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| 001 | 141377 | ||
| 005 | 20240321220941.0 | ||
| 024 | 7 | _ | |a 10.1212/WNL.0000000000001012 |2 doi |
| 024 | 7 | _ | |a pmid:25326098 |2 pmid |
| 024 | 7 | _ | |a pmc:PMC4248456 |2 pmc |
| 024 | 7 | _ | |a 0028-3878 |2 ISSN |
| 024 | 7 | _ | |a 1526-632X |2 ISSN |
| 024 | 7 | _ | |a altmetric:2788380 |2 altmetric |
| 037 | _ | _ | |a DZNE-2020-07699 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Theuns, Jessie |b 0 |
| 245 | _ | _ | |a Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease. |
| 260 | _ | _ | |a [S.l.] |c 2014 |b Ovid |
| 264 | _ | 1 | |3 online |2 Crossref |b Ovid Technologies (Wolters Kluwer Health) |c 2014-10-17 |
| 264 | _ | 1 | |3 print |2 Crossref |b Ovid Technologies (Wolters Kluwer Health) |c 2014-11-18 |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1596713943_18167 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a The objective of this study is to clarify the role of (G4C2)n expansions in the etiology of Parkinson disease (PD) in the worldwide multicenter Genetic Epidemiology of Parkinson's Disease (GEO-PD) cohort.C9orf72 (G4C2)n repeats were assessed in a GEO-PD cohort of 7,494 patients diagnosed with PD and 5,886 neurologically healthy control individuals ascertained in Europe, Asia, North America, and Australia.A pathogenic (G4C2)n>60 expansion was detected in only 4 patients with PD (4/7,232; 0.055%), all with a positive family history of neurodegenerative dementia, amyotrophic lateral sclerosis, or atypical parkinsonism, while no carriers were detected with typical sporadic or familial PD. Meta-analysis revealed a small increase in risk of PD with an increasing number of (G4C2)n repeats; however, we could not detect a robust association between the C9orf72 (G4C2)n repeat and PD, and the population attributable risk was low.Together, these findings indicate that expansions in C9orf72 do not have a major role in the pathogenesis of PD. Testing for C9orf72 repeat expansions should only be considered in patients with PD who have overt symptoms of frontotemporal lobar degeneration/amyotrophic lateral sclerosis or apparent family history of neurodegenerative dementia or motor neuron disease. |
| 536 | _ | _ | |a 345 - Population Studies and Genetics (POF3-345) |0 G:(DE-HGF)POF3-345 |c POF3-345 |f POF III |x 0 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, |
| 650 | _ | 7 | |a C9orf72 Protein |2 NLM Chemicals |
| 650 | _ | 7 | |a C9orf72 protein, human |2 NLM Chemicals |
| 650 | _ | 7 | |a Proteins |2 NLM Chemicals |
| 650 | _ | 2 | |a C9orf72 Protein |2 MeSH |
| 650 | _ | 2 | |a Cohort Studies |2 MeSH |
