A Méneret, E Roze. Rev Neurol (Paris) 2016
Times Cited: 36
Times Cited: 36
Times Cited
Times Co-cited
Similarity
Paroxysmal dyskinesias: clinical features and classification.
M Demirkiran, J Jankovic. Ann Neurol 1995
M Demirkiran, J Jankovic. Ann Neurol 1995
38
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
36
Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.
Fanny Mochel, Elodie Hainque, Domitille Gras, Isaac M Adanyeguh, Samantha Caillet, Bénédicte Héron, Agathe Roubertie, Elsa Kaphan, Romain Valabregue, Daisy Rinaldi,[...]. J Neurol Neurosurg Psychiatry 2016
Fanny Mochel, Elodie Hainque, Domitille Gras, Isaac M Adanyeguh, Samantha Caillet, Bénédicte Héron, Agathe Roubertie, Elsa Kaphan, Romain Valabregue, Daisy Rinaldi,[...]. J Neurol Neurosurg Psychiatry 2016
30
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Alice R Gardiner, Fatima Jaffer, Russell C Dale, Robyn Labrum, Roberto Erro, Esther Meyer, Georgia Xiromerisiou, Maria Stamelou, Matthew Walker, Dimitri Kullmann,[...]. Brain 2015
Alice R Gardiner, Fatima Jaffer, Russell C Dale, Robyn Labrum, Roberto Erro, Esther Meyer, Georgia Xiromerisiou, Maria Stamelou, Matthew Walker, Dimitri Kullmann,[...]. Brain 2015
30
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
30
Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
Tracey D Graves, Yoon-Hee Cha, Angelika F Hahn, Richard Barohn, Mohammed K Salajegheh, Robert C Griggs, Brian N Bundy, Joanna C Jen, Robert W Baloh, Michael G Hanna. Brain 2014
Tracey D Graves, Yoon-Hee Cha, Angelika F Hahn, Richard Barohn, Mohammed K Salajegheh, Robert C Griggs, Brian N Bundy, Joanna C Jen, Robert W Baloh, Michael G Hanna. Brain 2014
27
Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency.
Russell C Dale, Anna Melchers, Victor S C Fung, Padraic Grattan-Smith, Henry Houlden, John Earl. Dev Med Child Neurol 2010
Russell C Dale, Anna Melchers, Victor S C Fung, Padraic Grattan-Smith, Henry Houlden, John Earl. Dev Med Child Neurol 2010
29
Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia.
Jennifer Friedman, Annette Feigenbaum, Nathaniel Chuang, Jennifer Silhavy, Joseph G Gleeson. Neurology 2017
Jennifer Friedman, Annette Feigenbaum, Nathaniel Chuang, Jennifer Silhavy, Joseph G Gleeson. Neurology 2017
62
The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.
Roberto Erro, Kailash P Bhatia, Alberto J Espay, Pasquale Striano. Mov Disord 2017
Roberto Erro, Kailash P Bhatia, Alberto J Espay, Pasquale Striano. Mov Disord 2017
27
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
27
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
25
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Elena Gardella, Felicitas Becker, Rikke S Møller, Julian Schubert, Johannes R Lemke, Line H G Larsen, Hans Eiberg, Michael Nothnagel, Holger Thiele, Janine Altmüller,[...]. Ann Neurol 2016
Elena Gardella, Felicitas Becker, Rikke S Møller, Julian Schubert, Johannes R Lemke, Line H G Larsen, Hans Eiberg, Michael Nothnagel, Holger Thiele, Janine Altmüller,[...]. Ann Neurol 2016
25
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
Simone Olgiati, Matej Skorvanek, Marialuisa Quadri, Michelle Minneboo, Josja Graafland, Guido J Breedveld, Ramon Bonte, Zeliha Ozgur, Mirjam C G N van den Hout, Kees Schoonderwoerd,[...]. Mov Disord 2016
Simone Olgiati, Matej Skorvanek, Marialuisa Quadri, Michelle Minneboo, Josja Graafland, Guido J Breedveld, Ramon Bonte, Zeliha Ozgur, Mirjam C G N van den Hout, Kees Schoonderwoerd,[...]. Mov Disord 2016
25
GLUT1 deficiency syndrome: an update.
