
700 | 1 | a Hickman, Richard Au Columbia University4 aut |
700 | 1 | a Stein, Thor Du Boston University,Veterans Health Administration4 aut |
700 | 1 | a Abramzon, Yevgeniyau National Institutes of Health, United States4 aut |
700 | 1 | a Ahmed, Sarah4 aut |
700 | 1 | a Sabir, Marya Su National Institutes of Health, United States4 aut |
700 | 1 | a Portley, Makayla Ku National Institute of Neurological Disorders and Stroke (NINDS)4 aut |
700 | 1 | a Tucci, Ariannau Queen Mary University4 aut |
700 | 1 | a Ibáñez, Kristinau Queen Mary University4 aut |
700 | 1 | a Shankaracharya, F N Uu University of Massachusetts Medical School4 aut |
700 | 1 | a Keagle, Pamelau University of Massachusetts Medical School4 aut |
700 | 1 | a Rossi, Giacominau Carlo Besta Neurological Institute, IRCCS4 aut |
700 | 1 | a Caroppo, Paolau Carlo Besta Neurological Institute, IRCCS4 aut |
700 | 1 | a Tagliavini, Fabriziou Carlo Besta Neurological Institute, IRCCS4 aut |
700 | 1 | a Waldo, Maria L.u Lund University,Lunds universitet,Kliniska Vetenskaper, Helsingborg,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Clinical Sciences, Helsingborg,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)med-mlv |
700 | 1 | a Johansson, Per,d 1966u Lund University,Lunds universitet,Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition,Kliniska Vetenskaper, Helsingborg,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Clinical Sciences, Helsingborg,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine,Sahlgrenska Academy4 aut0 (Swepub:lu)med-pjh |
700 | 1 | a Nilsson, Christer F.u Lund University,Lunds universitet,Klinisk minnesforskning,Forskargrupper vid Lunds universitet,Clinical Memory Research,Lund University Research Groups,Skåne University Hospital4 aut0 (Swepub:lu)neur-cni |
700 | 1 | a Rowe, James Bu Cambridge University Hospitals NHS Foundation Trust4 aut |
700 | 1 | a Benussi, Luisau Centro San Giovanni di Dio Fatebenefratelli4 aut |
700 | 1 | a Binetti, Giulianou Centro San Giovanni di Dio Fatebenefratelli4 aut |
700 | 1 | a Ghidoni, Robertau Centro San Giovanni di Dio Fatebenefratelli4 aut |
700 | 1 | a Jabbari, Edwinu Royal Free Hospital,University College London4 aut |
700 | 1 | a Viollet, Coralieu Uniformed Services University of the Health Sciences4 aut |
700 | 1 | a Glass, Jonathan Du Emory University4 aut |
700 | 1 | a Singleton, Andrew Bu National Institutes of Health, United States4 aut |
700 | 1 | a Silani, Vincenzou University of Milan,Istituto Auxologico Italiano4 aut |
700 | 1 | a Ross, Owen Au Mayo Clinic Florida4 aut |
700 | 1 | a Ryten, Minau University College London,UCL Institute of Child Health4 aut |
700 | 1 | a Torkamani, Aliu Scripps Research Institute4 aut |
700 | 1 | a Tanaka, Toshikou National Institutes of Health, United States4 aut |
700 | 1 | a Ferrucci, Luigiu National Institutes of Health, United States4 aut |
700 | 1 | a Resnick, Susan Mu National Institutes of Health, United States4 aut |
700 | 1 | a Pickering-Brown, Stuartu University of Manchester4 aut |
700 | 1 | a Brady, Christopher Bu Veterans Health Administration,Boston University4 aut |
700 | 1 | a Kowal, Neilu Boston University,Veterans Health Administration4 aut |
700 | 1 | a Hardy, John Au University College London,Hong Kong University of Science and Technology4 aut |
700 | 1 | a Van Deerlin, Viviannau University of Pennsylvania4 aut |
700 | 1 | a Vonsattel, Jean Paulu Columbia University4 aut |
700 | 1 | a Harms, Matthew Bu Columbia University4 aut |
700 | 1 | a Morris, Huw Ru University College London,Royal Free Hospital4 aut |
700 | 1 | a Ferrari, Raffaeleu Royal Free Hospital4 aut |
700 | 1 | a Landers, John Eu University of Massachusetts Medical School4 aut |
700 | 1 | a Chiò, Adrianou CNR Institute of Cognitive Sciences and Technologies (ISTC-CNR),Citta' della Salute e della Scienza Hospital-University of Turin,University of Turin4 aut |
700 | 1 | a Gibbs, J Raphaelu National Institutes of Health, United States4 aut |
700 | 1 | a Dalgard, Clifton Lu Uniformed Services University of the Health Sciences4 aut |
700 | 1 | a Scholz, Sonja Wu Johns Hopkins University4 aut |
700 | 1 | a Traynor, Bryan Ju Johns Hopkins University4 aut |
710 | 2 | a National Institutes of Health, United Statesb Columbia University4 org |
710 | 2 | a The Genomics England Research Consortium |
773 | 0 | t Neurond : Elsevier BVg 109:3q 109:3x 1097-4199x 0896-6273 |
856 | 4 | u http://www.cell.com/article/S0896627320308837/pdf |
856 | 4 | u http://dx.doi.org/10.1016/j.neuron.2020.11.005y FULLTEXT |
856 | 4 8 | u https://gup.ub.gu.se/publication/305971 |
856 | 4 8 | u https://doi.org/10.1016/j.neuron.2020.11.005 |
856 | 4 8 | u https://lup.lub.lu.se/record/a41a44d5-07d8-4e9c-915a-b817fac60859 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:146333590 |
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