Wo-Tu Tian, Fei-Xia Zhan, Zhen-Hua Liu, Zhe Liu, Qing Liu, Xia-Nan Guo, Zai-Wei Zhou, Shi-Ge Wang, Xiao-Rong Liu, Hong Jiang, Xun-Hua Li, Guo-Hua Zhao, Hai-Yan Li, Jian-Guang Tang, Guang-Hui Bi, Ping Zhong, Xiao-Meng Yin, Tao-Tao Liu, Rui-Long Ni, Hao-Ran Zheng, Xiao-Li Liu, Xiao-Hang Qian, Jing-Ying Wu, Yu-Wen Cao, Chao Zhang, Shi-Hua Liu, Ying-Ying Wu, Qun-Feng Wang, Ting Xu, Wen-Zhe Hou, Zi-Yi Li, Hui-Yi Ke, Ze-Yu Zhu, Lan Zheng, Tian Wang, Tian-Yi Rong, Li Wu, Yu Zhang, Kan Fang, Zhan-Hang Wang, Ya-Kun Zhang, Mei Zhang, Yu-Wu Zhao, Bei-Sha Tang, Xing-Hua Luan, Xiao-Jun Huang, Li Cao. Mov Disord 2022
Times Cited: 3
Times Cited: 3
List of co-cited articles
4 articles co-cited >1
Times Cited
Times Co-cited
Similarity
Exome-Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene.
Yun-Lu Li, Wen-Qi Lv, Yi-Heng Zeng, Yi-Kun Chen, Xian-Long Wang, Kang Yang, Yuan-Liang Ding, Ru-Kai Chen, Ning Wang, Wan-Jin Chen. Mov Disord 2022
Yun-Lu Li, Wen-Qi Lv, Yi-Heng Zeng, Yi-Kun Chen, Xian-Long Wang, Kang Yang, Yuan-Liang Ding, Ru-Kai Chen, Ning Wang, Wan-Jin Chen. Mov Disord 2022
100
Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants.
Yu-Lan Chen, Dian-Fu Chen, Hong-Fu Li, Zhi-Ying Wu. Mov Disord 2022
Yu-Lan Chen, Dian-Fu Chen, Hong-Fu Li, Zhi-Ying Wu. Mov Disord 2022
100
TMEM151A variants cause paroxysmal kinesigenic dyskinesia.
Hong-Fu Li, Yu-Lan Chen, Ling Zhuang, Dian-Fu Chen, Hua-Zhen Ke, Wen-Jiao Luo, Gong-Lu Liu, Sheng-Nan Wu, Wen-Hao Zhou, Zhi-Qi Xiong,[...]. Cell Discov 2021
Hong-Fu Li, Yu-Lan Chen, Ling Zhuang, Dian-Fu Chen, Hua-Zhen Ke, Wen-Jiao Luo, Gong-Lu Liu, Sheng-Nan Wu, Wen-Hao Zhou, Zhi-Qi Xiong,[...]. Cell Discov 2021
66
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
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Increased diagnostic yield in complex dystonia through exome sequencing.
Thomas Wirth, Christine Tranchant, Nathalie Drouot, Boris Keren, Cyril Mignot, Laura Cif, Romain Lefaucheur, Laurence Lion-François, Aurélie Méneret, Domitille Gras,[...]. Parkinsonism Relat Disord 2020
Thomas Wirth, Christine Tranchant, Nathalie Drouot, Boris Keren, Cyril Mignot, Laura Cif, Romain Lefaucheur, Laurence Lion-François, Aurélie Méneret, Domitille Gras,[...]. Parkinsonism Relat Disord 2020
33
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.
Aurélie Méneret, David Grabli, Christel Depienne, Cécile Gaudebout, Fabienne Picard, Alexandra Dürr, Isabelle Lagroua, Delphine Bouteiller, Cyril Mignot, Diane Doummar,[...]. Neurology 2012
Aurélie Méneret, David Grabli, Christel Depienne, Cécile Gaudebout, Fabienne Picard, Alexandra Dürr, Isabelle Lagroua, Delphine Bouteiller, Cyril Mignot, Diane Doummar,[...]. Neurology 2012
33
Paroxysmal movement disorders - practical update on diagnosis and management.
Claudio M De Gusmao, Laura Silveira-Moriyama. Expert Rev Neurother 2019
Claudio M De Gusmao, Laura Silveira-Moriyama. Expert Rev Neurother 2019
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Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.
Kelsey Paulhus, Lauren Ammerman, Edward Glasscock. Int J Mol Sci 2020
Kelsey Paulhus, Lauren Ammerman, Edward Glasscock. Int J Mol Sci 2020
33
When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.