D Gras, E Roze, S Caillet, A Méneret, D Doummar, T Billette de Villemeur, M Vidailhet, F Mochel. Rev Neurol (Paris) 2014
D Gras, E Roze, S Caillet, A Méneret, D Doummar, T Billette de Villemeur, M Vidailhet, F Mochel. Rev Neurol (Paris) 2014
22
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
22
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.
Angelo Labate, Patrizia Tarantino, Maurizio Viri, Laura Mumoli, Monica Gagliardi, Antonino Romeo, Federico Zara, Grazia Annesi, Antonio Gambardella. Epilepsia 2012
Angelo Labate, Patrizia Tarantino, Maurizio Viri, Laura Mumoli, Monica Gagliardi, Antonino Romeo, Federico Zara, Grazia Annesi, Antonio Gambardella. Epilepsia 2012
22
ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention.
Abhimanyu Mahajan, Jules Constantinou, Christos Sidiropoulos. J Neurol 2017
Abhimanyu Mahajan, Jules Constantinou, Christos Sidiropoulos. J Neurol 2017
27
Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.
Marion Delcourt, Florence Riant, Josette Mancini, Mathieu Milh, Vincent Navarro, Emmanuel Roze, Véronique Humbertclaude, Christian Korff, Vincent Des Portes, Pierre Szepetowski,[...]. J Neurol Neurosurg Psychiatry 2015
Marion Delcourt, Florence Riant, Josette Mancini, Mathieu Milh, Vincent Navarro, Emmanuel Roze, Véronique Humbertclaude, Christian Korff, Vincent Des Portes, Pierre Szepetowski,[...]. J Neurol Neurosurg Psychiatry 2015
22
Unravelling of the paroxysmal dyskinesias.
Roberto Erro, Kailash P Bhatia. J Neurol Neurosurg Psychiatry 2019
Roberto Erro, Kailash P Bhatia. J Neurol Neurosurg Psychiatry 2019
23
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
Claudia Castiglioni, Daniela Verrigni, Cecilia Okuma, Alejandra Diaz, Karin Alvarez, Teresa Rizza, Rosalba Carrozzo, Enrico Bertini, Marcelo Miranda. Eur J Paediatr Neurol 2015
Claudia Castiglioni, Daniela Verrigni, Cecilia Okuma, Alejandra Diaz, Karin Alvarez, Teresa Rizza, Rosalba Carrozzo, Enrico Bertini, Marcelo Miranda. Eur J Paediatr Neurol 2015
24
New insights into the pathogenesis and therapeutics of episodic ataxia type 1.
Maria Cristina D'Adamo, Sonia Hasan, Luca Guglielmi, Ilenio Servettini, Marta Cenciarini, Luigi Catacuzzeno, Fabio Franciolini. Front Cell Neurosci 2015
Maria Cristina D'Adamo, Sonia Hasan, Luca Guglielmi, Ilenio Servettini, Marta Cenciarini, Luigi Catacuzzeno, Fabio Franciolini. Front Cell Neurosci 2015
19
PRRT2 mutations and paroxysmal disorders.
A Méneret, C Gaudebout, F Riant, M Vidailhet, C Depienne, E Roze. Eur J Neurol 2013
A Méneret, C Gaudebout, F Riant, M Vidailhet, C Depienne, E Roze. Eur J Neurol 2013
19
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
J C Jen, T D Graves, E J Hess, M G Hanna, R C Griggs, R W Baloh. Brain 2007
J C Jen, T D Graves, E J Hess, M G Hanna, R C Griggs, R W Baloh. Brain 2007
19
Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet.