| 650 | _ | 2 | |a DNA Repeat Expansion: genetics |2 MeSH |
| 650 | _ | 2 | |a Female |2 MeSH |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Internationality |2 MeSH |
| 650 | _ | 2 | |a Male |2 MeSH |
| 650 | _ | 2 | |a Middle Aged |2 MeSH |
| 650 | _ | 2 | |a Parkinson Disease: diagnosis |2 MeSH |
| 650 | _ | 2 | |a Parkinson Disease: epidemiology |2 MeSH |
| 650 | _ | 2 | |a Parkinson Disease: genetics |2 MeSH |
| 650 | _ | 2 | |a Proteins: genetics |2 MeSH |
| 700 | 1 | _ | |a Verstraeten, Aline |b 1 |
| 700 | 1 | _ | |a Sleegers, Kristel |b 2 |
| 700 | 1 | _ | |a Wauters, Eline |b 3 |
| 700 | 1 | _ | |a Gijselinck, Ilse |b 4 |
| 700 | 1 | _ | |a Smolders, Stefanie |b 5 |
| 700 | 1 | _ | |a Crosiers, David |b 6 |
| 700 | 1 | _ | |a Corsmit, Ellen |b 7 |
| 700 | 1 | _ | |a Elinck, Ellen |b 8 |
| 700 | 1 | _ | |a Sharma, Manu |0 P:(DE-2719)9000296 |b 9 |u dzne |
| 700 | 1 | _ | |a Krüger, Rejko |0 P:(DE-2719)2811170 |b 10 |u dzne |
| 700 | 1 | _ | |a Lesage, Suzanne |b 11 |
| 700 | 1 | _ | |a Brice, Alexis |b 12 |
| 700 | 1 | _ | |a Chung, Sun Ju |b 13 |
| 700 | 1 | _ | |a Kim, Mi-Jung |b 14 |
| 700 | 1 | _ | |a Kim, Young Jin |b 15 |
| 700 | 1 | _ | |a Ross, Owen A |b 16 |
| 700 | 1 | _ | |a Wszolek, Zbigniew K |b 17 |
| 700 | 1 | _ | |a Rogaeva, Ekaterina |b 18 |
| 700 | 1 | _ | |a Xi, Zhengrui |b 19 |
| 700 | 1 | _ | |a Lang, Anthony E |b 20 |
| 700 | 1 | _ | |a Klein, Christine |b 21 |
| 700 | 1 | _ | |a Weissbach, Anne |b 22 |
| 700 | 1 | _ | |a Mellick, George D |b 23 |
| 700 | 1 | _ | |a Silburn, Peter A |b 24 |
| 700 | 1 | _ | |a Hadjigeorgiou, Georgios M |b 25 |
| 700 | 1 | _ | |a Dardiotis, Efthimios |b 26 |
| 700 | 1 | _ | |a Hattori, Nobutaka |b 27 |
| 700 | 1 | _ | |a Ogaki, Kotaro |b 28 |
| 700 | 1 | _ | |a Tan, Eng-King |b 29 |
| 700 | 1 | _ | |a Zhao, Yi |b 30 |
| 700 | 1 | _ | |a Aasly, Jan |b 31 |
| 700 | 1 | _ | |a Valente, Enza Maria |b 32 |
| 700 | 1 | _ | |a Petrucci, Simona |b 33 |
| 700 | 1 | _ | |a Annesi, Grazia |b 34 |
| 700 | 1 | _ | |a Quattrone, Aldo |b 35 |
| 700 | 1 | _ | |a Ferrarese, Carlo |b 36 |
| 700 | 1 | _ | |a Brighina, Laura |b 37 |
| 700 | 1 | _ | |a Deutschländer, Angela |b 38 |
| 700 | 1 | _ | |a Puschmann, Andreas |b 39 |
| 700 | 1 | _ | |a Nilsson, Christer |b 40 |
| 700 | 1 | _ | |a Garraux, Gaëtan |b 41 |
| 700 | 1 | _ | |a LeDoux, Mark S |b 42 |
| 700 | 1 | _ | |a Pfeiffer, Ronald F |b 43 |
| 700 | 1 | _ | |a Boczarska-Jedynak, Magdalena |b 44 |
| 700 | 1 | _ | |a Opala, Grzegorz |b 45 |
| 700 | 1 | _ | |a Maraganore, Demetrius M |b 46 |
| 700 | 1 | _ | |a Engelborghs, Sebastiaan |b 47 |
| 700 | 1 | _ | |a De Deyn, Peter Paul |b 48 |
| 700 | 1 | _ | |a Cras, Patrick |b 49 |
