Claudio M De Gusmao, Laura Silveira-Moriyama. Expert Rev Neurother 2019
Times Cited: 8
Times Cited: 8
Times Cited
Times Co-cited
Similarity
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
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
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
50
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
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
37
Paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients.
Xiao-Jun Huang, Tian Wang, Jun-Ling Wang, Xiao-Li Liu, Xiang-Qian Che, Jin Li, Xiao Mao, Mei Zhang, Guang-Hui Bi, Li Wu,[...]. Neurology 2015
Xiao-Jun Huang, Tian Wang, Jun-Ling Wang, Xiao-Li Liu, Xiang-Qian Che, Jin Li, Xiao Mao, Mei Zhang, Guang-Hui Bi, Li Wu,[...]. Neurology 2015
25
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.
Laura Silveira-Moriyama, Alice R Gardiner, Esther Meyer, Mary D King, Martin Smith, Karl Rakshi, Alasdair Parker, Andrew A Mallick, Richard Brown, Grace Vassallo,[...]. Dev Med Child Neurol 2013
Laura Silveira-Moriyama, Alice R Gardiner, Esther Meyer, Mary D King, Martin Smith, Karl Rakshi, Alasdair Parker, Andrew A Mallick, Richard Brown, Grace Vassallo,[...]. Dev Med Child Neurol 2013
25
Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.
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
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
25
Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.
Roberto Erro, Una-Marie Sheerin, Kailash P Bhatia. Mov Disord 2014
Roberto Erro, Una-Marie Sheerin, Kailash P Bhatia. Mov Disord 2014
25
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
Yvonne G Weber, Alexander Storch, Thomas V Wuttke, Knut Brockmann, Judith Kempfle, Snezana Maljevic, Lucia Margari, Christoph Kamm, Susanne A Schneider, Stephan M Huber,[...]. J Clin Invest 2008
Yvonne G Weber, Alexander Storch, Thomas V Wuttke, Knut Brockmann, Judith Kempfle, Snezana Maljevic, Lucia Margari, Christoph Kamm, Susanne A Schneider, Stephan M Huber,[...]. J Clin Invest 2008
25
PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions.
Rianne van Vliet, Guido Breedveld, Johanneke de Rijk-van Andel, Eva Brilstra, Nienke Verbeek, Corien Verschuuren-Bemelmans, Maartje Boon, Johnny Samijn, Karin Diderich, Ingrid van de Laar,[...]. Neurology 2012
Rianne van Vliet, Guido Breedveld, Johanneke de Rijk-van Andel, Eva Brilstra, Nienke Verbeek, Corien Verschuuren-Bemelmans, Maartje Boon, Johnny Samijn, Karin Diderich, Ingrid van de Laar,[...]. Neurology 2012
25
The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.
Xiao-Jun Huang, Shi-Ge Wang, Xia-Nan Guo, Wo-Tu Tian, Fei-Xia Zhan, Ze-Yu Zhu, Xiao-Meng Yin, Qing Liu, Kai-Li Yin, Xiao-Rong Liu,[...]. Mov Disord 2020
Xiao-Jun Huang, Shi-Ge Wang, Xia-Nan Guo, Wo-Tu Tian, Fei-Xia Zhan, Ze-Yu Zhu, Xiao-Meng Yin, Qing Liu, Kai-Li Yin, Xiao-Rong Liu,[...]. Mov Disord 2020
25
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
Hsien-Yang Lee, Yong Huang, Nadine Bruneau, Patrice Roll, Elisha D O Roberson, Mark Hermann, Emily Quinn, James Maas, Robert Edwards, Tetsuo Ashizawa,[...]. Cell Rep 2012
Hsien-Yang Lee, Yong Huang, Nadine Bruneau, Patrice Roll, Elisha D O Roberson, Mark Hermann, Emily Quinn, James Maas, Robert Edwards, Tetsuo Ashizawa,[...]. Cell Rep 2012
25
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
25
PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.
Yi-Chung Lee, Ming-Jen Lee, Hsiang-Yu Yu, Chien Chen, Chang-Hung Hsu, Kon-Ping Lin, Kwong-Kum Liao, Ming-Hong Chang, Yi-Chu Liao, Bing-Wen Soong. PLoS One 2012
Yi-Chung Lee, Ming-Jen Lee, Hsiang-Yu Yu, Chien Chen, Chang-Hung Hsu, Kon-Ping Lin, Kwong-Kum Liao, Ming-Hong Chang, Yi-Chu Liao, Bing-Wen Soong. PLoS One 2012
25
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
25
The evolving spectrum of PRRT2-associated paroxysmal diseases.
Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein. Brain 2015
Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein. Brain 2015
25
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
40
FGF14 regulates presynaptic Ca2+ channels and synaptic transmission.
