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Global investigatio...
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease
- Article/chapterEnglish2014
Publisher, publication year, extent ...
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2014-10-17
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Ovid Technologies (Wolters Kluwer Health),2014
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electronicrdacarrier
Numbers
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LIBRIS-ID:oai:lup.lub.lu.se:d11aeba5-d37c-4611-8218-4bebf8e63454
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https://lup.lub.lu.se/record/7374380URI
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https://doi.org/10.1212/wnl.0000000000001012DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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OBJECTIVES: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Verstraeten, A.
(author)
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Sleegers, K.
(author)
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Wauters, E.
(author)
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Gijselinck, I.
(author)
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Smolders, S.
(author)
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Crosiers, D.
(author)
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Corsmit, E.
(author)
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Elinck, E.
(author)
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Sharma, M.
(author)
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Kruger, R.
(author)
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Lesage, S.
(author)
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Brice, A.
(author)
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Chung, S. J.
(author)
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Kim, M. J.
(author)
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Kim, Y. J.
(author)
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Ross, O. A.
(author)
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Wszolek, Z. K.
(author)
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Rogaeva, E.
(author)
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Xi, Z.
(author)
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Lang, A. E.
(author)
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Klein, C.
(author)
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Weissbach, A.
(author)
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Mellick, G. D.
(author)
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Silburn, P. A.
(author)
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Hadjigeorgiou, G. M.
(author)
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Dardiotis, E.
(author)
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Hattori, N.
(author)
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Ogaki, K.
(author)
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Tan, E. K.
(author)
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Zhao, Y.
(author)
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Aasly, J.
(author)
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Valente, E. M.
(author)
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Petrucci, S.
(author)
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Annesi, G.
(author)
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Quattrone, A.
(author)
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Ferrarese, C.
(author)
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Brighina, L.
(author)
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Deutschlander, A.
(author)
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Puschmann, AndreasLund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)med-aps
(author)
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Nilsson, C.
(author)
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Garraux, G.
(author)
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LeDoux, M. S.
(author)
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Pfeiffer, R. F.
(author)
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Boczarska-Jedynak, M.
(author)
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Opala, G.
(author)
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Maraganore, D. M.
(author)
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Engelborghs, S.
(author)
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De Deyn, P. P.
(author)
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Cras, P.
(author)
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Cruts, M.
(author)
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Van Broeckhoven, C.
(author)
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Neurologi, LundSektion IV
(creator_code:org_t)
Related titles
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In:Neurology: Ovid Technologies (Wolters Kluwer Health)83:21, s. 13-19061526-632X0028-3878
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Neurology
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Theuns, J.
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Verstraeten, A.
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Sleegers, K.
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Wauters, E.
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Gijselinck, I.
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Smolders, S.
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show more...
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Crosiers, D.
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Corsmit, E.
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Elinck, E.
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Sharma, M.
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Kruger, R.
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Lesage, S.
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Brice, A.
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Chung, S. J.
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Kim, M. J.
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Kim, Y. J.
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Ross, O. A.
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Wszolek, Z. K.
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Rogaeva, E.
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Xi, Z.
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Lang, A. E.
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Klein, C.
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Weissbach, A.
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Mellick, G. D.
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Silburn, P. A.
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Hadjigeorgiou, G ...
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Dardiotis, E.
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Hattori, N.
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Ogaki, K.
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Tan, E. K.
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Zhao, Y.
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Aasly, J.
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Valente, E. M.
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Petrucci, S.
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Annesi, G.
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Quattrone, A.
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Ferrarese, C.
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Brighina, L.
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Deutschlander, A ...
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Puschmann, Andre ...
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Nilsson, C.
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Garraux, G.
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LeDoux, M. S.
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Pfeiffer, R. F.
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Boczarska-Jedyna ...
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Opala, G.
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Maraganore, D. M ...
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Engelborghs, S.
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De Deyn, P. P.
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Cras, P.
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Cruts, M.
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Van Broeckhoven, ...
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- MEDICAL AND HEALTH SCIENCES
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Neurology
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