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Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1
Author / Creator:Bragg, D. Cristopher ; Mangkalaphiban, Kotchaphorn ; Vaine, Christine A. ; Kulkarni, Nichita J. ; Shin, David ; Yadav, Rachita ; Dhakal, Jyotsna ; Ton, Mai-Linh ; Cheng, Anne ; Russo, Christopher T. ; Ang, Mark ; Acuña, Patrick ; Go, Criscely ; Franceour, Taylor N. ; Multhaupt-Buell, Trisha ; Ito, Naoto ; Müller, Ulrich ; Hendriks, William T. ; Breakefield, Xandra O. ; Sharma, Nutan ; Ozelius, Laurie J.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2017-12, Vol.114 (51), p.E11020-E11028
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Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
Author / Creator:Tuschl, Karin ; Meyer, Esther ; Valdivia, Leonardo E. ; Zhao, Ningning ; Dadswell, Chris ; Abdul-Sada, Alaa ; Hung, Christina Y. ; Simpson, Michael A. ; Chong, W. K. ; Jacques, Thomas S. ; Woltjer, Randy L. ; Eaton, Simon ; Gregory, Allison ; Sanford, Lynn ; Kara, Eleanna ; Houlden, Henry ; Cuno, Stephan M. ; Prokisch, Holger ; Valletta, Lorella ; Tiranti, Valeria ; Younis, Rasha ; Maher, Eamonn R. ; Spencer, John ; Straatman-Iwanowska, Ania ; Gissen, Paul ; Selim, Laila A. M. ; Pintos-Morell, Guillem ; Coroleu-Lletget, Wifredo ; Mohammad, Shekeeb S. ; Yoganathan, Sangeetha ; Dale, Russell C. ; Thomas, Maya ; Rihel, Jason ; Bodamer, Olaf A. ; Enns, Caroline A. ; Hayflick, Susan J. ; Clayton, Peter T. ; Mills, Philippa B. ; Kurian, Manju A. ; Wilson, Stephen W.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2016-05, Vol.7 (1), p.11601-16, Article 11601
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Dystonia
Author / Creator:Balint, Bettina ; Mencacci, Niccolò E. ; Valente, Enza Maria ; Pisani, Antonio ; Rothwell, John ; Jankovic, Joseph ; Vidailhet, Marie ; Bhatia, Kailash P.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Disease primers, 2018-09, Vol.4 (1), p.25, Article 25
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Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study
Author / Creator:Wadon, Megan E. ; Fenner, Eilidh ; Kendall, Kimberley M. ; Bailey, Grace A. ; Sandor, Cynthia ; Rees, Elliott ; Peall, Kathryn J.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2022-12, Vol.269 (12), p.6436-6451
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A microstructural neural network biomarker for dystonia diagnosis identified by a DystoniaNet deep learning platform
Author / Creator:Valeriani, Davide ; Simonyan, Kristina
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2020-10, Vol.117 (42), p.26398-26405
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Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese population
Author / Creator:Lin, Junyu ; Li, Chunyu ; Cui, Yiyuan ; Hou, Yanbing ; Zhang, Lingyu ; Ou, Ruwei ; Wei, Qianqian ; Liu, Kuncheng ; Yang, Tianmi ; Xiao, Yi ; Jiang, Qirui ; Zhao, Bi ; Yang, Jing ; Chen, Xueping ; Shang, Huifang
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2023-04, Vol.270 (4), p.2197-2203
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Mutation screening of AOPEP variants in a large dystonia cohort
Author / Creator:Lin, Junyu ; Li, Chunyu ; Cui, Yiyuan ; Hou, Yanbing ; Zhang, Lingyu ; Ou, Ruwei ; Wei, Qianqian ; Liu, Kuncheng ; Huang, Rui ; Yang, Tianmi ; Xiao, Yi ; Jiang, Qirui ; Yang, Jing ; Chen, Xueping ; Shang, Huifang
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2023-06, Vol.270 (6), p.3225-3233
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Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia
Author / Creator:Mencacci, Niccolò E ; Brockmann, Marisa M ; Dai, Jinye ; Pajusalu, Sander ; Atasu, Burcu ; Campos, Joaquin ; Pino, Gabriela ; Gonzalez-Latapi, Paulina ; Patzke, Christopher ; Schwake, Michael ; Tucci, Arianna ; Pittman, Alan ; Simon-Sanchez, Javier ; Carvill, Gemma L ; Balint, Bettina ; Wiethoff, Sarah ; Warner, Thomas T ; Papandreou, Apostolos ; Soo, Audrey ; Rein, Reet ; Kadastik-Eerme, Liis ; Puusepp, Sanna ; Reinson, Karit ; Tomberg, Tiiu ; Hanagasi, Hasmet ; Gasser, Thomas ; Bhatia, Kailash P ; Kurian, Manju A ; Lohmann, Ebba ; Õunap, Katrin ; Rosenmund, Christian ; Südhof, Thomas C ; Wood, Nicholas W ; Krainc, Dimitri ; Acuna, Claudio
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2021-04, Vol.131 (7), p.1-14
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Dystonia management across Europe within ERN-RND: current state and future challenges
Author / Creator:Centen, Liesanne M. ; Pinter, David ; van Egmond, Martje E. ; Graessner, Holm ; Kovacs, Norbert ; Koy, Anne ; Perez-Dueñas, Belen ; Reinhard, Carola ; Tijssen, Marina A. J. ; Boesch, Sylvia
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2023-02, Vol.270 (2), p.797-809
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A Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia: A Case Report
Author / Creator:Costa, António ; Pereira, Diogo ; Malaquias, Maria João ; Brandão, Ana Filipa ; Oliveira, Jorge ; Magalhães, Marina
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2025-01, Vol.26 (2), p.809
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Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants
Author / Creator:Salamon, András ; Nagy, Zsófia Flóra ; Pál, Margit ; Szabó, Máté ; Csősz, Ádám ; Szpisjak, László ; Gárdián, Gabriella ; Zádori, Dénes ; Széll, Márta ; Klivényi, Péter
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-06, Vol.24 (13), p.10745
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Update on the Genetics of Dystonia
Author / Creator:Lohmann, Katja ; Klein, Christine
Publisher:New York: Springer US
Journal title:Current neurology and neuroscience reports, 2017-03, Vol.17 (3), p.26-26, Article 26
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Cerebellar Dysfunction as a Source of Dystonic Phenotypes in Mice
Author / Creator:Brown, Amanda M. ; van der Heijden, Meike E. ; Jinnah, H. A. ; Sillitoe, Roy V.