Haidun Yan, Juan L Pablo, Geoffrey S Pitt. Cell Rep 2013
Haidun Yan, Juan L Pablo, Geoffrey S Pitt. Cell Rep 2013
12
Cognitive impairment in children with CACNA1A mutations.
Veronique Humbertclaude, Florence Riant, Benjamin Krams, Valerie Zimmermann, Nicolas Nagot, Daniel Annequin, Bernard Echenne, Elisabeth Tournier-Lasserve, Agathe Roubertie. Dev Med Child Neurol 2020
Veronique Humbertclaude, Florence Riant, Benjamin Krams, Valerie Zimmermann, Nicolas Nagot, Daniel Annequin, Bernard Echenne, Elisabeth Tournier-Lasserve, Agathe Roubertie. Dev Med Child Neurol 2020
12
Emerging roles of Fgf14 in behavioral control.
Eriola Hoxha, Andrea Marcinnò, Francesca Montarolo, Linda Masante, Ilaria Balbo, Francesco Ravera, Fernanda Laezza, Filippo Tempia. Behav Brain Res 2019
Eriola Hoxha, Andrea Marcinnò, Francesca Montarolo, Linda Masante, Ilaria Balbo, Francesco Ravera, Fernanda Laezza, Filippo Tempia. Behav Brain Res 2019
12
Differential roles of NaV1.2 and NaV1.6 in regulating neuronal excitability at febrile temperature and distinct contributions to febrile seizures.
Mingyu Ye, Jun Yang, Cuiping Tian, Qiyu Zhu, Luping Yin, Shan Jiang, Mingpo Yang, Yousheng Shu. Sci Rep 2018
Mingyu Ye, Jun Yang, Cuiping Tian, Qiyu Zhu, Luping Yin, Shan Jiang, Mingpo Yang, Yousheng Shu. Sci Rep 2018
12
Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype.
Christopher L Groth, Brian D Berman. Tremor Other Hyperkinet Mov (N Y) 2018
Christopher L Groth, Brian D Berman. Tremor Other Hyperkinet Mov (N Y) 2018
12
The expanding spectrum of paroxysmal movement disorders: update from clinical features to therapeutics.
Eavan M McGovern, Emmanuel Roze, Timothy J Counihan. Curr Opin Neurol 2018
Eavan M McGovern, Emmanuel Roze, Timothy J Counihan. Curr Opin Neurol 2018
12
A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene.
J A Coebergh, D E Fransen van de Putte, I N Snoeck, C Ruivenkamp, A van Haeringen, L M Smit. Eur J Paediatr Neurol 2014
J A Coebergh, D E Fransen van de Putte, I N Snoeck, C Ruivenkamp, A van Haeringen, L M Smit. Eur J Paediatr Neurol 2014
12
Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene.
M Schesny, F Joncourt, Alexander A Tarnutzer. Cerebellum 2019
M Schesny, F Joncourt, Alexander A Tarnutzer. Cerebellum 2019
12
Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia.
Keiko Shimojima, Akihisa Okumura, Jun Natsume, Kaori Aiba, Hirokazu Kurahashi, Tetsuo Kubota, Kenji Yokochi, Toshiyuki Yamamoto. Brain Dev 2012
Keiko Shimojima, Akihisa Okumura, Jun Natsume, Kaori Aiba, Hirokazu Kurahashi, Tetsuo Kubota, Kenji Yokochi, Toshiyuki Yamamoto. Brain Dev 2012
12
Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders.
Véronique Humbertclaude, Benjamin Krams, Erika Nogue, Nicolas Nagot, Daniel Annequin, Barbara Tourniaire, Elisabeth Tournier-Lasserve, Florence Riant, Agathe Roubertie. Dev Med Child Neurol 2018
Véronique Humbertclaude, Benjamin Krams, Erika Nogue, Nicolas Nagot, Daniel Annequin, Barbara Tourniaire, Elisabeth Tournier-Lasserve, Florence Riant, Agathe Roubertie. Dev Med Child Neurol 2018
12
Genetic Variants Associated with Episodic Ataxia in Korea.
Kwang-Dong Choi, Ji-Soo Kim, Hyo-Jung Kim, Ileok Jung, Seong-Hae Jeong, Seung-Han Lee, Dong Uk Kim, Sang-Ho Kim, Seo Young Choi, Jin-Hong Shin,[...]. Sci Rep 2017
Kwang-Dong Choi, Ji-Soo Kim, Hyo-Jung Kim, Ileok Jung, Seong-Hae Jeong, Seung-Han Lee, Dong Uk Kim, Sang-Ho Kim, Seo Young Choi, Jin-Hong Shin,[...]. Sci Rep 2017
12
Structural evolution of tunneling oxide passivating contact upon thermal annealing.