Kymberleigh A Pagel, Vikas Pejaver, Guan Ning Lin, Hyun-Jun Nam, Matthew Mort, David N Cooper, Jonathan Sebat, Lilia M Iakoucheva, Sean D Mooney, Predrag Radivojac. Bioinformatics 2017
Kymberleigh A Pagel, Vikas Pejaver, Guan Ning Lin, Hyun-Jun Nam, Matthew Mort, David N Cooper, Jonathan Sebat, Lilia M Iakoucheva, Sean D Mooney, Predrag Radivojac. Bioinformatics 2017
33
The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
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33
CHRNA4 variant causes paroxysmal kinesigenic dyskinesia and genetic epilepsy with febrile seizures plus?
Yong-Li Jiang, Fang Yuan, Ying Yang, Xiao-Long Sun, Lu Song, Wen Jiang. Seizure 2018
Yong-Li Jiang, Fang Yuan, Ying Yang, Xiao-Long Sun, Lu Song, Wen Jiang. Seizure 2018
33
Classification of paroxysmal dyskinesias and ataxias.
Joseph Jankovic, Meltem Demirkiran. Adv Neurol 2002
Joseph Jankovic, Meltem Demirkiran. Adv Neurol 2002
33
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.
Shuang Li, K Joeri van der Velde, Dick de Ridder, Aalt D J van Dijk, Dimitrios Soudis, Leslie R Zwerwer, Patrick Deelen, Dennis Hendriksen, Bart Charbon, Marielle E van Gijn,[...]. Genome Med 2020
Shuang Li, K Joeri van der Velde, Dick de Ridder, Aalt D J van Dijk, Dimitrios Soudis, Leslie R Zwerwer, Patrick Deelen, Dennis Hendriksen, Bart Charbon, Marielle E van Gijn,[...]. Genome Med 2020
33
Phenomenology and classification of dystonia: a consensus update.
Alberto Albanese, Kailash Bhatia, Susan B Bressman, Mahlon R Delong, Stanley Fahn, Victor S C Fung, Mark Hallett, Joseph Jankovic, Hyder A Jinnah, Christine Klein,[...]. Mov Disord 2013
Alberto Albanese, Kailash Bhatia, Susan B Bressman, Mahlon R Delong, Stanley Fahn, Victor S C Fung, Mark Hallett, Joseph Jankovic, Hyder A Jinnah, Christine Klein,[...]. Mov Disord 2013
33
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.
Giacomo Garone, Alessandro Capuano, Lorena Travaglini, Federica Graziola, Fabrizia Stregapede, Ginevra Zanni, Federico Vigevano, Enrico Bertini, Francesco Nicita. Int J Mol Sci 2020
Giacomo Garone, Alessandro Capuano, Lorena Travaglini, Federica Graziola, Fabrizia Stregapede, Ginevra Zanni, Federico Vigevano, Enrico Bertini, Francesco Nicita. Int J Mol Sci 2020
33
CADD: predicting the deleteriousness of variants throughout the human genome.
Philipp Rentzsch, Daniela Witten, Gregory M Cooper, Jay Shendure, Martin Kircher. Nucleic Acids Res 2019
Philipp Rentzsch, Daniela Witten, Gregory M Cooper, Jay Shendure, Martin Kircher. Nucleic Acids Res 2019
33
Identification of Two Novel Mutations in COG5 Causing Congenital Disorder of Glycosylation.
Xi Wang, Lin Han, Xiao-Yan Wang, Jian-Hong Wang, Xiao-Meng Li, Chun-Hua Jin, Lin Wang. Front Genet 2020
Xi Wang, Lin Han, Xiao-Yan Wang, Jian-Hong Wang, Xiao-Meng Li, Chun-Hua Jin, Lin Wang. Front Genet 2020
33
MutationTaster2021.
Robin Steinhaus, Sebastian Proft, Markus Schuelke, David N Cooper, Jana Marie Schwarz, Dominik Seelow. Nucleic Acids Res 2021
Robin Steinhaus, Sebastian Proft, Markus Schuelke, David N Cooper, Jana Marie Schwarz, Dominik Seelow. Nucleic Acids Res 2021
33
An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome.
Michael Ferlaino, Mark F Rogers, Hashem A Shihab, Matthew Mort, David N Cooper, Tom R Gaunt, Colin Campbell. BMC Bioinformatics 2017
Michael Ferlaino, Mark F Rogers, Hashem A Shihab, Matthew Mort, David N Cooper, Tom R Gaunt, Colin Campbell. BMC Bioinformatics 2017
33
Genetic updates on paroxysmal dyskinesias.
