Maria Bozi, Kailash P Bhatia. Mov Disord 2003
Times Cited: 46
Times Cited: 46
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
43
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
34
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
30
Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes.
J W Lance. Ann Neurol 1977
J W Lance. Ann Neurol 1977
28
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
Hsien-Yang Lee, Ying Xu, Yong Huang, Andrew H Ahn, Georg W J Auburger, Massimo Pandolfo, Hubert Kwiecinski, David A Grimes, Anthony E Lang, Jorgen E Nielsen,[...]. Hum Mol Genet 2004
Hsien-Yang Lee, Ying Xu, Yong Huang, Andrew H Ahn, Georg W J Auburger, Massimo Pandolfo, Hubert Kwiecinski, David A Grimes, Anthony E Lang, Jorgen E Nielsen,[...]. Hum Mol Genet 2004
26
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
26
Paroxysmal exercise-induced dystonia: eight new sporadic cases and a review of the literature.
K P Bhatia, V L Soland, M H Bhatt, N P Quinn, C D Marsden. Mov Disord 1997
K P Bhatia, V L Soland, M H Bhatt, N P Quinn, C D Marsden. Mov Disord 1997
23
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder.
Wei Du, Jocelyn F Bautista, Huanghe Yang, Ana Diez-Sampedro, Sun-Ah You, Lejin Wang, Prakash Kotagal, Hans O Lüders, Jingyi Shi, Jianmin Cui,[...]. Nat Genet 2005
Wei Du, Jocelyn F Bautista, Huanghe Yang, Ana Diez-Sampedro, Sun-Ah You, Lejin Wang, Prakash Kotagal, Hans O Lüders, Jingyi Shi, Jianmin Cui,[...]. Nat Genet 2005
23
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
23
Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.
Shirley Rainier, Donald Thomas, Debra Tokarz, Lei Ming, Melanie Bui, Erin Plein, Xinping Zhao, Rosemary Lemons, Roger Albin, Colin Delaney,[...]. Arch Neurol 2004
Shirley Rainier, Donald Thomas, Debra Tokarz, Lei Ming, Melanie Bui, Erin Plein, Xinping Zhao, Rosemary Lemons, Roger Albin, Colin Delaney,[...]. Arch Neurol 2004
23
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.
P Szepetowski, J Rochette, P Berquin, C Piussan, G M Lathrop, A P Monaco. Am J Hum Genet 1997
P Szepetowski, J Rochette, P Berquin, C Piussan, G M Lathrop, A P Monaco. Am J Hum Genet 1997
21
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
21
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
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study.
A Münchau, E M Valente, G A Shahidi, L H Eunson, M G Hanna, N P Quinn, A H Schapira, N W Wood, K P Bhatia. J Neurol Neurosurg Psychiatry 2000
A Münchau, E M Valente, G A Shahidi, L H Eunson, M G Hanna, N P Quinn, A H Schapira, N W Wood, K P Bhatia. J Neurol Neurosurg Psychiatry 2000
19
Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied.
A Kertesz. Neurology 1967
A Kertesz. Neurology 1967
19
Familial paroxysmal dystonia induced by exercise.
G T Plant, A C Williams, C J Earl, C D Marsden. J Neurol Neurosurg Psychiatry 1984
G T Plant, A C Williams, C J Earl, C D Marsden. J Neurol Neurosurg Psychiatry 1984
17
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene.
Sian D Spacey, Enza-Maria Valente, Gurusidheshwar M Wali, Thomas T Warner, Paul R Jarman, Anthony H V Schapira, Peter H Dixon, Mary B Davis, Kailash P Bhatia, Nicholas W Wood. Mov Disord 2002
Sian D Spacey, Enza-Maria Valente, Gurusidheshwar M Wali, Thomas T Warner, Paul R Jarman, Anthony H V Schapira, Peter H Dixon, Mary B Davis, Kailash P Bhatia, Nicholas W Wood. Mov Disord 2002
17
A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16.
E M Valente, S D Spacey, G M Wali, K P Bhatia, P H Dixon, N W Wood, M B Davis. Brain 2000
E M Valente, S D Spacey, G M Wali, K P Bhatia, P H Dixon, N W Wood, M B Davis. Brain 2000
17
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
Susanne A Schneider, Coro Paisan-Ruiz, Ines Garcia-Gorostiaga, Niall P Quinn, Yvonne G Weber, Holger Lerche, John Hardy, Kailash P Bhatia. Mov Disord 2009
Susanne A Schneider, Coro Paisan-Ruiz, Ines Garcia-Gorostiaga, Niall P Quinn, Yvonne G Weber, Holger Lerche, John Hardy, Kailash P Bhatia. Mov Disord 2009
17
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
17
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
17
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
17
Parkin disease: a phenotypic study of a large case series.