Wilhelmina G Leen, Leena Mewasingh, Marcel M Verbeek, Erik-Jan Kamsteeg, Bart P van de Warrenburg, Michel A Willemsen. Mov Disord 2013
Wilhelmina G Leen, Leena Mewasingh, Marcel M Verbeek, Erik-Jan Kamsteeg, Bart P van de Warrenburg, Michel A Willemsen. Mov Disord 2013
22
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, Maike Leferink, Tom Hofste, Baziel G van Engelen, Ron A Wevers, Todd Arthur, Nadia Bahi-Buisson, Diana Ballhausen,[...]. Brain 2010
Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, Maike Leferink, Tom Hofste, Baziel G van Engelen, Ron A Wevers, Todd Arthur, Nadia Bahi-Buisson, Diana Ballhausen,[...]. Brain 2010
19
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
19
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Arvid Suls, Peter Dedeken, Karolien Goffin, Hilde Van Esch, Patrick Dupont, David Cassiman, Judith Kempfle, Thomas V Wuttke, Yvonne Weber, Holger Lerche,[...]. Brain 2008
Arvid Suls, Peter Dedeken, Karolien Goffin, Hilde Van Esch, Patrick Dupont, David Cassiman, Judith Kempfle, Thomas V Wuttke, Yvonne Weber, Holger Lerche,[...]. Brain 2008
19
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
25
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.
J C Jen, J Wan, T P Palos, B D Howard, R W Baloh. Neurology 2005
J C Jen, J Wan, T P Palos, B D Howard, R W Baloh. Neurology 2005
19
Episodic Ataxias: Clinical and Genetic Features.
Kwang-Dong Choi, Jae-Hwan Choi. J Mov Disord 2016
Kwang-Dong Choi, Jae-Hwan Choi. J Mov Disord 2016
19
Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.
Wo-Tu Tian, Xiao-Jun Huang, Xiao Mao, Qing Liu, Xiao-Li Liu, Sheng Zeng, Xia-Nan Guo, Jun-Yi Shen, Yang-Qi Xu, Hui-Dong Tang,[...]. Mov Disord 2018
Wo-Tu Tian, Xiao-Jun Huang, Xiao Mao, Qing Liu, Xiao-Li Liu, Sheng Zeng, Xia-Nan Guo, Jun-Yi Shen, Yang-Qi Xu, Hui-Dong Tang,[...]. Mov Disord 2018
31
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
Sarah E Heron, Bronwyn E Grinton, Sara Kivity, Zaid Afawi, Sameer M Zuberi, James N Hughes, Clair Pridmore, Bree L Hodgson, Xenia Iona, Lynette G Sadleir,[...]. Am J Hum Genet 2012
Sarah E Heron, Bronwyn E Grinton, Sara Kivity, Zaid Afawi, Sameer M Zuberi, James N Hughes, Clair Pridmore, Bree L Hodgson, Xenia Iona, Lynette G Sadleir,[...]. Am J Hum Genet 2012
19
ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.
Jennifer R Friedman, Aurélie Méneret, Dong-Hui Chen, Oriane Trouillard, Marie Vidailhet, Wendy H Raskind, Emmanuel Roze. Mov Disord 2016
Jennifer R Friedman, Aurélie Méneret, Dong-Hui Chen, Oriane Trouillard, Marie Vidailhet, Wendy H Raskind, Emmanuel Roze. Mov Disord 2016
20
Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.
Catherine A McWilliam, Cheryl K Ridout, Ruth M Brown, Robert C McWilliam, John Tolmie, Garry K Brown. Eur J Paediatr Neurol 2010
Catherine A McWilliam, Cheryl K Ridout, Ruth M Brown, Robert C McWilliam, John Tolmie, Garry K Brown. Eur J Paediatr Neurol 2010
21
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.
Tiago A Mestre, Andreea Manole, Heather MacDonald, Sheila Riazi, Natalia Kraeva, Michael G Hanna, Anthony E Lang, Roope Männikkö, Grace Yoon. Neurogenetics 2016
Tiago A Mestre, Andreea Manole, Heather MacDonald, Sheila Riazi, Natalia Kraeva, Michael G Hanna, Anthony E Lang, Roope Männikkö, Grace Yoon. Neurogenetics 2016
35
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
Alice R Gardiner, Kailash P Bhatia, Maria Stamelou, Russell C Dale, Manju A Kurian, Susanne A Schneider, G M Wali, Tim Counihan, Anthony H Schapira, Sian D Spacey,[...]. Neurology 2012
Alice R Gardiner, Kailash P Bhatia, Maria Stamelou, Russell C Dale, Manju A Kurian, Susanne A Schneider, G M Wali, Tim Counihan, Anthony H Schapira, Sian D Spacey,[...]. Neurology 2012
16
Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.