Sungjin Choi, Kwan Hong Min, Myeong Sang Jeong, Jeong In Lee, Min Gu Kang, Hee-Eun Song, Yoonmook Kang, Hae-Seok Lee, Donghwan Kim, Ka-Hyun Kim. Sci Rep 2017
Sungjin Choi, Kwan Hong Min, Myeong Sang Jeong, Jeong In Lee, Min Gu Kang, Hee-Eun Song, Yoonmook Kang, Hae-Seok Lee, Donghwan Kim, Ka-Hyun Kim. Sci Rep 2017
14
Spinocerebellar Ataxia 27: Clinical Phenotype of Twin Sisters with FGF14 Deletion.
Alfonso Amado, Manuel Oscar Blanco, Alfredo Repáraz-Andrade. Neuropediatrics 2017
Alfonso Amado, Manuel Oscar Blanco, Alfredo Repáraz-Andrade. Neuropediatrics 2017
12
Intracellular Fibroblast Growth Factor 14: Emerging Risk Factor for Brain Disorders.
Jessica Di Re, Paul A Wadsworth, Fernanda Laezza. Front Cell Neurosci 2017
Jessica Di Re, Paul A Wadsworth, Fernanda Laezza. Front Cell Neurosci 2017
12
A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.
Karine Choquet, Roberta La Piana, Bernard Brais. Neurogenetics 2015
Karine Choquet, Roberta La Piana, Bernard Brais. Neurogenetics 2015
12
FGF14 is a regulator of KCNQ2/3 channels.
Juan Lorenzo Pablo, Geoffrey S Pitt. Proc Natl Acad Sci U S A 2017
Juan Lorenzo Pablo, Geoffrey S Pitt. Proc Natl Acad Sci U S A 2017
12
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Jonas Straub, Enrico D H Konrad, Johanna Grüner, Annick Toutain, Levinus A Bok, Megan T Cho, Heather P Crawford, Holly Dubbs, Ganka Douglas, Rebekah Jobling,[...]. Am J Hum Genet 2018
Jonas Straub, Enrico D H Konrad, Johanna Grüner, Annick Toutain, Levinus A Bok, Megan T Cho, Heather P Crawford, Holly Dubbs, Ganka Douglas, Rebekah Jobling,[...]. Am J Hum Genet 2018
12
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.
Hazrat Belal, Mitsuko Nakashima, Hiroshi Matsumoto, Kenji Yokochi, Mariko Taniguchi-Ikeda, Kazushi Aoto, Mohammed Badrul Amin, Azusa Maruyama, Hiroaki Nagase, Takeshi Mizuguchi,[...]. Hum Mutat 2018
Hazrat Belal, Mitsuko Nakashima, Hiroshi Matsumoto, Kenji Yokochi, Mariko Taniguchi-Ikeda, Kazushi Aoto, Mohammed Badrul Amin, Azusa Maruyama, Hiroaki Nagase, Takeshi Mizuguchi,[...]. Hum Mutat 2018
12
Identification of novel genetic causes of Rett syndrome-like phenotypes.
Fátima Lopes, Mafalda Barbosa, Adam Ameur, Gabriela Soares, Joaquim de Sá, Ana Isabel Dias, Guiomar Oliveira, Pedro Cabral, Teresa Temudo, Eulália Calado,[...]. J Med Genet 2016
Fátima Lopes, Mafalda Barbosa, Adam Ameur, Gabriela Soares, Joaquim de Sá, Ana Isabel Dias, Guiomar Oliveira, Pedro Cabral, Teresa Temudo, Eulália Calado,[...]. J Med Genet 2016
12
Increased ictal perfusion of the thalamus in paroxysmal kinesigenic dyskinesia.
S Shirane, M Sasaki, D Kogure, H Matsuda, T Hashimoto. J Neurol Neurosurg Psychiatry 2001
S Shirane, M Sasaki, D Kogure, H Matsuda, T Hashimoto. J Neurol Neurosurg Psychiatry 2001
12
Neurocircuitry models of posttraumatic stress disorder and beyond: a meta-analysis of functional neuroimaging studies.
Ronak Patel, R Nathan Spreng, Lisa M Shin, Todd A Girard. Neurosci Biobehav Rev 2012
Ronak Patel, R Nathan Spreng, Lisa M Shin, Todd A Girard. Neurosci Biobehav Rev 2012
12
Disrupted grey matter network morphology in pediatric posttraumatic stress disorder.
Running Niu, Du Lei, Fuqin Chen, Ying Chen, Xueling Suo, Lingjiang Li, Su Lui, Xiaoqi Huang, John A Sweeney, Qiyong Gong. Neuroimage Clin 2018
Running Niu, Du Lei, Fuqin Chen, Ying Chen, Xueling Suo, Lingjiang Li, Su Lui, Xiaoqi Huang, John A Sweeney, Qiyong Gong. Neuroimage Clin 2018
12
Measuring individual morphological relationship of cortical regions.