James Y Liao, Philippe A Salles, Umar A Shuaib, Hubert H Fernandez. J Neural Transm (Vienna) 2021
James Y Liao, Philippe A Salles, Umar A Shuaib, Hubert H Fernandez. J Neural Transm (Vienna) 2021
33
Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy.
Maxime Cadieux-Dion, Simone Meneghini, Chiara Villa, Dènahin Hinnoutondji Toffa, Ronny Wickstrom, Alain Bouthillier, Ulrika Sandvik, Bengt Gustavsson, Ismail Mohamed, Patrick Cossette,[...]. Can J Neurol Sci 2020
Maxime Cadieux-Dion, Simone Meneghini, Chiara Villa, Dènahin Hinnoutondji Toffa, Ronny Wickstrom, Alain Bouthillier, Ulrika Sandvik, Bengt Gustavsson, Ismail Mohamed, Patrick Cossette,[...]. Can J Neurol Sci 2020
33
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
Peter D Stenson, Matthew Mort, Edward V Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D Phillips, David N Cooper. Hum Genet 2017
Peter D Stenson, Matthew Mort, Edward V Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D Phillips, David N Cooper. Hum Genet 2017
33
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Xiao-Meng Yin, Jing-Han Lin, Li Cao, Tong-Mei Zhang, Sheng Zeng, Kai-Lin Zhang, Wo-Tu Tian, Zheng-Mao Hu, Nan Li, Jun-Ling Wang,[...]. Hum Mol Genet 2018
Xiao-Meng Yin, Jing-Han Lin, Li Cao, Tong-Mei Zhang, Sheng Zeng, Kai-Lin Zhang, Wo-Tu Tian, Zheng-Mao Hu, Nan Li, Jun-Ling Wang,[...]. Hum Mol Genet 2018
33
Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.
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M K Bruno, M Hallett, K Gwinn-Hardy, B Sorensen, E Considine, S Tucker, D R Lynch, K D Mathews, K J Swoboda, J Harris,[...]. Neurology 2004
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Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.
Wenqing Fu, Timothy D O'Connor, Goo Jun, Hyun Min Kang, Goncalo Abecasis, Suzanne M Leal, Stacey Gabriel, Mark J Rieder, David Altshuler, Jay Shendure,[...]. Nature 2013
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SIFT web server: predicting effects of amino acid substitutions on proteins.
Ngak-Leng Sim, Prateek Kumar, Jing Hu, Steven Henikoff, Georg Schneider, Pauline C Ng. Nucleic Acids Res 2012
Ngak-Leng Sim, Prateek Kumar, Jing Hu, Steven Henikoff, Georg Schneider, Pauline C Ng. Nucleic Acids Res 2012
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Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.
Jun-Ling Wang, Li Cao, Xun-Hua Li, Zheng-Mao Hu, Jia-Da Li, Jian-Guo Zhang, Yu Liang, San-A, Nan Li, Su-Qin Chen,[...]. Brain 2011
Jun-Ling Wang, Li Cao, Xun-Hua Li, Zheng-Mao Hu, Jia-Da Li, Jian-Guo Zhang, Yu Liang, San-A, Nan Li, Su-Qin Chen,[...]. Brain 2011
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Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
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A global reference for human genetic variation.
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
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Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
Sarah E Heron, Leanne M Dibbens. J Med Genet 2013
Sarah E Heron, Leanne M Dibbens. J Med Genet 2013
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PRRT2 modulates presynaptic Ca2+ influx by interacting with P/Q-type channels.
Daniele Ferrante, Bruno Sterlini, Cosimo Prestigio, Antonella Marte, Anna Corradi, Franco Onofri, Giorgio Tortarolo, Giuseppe Vicidomini, Andrea Petretto, Jessica Muià,[...]. Cell Rep 2021
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Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
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Wan-Jin Chen, Yu Lin, Zhi-Qi Xiong, Wei Wei, Wang Ni, Guo-He Tan, Shun-Ling Guo, Jin He, Ya-Fang Chen, Qi-Jie Zhang,[...]. Nat Genet 2011
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Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.
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Xiaoling Yang, Yuehua Zhang, Xiaojing Xu, Shuang Wang, Zhixian Yang, Ye Wu, Xiaoyan Liu, Xiru Wu. BMC Neurol 2013
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PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions.
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The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.
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Author Correction: TMEM151A variants cause paroxysmal kinesigenic dyskinesia.
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Cerebellar spreading depolarization mediates paroxysmal movement disorder.
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Paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients.
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PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
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33
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.