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| 024 | 7 | _ | |a 0885-3185 |2 ISSN |
| 024 | 7 | _ | |a 1531-8257 |2 ISSN |
| 037 | _ | _ | |a DZNE-2026-00169 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Lange, Lara M |b 0 |
| 245 | _ | _ | |a Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease. |
| 260 | _ | _ | |a New York, NY |c 2026 |b Wiley |
| 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 1770629565_24270 |2 PUB:(DE-HGF) |
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| 520 | _ | _ | |a Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear.The aim was to assess the frequency of dystonia-linked pathogenic variants in PD.We screened sequencing data from 15,684 individuals (8272 PD, 3200 atypical parkinsonism, and 4212 unaffected) from the Global Parkinson's Genetics Program (GP2) and Accelerating Medicines Partnership-Parkinson's Disease (AMP-PD) for variants in genes linked to isolated dystonia, dystonia-parkinsonism, and myoclonus-dystonia.Pathogenic variants were identified only in PD patients. Forty-five PD individuals (0.54%) carried 26 distinct (likely) pathogenic variants in nine dystonia-linked genes, most frequently in GCH1, followed by VPS16.Though rare, pathogenic variants in dystonia-linked genes are present in clinically and pathologically diagnosed PD. Our results reinforce GCH1 as a PD-relevant gene with clinical implications, whereas variants identified in other genes are rare and of uncertain relation to the PD phenotype. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. |
| 536 | _ | _ | |a 354 - Disease Prevention and Healthy Aging (POF4-354) |0 G:(DE-HGF)POF4-354 |c POF4-354 |f POF IV |x 0 |
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| 650 | _ | 7 | |a GCH1 |2 Other |
| 650 | _ | 7 | |a Parkinson's disease |2 Other |
| 650 | _ | 7 | |a VPS16 |2 Other |
| 650 | _ | 7 | |a dystonia |2 Other |
| 650 | _ | 7 | |a monogenic |2 Other |
| 650 | _ | 7 | |a GTP Cyclohydrolase |0 EC 3.5.4.16 |2 NLM Chemicals |
| 650 | _ | 7 | |a GCH1 protein, human |0 EC 3.5.4.16 |2 NLM Chemicals |
| 650 | _ | 7 | |a Vesicular Transport Proteins |2 NLM Chemicals |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Parkinson Disease: genetics |2 MeSH |
| 650 | _ | 2 | |a Parkinson Disease: complications |2 MeSH |
| 650 | _ | 2 | |a Male |2 MeSH |
| 650 | _ | 2 | |a Female |2 MeSH |
| 650 | _ | 2 | |a Middle Aged |2 MeSH |
| 650 | _ | 2 | |a Dystonia: genetics |2 MeSH |
| 650 | _ | 2 | |a Aged |2 MeSH |
| 650 | _ | 2 | |a GTP Cyclohydrolase: genetics |2 MeSH |
| 650 | _ | 2 | |a Dystonic Disorders: genetics |2 MeSH |
| 650 | _ | 2 | |a Adult |2 MeSH |
| 650 | _ | 2 | |a Vesicular Transport Proteins: genetics |2 MeSH |
| 700 | 1 | _ | |a Fang, Zih-Hua |0 P:(DE-2719)9001362 |b 1 |u dzne |
| 700 | 1 | _ | |a Screven, Laurel |b 2 |
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| 700 | 1 | _ | |a Amouri, Rim |b 5 |
| 700 | 1 | _ | |a Bovenzi, Roberta |b 6 |
| 700 | 1 | _ | |a Fenn, Matilda |b 7 |
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| 700 | 1 | _ | |a Jankovic, Joseph |b 9 |
| 700 | 1 | _ | |a Jasaityte, Simona |b 10 |
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| 700 | 1 | _ | |a Jeon, Beomseok |0 0000-0003-2491-3544 |b 12 |
| 700 | 1 | _ | |a Sarmiento, Ignacio Juan Keller |b 13 |
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| 700 | 1 | _ | |a Schirinzi, Tommaso |0 0000-0002-2517-6278 |b 20 |
| 700 | 1 | _ | |a Shin, Jung Hwan |0 0000-0003-4182-3612 |b 21 |
| 700 | 1 | _ | |a Shulman, Joshua M |b 22 |
| 700 | 1 | _ | |a Tay, Yi Wen |0 0000-0002-9319-0768 |b 23 |
| 700 | 1 | _ | |a Uitti, Ryan |b 24 |
| 700 | 1 | _ | |a Warner, Tom |0 0000-0001-6195-6995 |b 25 |
| 700 | 1 | _ | |a Wszolek, Zbigniew K |0 0000-0001-5487-1053 |b 26 |
| 700 | 1 | _ | |a Wu, Lesley |b 27 |
| 700 | 1 | _ | |a Wu, Ruey-Meei |0 0000-0002-4947-5467 |b 28 |
| 700 | 1 | _ | |a Zeuner, Kirsten E |b 29 |
| 700 | 1 | _ | |a Blauwendraat, Cornelis |0 P:(DE-2719)2810837 |b 30 |
| 700 | 1 | _ | |a Singleton, Andrew |b 31 |
| 700 | 1 | _ | |a Mencacci, Niccolò E |b 32 |
| 700 | 1 | _ | |a Morris, Huw R |0 0000-0002-5473-3774 |b 33 |
| 700 | 1 | _ | |a Lim, Shen-Yang |b 34 |
| 700 | 1 | _ | |a Lohmann, Katja |0 P:(DE-2719)9000191 |b 35 |
| 700 | 1 | _ | |a Klein, Christine |b 36 |
| 700 | 1 | _ | |a Program, Global Parkinson's Genetics |b 37 |e Collaboration Author |
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