Xiang-Zhen Kong, Xu Wang, Lijie Huang, Yi Pu, Zetian Yang, Xiaobin Dang, Zonglei Zhen, Jia Liu. J Neurosci Methods 2014
Xiang-Zhen Kong, Xu Wang, Lijie Huang, Yi Pu, Zetian Yang, Xiaobin Dang, Zonglei Zhen, Jia Liu. J Neurosci Methods 2014
12
Hyperactive putamen in patients with paroxysmal kinesigenic choreoathetosis: a resting-state functional magnetic resonance imaging study.
Bo Zhou, Qin Chen, Qin Zhang, Lei Chen, Qiyong Gong, Huifang Shang, Hehan Tang, Dong Zhou. Mov Disord 2010
Bo Zhou, Qin Chen, Qin Zhang, Lei Chen, Qiyong Gong, Huifang Shang, Hehan Tang, Dong Zhou. Mov Disord 2010
12
Emerging concepts in the physiological basis of dystonia.
Angelo Quartarone, Mark Hallett. Mov Disord 2013
Angelo Quartarone, Mark Hallett. Mov Disord 2013
12
Perfusion abnormality of the caudate nucleus in patients with paroxysmal kinesigenic choreoathetosis.
Eun Yeon Joo, Seung Bong Hong, Woo Suk Tae, Jee Hyun Kim, Sun Jung Han, Dae Won Seo, Kyung-Han Lee, Myoung-Hee Kim, Seunghwan Kim, Mann Hyung Lee,[...]. Eur J Nucl Med Mol Imaging 2005
Eun Yeon Joo, Seung Bong Hong, Woo Suk Tae, Jee Hyun Kim, Sun Jung Han, Dae Won Seo, Kyung-Han Lee, Myoung-Hee Kim, Seunghwan Kim, Mann Hyung Lee,[...]. Eur J Nucl Med Mol Imaging 2005
12
Thalamocortical dysconnectivity in paroxysmal kinesigenic dyskinesia: Combining functional magnetic resonance imaging and diffusion tensor imaging.
Zhiliang Long, Qiang Xu, Huan-Huan Miao, Yang Yu, Mei-Ping Ding, Huafu Chen, Zhi-Rong Liu, Wei Liao. Mov Disord 2017
Zhiliang Long, Qiang Xu, Huan-Huan Miao, Yang Yu, Mei-Ping Ding, Huafu Chen, Zhi-Rong Liu, Wei Liao. Mov Disord 2017
12
Reduced postmovement cortical inhibition in patients with paroxysmal kinesigenic dyskinesia.
Wan-Yu Hsu, Kwong-Kum Liao, Yi-Jhan Tseng, Shang-Yeong Kwan, Rou-Shayn Chen, Yung-Yang Lin. Neurology 2013
Wan-Yu Hsu, Kwong-Kum Liao, Yi-Jhan Tseng, Shang-Yeong Kwan, Rou-Shayn Chen, Yung-Yang Lin. Neurology 2013
12
Corrigendum: GRETNA: a graph theoretical network analysis toolbox for imaging connectomics.
Jinhui Wang, Xindi Wang, Mingrui Xia, Xuhong Liao, Alan Evans, Yong He. Front Hum Neurosci 2015
Jinhui Wang, Xindi Wang, Mingrui Xia, Xuhong Liao, Alan Evans, Yong He. Front Hum Neurosci 2015
12
Network-based statistic: identifying differences in brain networks.
Andrew Zalesky, Alex Fornito, Edward T Bullmore. Neuroimage 2010
Andrew Zalesky, Alex Fornito, Edward T Bullmore. Neuroimage 2010
12
Automated anatomical labeling of activations in SPM using a macroscopic anatomical parcellation of the MNI MRI single-subject brain.
N Tzourio-Mazoyer, B Landeau, D Papathanassiou, F Crivello, O Etard, N Delcroix, B Mazoyer, M Joliot. Neuroimage 2002
N Tzourio-Mazoyer, B Landeau, D Papathanassiou, F Crivello, O Etard, N Delcroix, B Mazoyer, M Joliot. Neuroimage 2002
12
Network imaging biomarkers: insights and clinical applications in Parkinson's disease.
Katharina A Schindlbeck, David Eidelberg. Lancet Neurol 2018
Katharina A Schindlbeck, David Eidelberg. Lancet Neurol 2018
12
Similarity-based extraction of individual networks from gray matter MRI scans.
Betty M Tijms, Peggy Seriès, David J Willshaw, Stephen M Lawrie. Cereb Cortex 2012
Betty M Tijms, Peggy Seriès, David J Willshaw, Stephen M Lawrie. Cereb Cortex 2012
12
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.