Publisher:New York: Springer US
Journal title:Cerebellum (London, England), 2023-08, Vol.22 (4), p.719-729
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The neural substrates of rapid-onset Dystonia-Parkinsonism
Author / Creator:Calderon, D Paola ; Fremont, Rachel ; Kraenzlin, Franca ; Khodakhah, Kamran
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2011-03, Vol.14 (3), p.357-365
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SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene
Author / Creator:Petrozziello, Tiziana ; Dios, Amanda M ; Mueller, Kaly A ; Vaine, Christine A ; Hendriks, William T ; Glajch, Kelly E ; Mills, Alexandra N ; Mangkalaphiban, Kotchaphorn ; Penney, Ellen B ; Ito, Naoto ; Fernandez-Cerado, Cara ; Legarda, Gierold Paul A ; Velasco-Andrada, M Salvie ; Acuña, Patrick J ; Ang, Mark A ; Muñoz, Edwin L ; Diesta, Cid Czarina E ; Macalintal-Canlas, Regina ; Acuña, Geraldine ; Sharma, Nutan ; Ozelius, Laurie J ; Bragg, D Cristopher ; Sadri-Vakili, Ghazaleh
Publisher:United States: Public Library of Science
Journal title:PloS one, 2020-12, Vol.15 (12), p.e0243655-e0243655
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Oculomotor abnormalities indicate early executive dysfunction in prodromal X-linked dystonia-parkinsonism (XDP)
Author / Creator:Mertin, Renana ; Diesta, Cid ; Brüggemann, Norbert ; Rosales, Raymond L. ; Hanssen, Henrike ; Westenberger, Ana ; Steinhardt, Julia ; Heldmann, Marcus ; Manalo, Hans T. S. ; Oropilla, Jean Q. ; Klein, Christine ; Helmchen, Christoph ; Sprenger, Andreas
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2023-09, Vol.270 (9), p.4262-4275
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Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum
Author / Creator:Higuchi, Yujiro ; Ando, Masahiro ; Kojima, Fumikazu ; Yuan, Junhui ; Hashiguchi, Akihiro ; Yoshimura, Akiko ; Hiramatsu, Yu ; Nozuma, Satoshi ; Fukumura, Shinobu ; Yahikozawa, Hiroyuki ; Abe, Erika ; Toyoshima, Itaru ; Sugawara, Masashiro ; Okamoto, Yuji ; Matsuura, Eiji ; Takashima, Hiroshi
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2024-01, Vol.271 (1), p.419-430
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New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)
Author / Creator:Domingo, Aloysius ; Westenberger, Ana ; Lee, Lillian V ; Brænne, Ingrid ; Liu, Tian ; Vater, Inga ; Rosales, Raymond ; Jamora, Roland Dominic ; Pasco, Paul Matthew ; Cutiongco-Dela Paz, Eva Maria ; Freimann, Karen ; Schmidt, Thomas Gpm ; Dressler, Dirk ; Kaiser, Frank J ; Bertram, Lars ; Erdmann, Jeanette ; Lohmann, Katja ; Klein, Christine
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1334-1340
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Genetic Dystonias: Update on Classification and New Genetic Discoveries
Author / Creator:Keller Sarmiento, Ignacio Juan ; Mencacci, Niccolò Emanuele
Publisher:New York: Springer US
Journal title:Current neurology and neuroscience reports, 2021-03, Vol.21 (3), p.8-8, Article 8
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Serotonergic system in vivo with [11C]DASB PET scans in GTP-cyclohydrolase deficient dopa-responsive dystonia patients
Author / Creator:Timmers, Elze R. ; Peretti, Débora E. ; Smit, Marenka ; de Jong, Bauke M. ; Dierckx, Rudi A. J. O. ; Kuiper, Anouk ; de Koning, Tom J. ; Vállez García, David ; Tijssen, Marina A. J.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-04, Vol.12 (1), p.6292-6292, Article 6292
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Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1

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Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

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Dystonia

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Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study

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A microstructural neural network biomarker for dystonia diagnosis identified by a DystoniaNet deep learning platform

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Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese population

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Mutation screening of AOPEP variants in a large dystonia cohort

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Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia

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Dystonia management across Europe within ERN-RND: current state and future challenges

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A Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia: A Case Report

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Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants

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Update on the Genetics of Dystonia

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Cerebellar Dysfunction as a Source of Dystonic Phenotypes in Mice

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The neural substrates of rapid-onset Dystonia-Parkinsonism

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SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene

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Oculomotor abnormalities indicate early executive dysfunction in prodromal X-linked dystonia-parkinsonism (XDP)

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Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum

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New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)

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Genetic Dystonias: Update on Classification and New Genetic Discoveries

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Serotonergic system in vivo with [11C]DASB PET scans in GTP-cyclohydrolase deficient dopa-responsive dystonia patients

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