| 700 | 1 | _ | |a Cruts, Marc |b 50 |
| 700 | 1 | _ | |a Van Broeckhoven, Christine |0 P:(DE-HGF)0 |b 51 |e Corresponding author |
| 700 | 1 | _ | |a Consortium, GEO-PD |b 52 |
| 700 | 1 | _ | |a Maraganore, Demetrius M |b 53 |
| 700 | 1 | _ | |a Farrer, Matthew J |b 54 |
| 700 | 1 | _ | |a Aasly, Jan O |b 55 |
| 700 | 1 | _ | |a Elbaz, Alexis |b 56 |
| 700 | 1 | _ | |a Ioannidis, John P |b 57 |
| 700 | 1 | _ | |a Annesi, Grazie |b 58 |
| 700 | 1 | _ | |a Valente, Enza Maria |b 59 |
| 700 | 1 | _ | |a Bozi, Maria |b 60 |
| 700 | 1 | _ | |a Brice, Alexis |b 61 |
| 700 | 1 | _ | |a Curie, Marie |b 62 |
| 700 | 1 | _ | |a Carmine-Belin, Andrea |b 63 |
| 700 | 1 | _ | |a Carr, Jonathan |b 64 |
| 700 | 1 | _ | |a Carroll, Camille |b 65 |
| 700 | 1 | _ | |a Chen, Sheng-Di |b 66 |
| 700 | 1 | _ | |a Chung, Sun Ju |b 67 |
| 700 | 1 | _ | |a Cosentino, Carlos |b 68 |
| 700 | 1 | _ | |a Cresswell, Silke |b 69 |
| 700 | 1 | _ | |a Deutschlaender, Angela |b 70 |
| 700 | 1 | _ | |a Ferrarese, Carlo |b 71 |
| 700 | 1 | _ | |a Foroud, Tatiana |b 72 |
| 700 | 1 | _ | |a Garraux, Gaëtan |b 73 |
| 700 | 1 | _ | |a Goldwurm, Stefano |b 74 |
| 700 | 1 | _ | |a Hadjigeorgiou, George |b 75 |
| 700 | 1 | _ | |a Chartier-Harlin, Marie-Christine |b 76 |
| 700 | 1 | _ | |a Hassan, Anhar |b 77 |
| 700 | 1 | _ | |a Hattori, Nobutaka |b 78 |
| 700 | 1 | _ | |a Hentati, Faycal |b 79 |
| 700 | 1 | _ | |a Jeon, Beom Seok |b 80 |
| 700 | 1 | _ | |a Kawakami, Hideshi |b 81 |
| 700 | 1 | _ | |a Kim, Yun Joong |b 82 |
| 700 | 1 | _ | |a Kishore, Asha |b 83 |
| 700 | 1 | _ | |a Klein, Christine |b 84 |
| 700 | 1 | _ | |a Koks, Sulev |b 85 |
| 700 | 1 | _ | |a Krainc, Dimitri |b 86 |
| 700 | 1 | _ | |a Krygowska-Wajs, Anna |b 87 |
| 700 | 1 | _ | |a Lin, Juei-Jueng |b 88 |
| 700 | 1 | _ | |a Lynch, Tim |b 89 |
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| 700 | 1 | _ | |a Pchelina, Sofya N |b 97 |
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| 700 | 1 | _ | |a Toft, Matthias |b 108 |
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| 700 | 1 | _ | |a Wirdefeldt, Karin |b 110 |
| 700 | 1 | _ | |a Woitalla, Dirk |b 111 |
| 700 | 1 | _ | |a Wszolek, Zbigniew K |b 112 |
| 700 | 1 | _ | |a Zimprich, Alexander |b 113 |
| 773 | 1 | 8 | |a 10.1212/wnl.0000000000001012 |b : Ovid Technologies (Wolters Kluwer Health), 2014-10-17 |n 21 |p 1906-1913 |3 journal-article |2 Crossref |t Neurology |v 83 |y 2014 |x 0028-3878 |
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| 856 | 7 | _ | |2 Pubmed Central |u http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248456 |
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