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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00008376naa a2201177 4500
001oai:gup.ub.gu.se/305971
003SwePub
008240528s2021 | |||||||||||000 ||eng|
009oai:lup.lub.lu.se:a41a44d5-07d8-4e9c-915a-b817fac60859
009oai:prod.swepub.kib.ki.se:146333590
0247 a https://gup.ub.gu.se/publication/3059712 URI
0247 a https://doi.org/10.1016/j.neuron.2020.11.0052 DOI
0247 a https://lup.lub.lu.se/record/a41a44d5-07d8-4e9c-915a-b817fac608592 URI
0247 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 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Dewan, Ramitau National Institutes of Health, United States4 aut
2451 0a Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
264 1b 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 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650 7a 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
7001 a Chia, Ruthu National Institutes of Health, United States4 aut
7001 a Ding, Jinhuiu National Institutes of Health, United States4 aut
7001 a Hickman, Richard Au Columbia University4 aut
7001 a Stein, Thor Du Boston University,Veterans Health Administration4 aut
7001 a Abramzon, Yevgeniyau National Institutes of Health, United States4 aut
7001 a Ahmed, Sarah4 aut
7001 a Sabir, Marya Su National Institutes of Health, United States4 aut
7001 a Portley, Makayla Ku National Institute of Neurological Disorders and Stroke (NINDS)4 aut
7001 a Tucci, Ariannau Queen Mary University4 aut
7001 a Ibáñez, Kristinau Queen Mary University4 aut
7001 a Shankaracharya, F N Uu University of Massachusetts Medical School4 aut
7001 a Keagle, Pamelau University of Massachusetts Medical School4 aut
7001 a Rossi, Giacominau Carlo Besta Neurological Institute, IRCCS4 aut
7001 a Caroppo, Paolau Carlo Besta Neurological Institute, IRCCS4 aut
7001 a Tagliavini, Fabriziou Carlo Besta Neurological Institute, IRCCS4 aut
7001 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
7001 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
7001 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
7001 a Rowe, James Bu Cambridge University Hospitals NHS Foundation Trust4 aut
7001 a Benussi, Luisau Centro San Giovanni di Dio Fatebenefratelli4 aut
7001 a Binetti, Giulianou Centro San Giovanni di Dio Fatebenefratelli4 aut
7001 a Ghidoni, Robertau Centro San Giovanni di Dio Fatebenefratelli4 aut
7001 a Jabbari, Edwinu University College London,Royal Free Hospital4 aut
7001 a Viollet, Coralieu Uniformed Services University of the Health Sciences4 aut
7001 a Glass, Jonathan Du Emory University4 aut
7001 a Singleton, Andrew Bu National Institutes of Health, United States4 aut
7001 a Silani, Vincenzou University of Milan,Istituto Auxologico Italiano4 aut
7001 a Ross, Owen Au Mayo Clinic Florida4 aut
7001 a Ryten, Minau University College London,UCL Institute of Child Health4 aut
7001 a Torkamani, Aliu Scripps Research Institute4 aut
7001 a Tanaka, Toshikou National Institutes of Health, United States4 aut
7001 a Ferrucci, Luigiu National Institutes of Health, United States4 aut
7001 a Resnick, Susan Mu National Institutes of Health, United States4 aut
7001 a Pickering-Brown, Stuartu University of Manchester4 aut
7001 a Brady, Christopher Bu Boston University,Veterans Health Administration4 aut
7001 a Kowal, Neilu Boston University,Veterans Health Administration4 aut
7001 a Hardy, John Au University College London,Hong Kong University of Science and Technology4 aut
7001 a Van Deerlin, Viviannau University of Pennsylvania4 aut
7001 a Vonsattel, Jean Paulu Columbia University4 aut
7001 a Harms, Matthew Bu Columbia University4 aut
7001 a Morris, Huw Ru Royal Free Hospital,University College London4 aut
7001 a Ferrari, Raffaeleu Royal Free Hospital4 aut
7001 a Landers, John Eu University of Massachusetts Medical School4 aut
7001 a Chiò, Adrianou University of Turin,Citta' della Salute e della Scienza Hospital-University of Turin,CNR Institute of Cognitive Sciences and Technologies (ISTC-CNR)4 aut
7001 a Gibbs, J Raphaelu National Institutes of Health, United States4 aut
7001 a Dalgard, Clifton Lu Uniformed Services University of the Health Sciences4 aut
7001 a Scholz, Sonja Wu Johns Hopkins University4 aut
7001 a Traynor, Bryan Ju Johns Hopkins University4 aut
7102 a National Institutes of Health, United Statesb Columbia University4 org
7102 a The Genomics England Research Consortium
7730 t Neurond : Elsevier BVg 109:3q 109:3x 1097-4199x 0896-6273
8564 u http://www.cell.com/article/S0896627320308837/pdf
8564 u http://dx.doi.org/10.1016/j.neuron.2020.11.005y FULLTEXT
8564 8u https://gup.ub.gu.se/publication/305971
8564 8u https://doi.org/10.1016/j.neuron.2020.11.005
8564 8u https://lup.lub.lu.se/record/a41a44d5-07d8-4e9c-915a-b817fac60859
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:146333590

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