T D Graves, S Rajakulendran, S M Zuberi, H R Morris, S Schorge, M G Hanna, D M Kullmann. Neurology 2010
T D Graves, S Rajakulendran, S M Zuberi, H R Morris, S Schorge, M G Hanna, D M Kullmann. Neurology 2010
20
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
16
Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes.
J W Lance. Ann Neurol 1977
J W Lance. Ann Neurol 1977
16
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.
M K Bruno, H-Y Lee, G W J Auburger, A Friedman, J E Nielsen, A E Lang, E Bertini, P Van Bogaert, Y Averyanov, M Hallett,[...]. Neurology 2007
M K Bruno, H-Y Lee, G W J Auburger, A Friedman, J E Nielsen, A E Lang, E Bertini, P Van Bogaert, Y Averyanov, M Hallett,[...]. Neurology 2007
16
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
Dong-Hui Chen, Aurélie Méneret, Jennifer R Friedman, Olena Korvatska, Alona Gad, Emily S Bonkowski, Holly A Stessman, Diane Doummar, Cyril Mignot, Mathieu Anheim,[...]. Neurology 2015
Dong-Hui Chen, Aurélie Méneret, Jennifer R Friedman, Olena Korvatska, Alona Gad, Emily S Bonkowski, Holly A Stessman, Diane Doummar, Cyril Mignot, Mathieu Anheim,[...]. Neurology 2015
16
Successful treatment of disabling paroxysmal nonkinesigenic dyskinesia with deep brain stimulation of the globus pallidus internus.
Riaan van Coller, Pieter Slabbert, Janardan Vaidyanathan, Clara Schutte. Stereotact Funct Neurosurg 2014
Riaan van Coller, Pieter Slabbert, Janardan Vaidyanathan, Clara Schutte. Stereotact Funct Neurosurg 2014
35
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.
M Strupp, R Kalla, J Claassen, C Adrion, U Mansmann, T Klopstock, T Freilinger, H Neugebauer, R Spiegel, M Dichgans,[...]. Neurology 2011
M Strupp, R Kalla, J Claassen, C Adrion, U Mansmann, T Klopstock, T Freilinger, H Neugebauer, R Spiegel, M Dichgans,[...]. Neurology 2011
16
Phenotypes, genotypes, and the management of paroxysmal movement disorders.
Laura Silveira-Moriyama, Stjepana Kovac, Manju A Kurian, Henry Houlden, Andrew J Lees, Matthew C Walker, Emmanuel Roze, Alex R Paciorkowski, Jonathan W Mink, Thomas T Warner. Dev Med Child Neurol 2018
Laura Silveira-Moriyama, Stjepana Kovac, Manju A Kurian, Henry Houlden, Andrew J Lees, Matthew C Walker, Emmanuel Roze, Alex R Paciorkowski, Jonathan W Mink, Thomas T Warner. Dev Med Child Neurol 2018
31
The spectrum of movement disorders in Glut-1 deficiency.
Roser Pons, Abbie Collins, Michael Rotstein, Kristin Engelstad, Darryl C De Vivo. Mov Disord 2010
Roser Pons, Abbie Collins, Michael Rotstein, Kristin Engelstad, Darryl C De Vivo. Mov Disord 2010
16
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
A Escayg, M De Waard, D D Lee, D Bichet, P Wolf, T Mayer, J Johnston, R Baloh, T Sander, M H Meisler. Am J Hum Genet 2000
A Escayg, M De Waard, D D Lee, D Bichet, P Wolf, T Mayer, J Johnston, R Baloh, T Sander, M H Meisler. Am J Hum Genet 2000
16
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
50
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
46
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.
Miryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic,[...]. Parkinsonism Relat Disord 2017
Miryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic,[...]. Parkinsonism Relat Disord 2017
16
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.