Naheed L Khan, Elizabeth Graham, Peter Critchley, Anette E Schrag, Nicholas W Wood, Andrew J Lees, Kailash P Bhatia, Niall Quinn. Brain 2003
Naheed L Khan, Elizabeth Graham, Peter Critchley, Anette E Schrag, Nicholas W Wood, Andrew J Lees, Kailash P Bhatia, Niall Quinn. Brain 2003
15
Kinesigenic foot dystonia as a presenting feature of Parkinson's disease.
A J Lees, R J Hardie, G M Stern. J Neurol Neurosurg Psychiatry 1984
A J Lees, R J Hardie, G M Stern. J Neurol Neurosurg Psychiatry 1984
21
[(123)I]-FP-CIT-SPECT in the early diagnosis of PD presenting as exercise-induced dystonia.
Regina Katzenschlager, Durval Costa, Svetislav Gacinovic, Andrew J Lees. Neurology 2002
Regina Katzenschlager, Durval Costa, Svetislav Gacinovic, Andrew J Lees. Neurology 2002
36
Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease.
Michiko K Bruno, Bernard Ravina, Gaetan Garraux, Mark Hallett, Louis Ptacek, Amanda Singleton, Janel Johnson, Andrew Singleton, Melissa Hanson, Elaine Considine,[...]. Mov Disord 2004
Michiko K Bruno, Bernard Ravina, Gaetan Garraux, Mark Hallett, Louis Ptacek, Amanda Singleton, Janel Johnson, Andrew Singleton, Melissa Hanson, Elaine Considine,[...]. Mov Disord 2004
43
Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.
H a Tomita, S Nagamitsu, K Wakui, Y Fukushima, K Yamada, M Sadamatsu, A Masui, T Konishi, T Matsuishi, M Aihara,[...]. Am J Hum Genet 1999
H a Tomita, S Nagamitsu, K Wakui, Y Fukushima, K Yamada, M Sadamatsu, A Masui, T Konishi, T Matsuishi, M Aihara,[...]. Am J Hum Genet 1999
15
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
15
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
15
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
15
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
15
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
15
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
15
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
15
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
15
Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.
R Guerrini, P Bonanni, N Nardocci, L Parmeggiani, M Piccirilli, M De Fusco, P Aridon, A Ballabio, R Carrozzo, G Casari. Ann Neurol 1999
R Guerrini, P Bonanni, N Nardocci, L Parmeggiani, M Piccirilli, M De Fusco, P Aridon, A Ballabio, R Carrozzo, G Casari. Ann Neurol 1999
13
Changes in perfusion pattern using ECD-SPECT indicate frontal lobe and cerebellar involvement in exercise-induced paroxysmal dystonia.
A Kluge, B Kettner, R Zschenderlein, D Sandrock, D L Munz, S Hesse, H Meierkord. Mov Disord 1998
A Kluge, B Kettner, R Zschenderlein, D Sandrock, D L Munz, S Hesse, H Meierkord. Mov Disord 1998
13
Paroxysmal dystonia induced by exercise and acetazolamide.
J Guimarães, J Vale Santos. Eur J Neurol 2000
J Guimarães, J Vale Santos. Eur J Neurol 2000
42
From nocturnal paroxysmal dystonia to nocturnal frontal lobe epilepsy.
F Provini, G Plazzi, E Lugaresi. Clin Neurophysiol 2000
F Provini, G Plazzi, E Lugaresi. Clin Neurophysiol 2000
13
Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies.
K J Swoboda, B Soong, C McKenna, E R Brunt, M Litt, J F Bale, T Ashizawa, L B Bennett, A M Bowcock, E S Roach,[...]. Neurology 2000
K J Swoboda, B Soong, C McKenna, E R Brunt, M Litt, J F Bale, T Ashizawa, L B Bennett, A M Bowcock, E S Roach,[...]. Neurology 2000
13
A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.
G Auburger, T Ratzlaff, A Lunkes, H W Nelles, B Leube, F Binkofski, H Kugel, W Heindel, R Seitz, R Benecke,[...]. Genomics 1996
G Auburger, T Ratzlaff, A Lunkes, H W Nelles, B Leube, F Binkofski, H Kugel, W Heindel, R Seitz, R Benecke,[...]. Genomics 1996
13
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
13
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
13
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
13
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.
Shinji Ono, Koh-ichiro Yoshiura, Akira Kinoshita, Taeko Kikuchi, Yoshibumi Nakane, Nobumasa Kato, Miyuki Sadamatsu, Tohru Konishi, Shinichiro Nagamitsu, Masato Matsuura,[...]. J Hum Genet 2012
Shinji Ono, Koh-ichiro Yoshiura, Akira Kinoshita, Taeko Kikuchi, Yoshibumi Nakane, Nobumasa Kato, Miyuki Sadamatsu, Tohru Konishi, Shinichiro Nagamitsu, Masato Matsuura,[...]. J Hum Genet 2012
13
Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.
Mathieu Anheim, Elisabeth Maillart, Sandrine Vuillaumier-Barrot, Constance Flamand-Rouvière, Fanny Pineau, Claire Ewenczyk, Florence Riant, Emmanuelle Apartis, Emmanuel Roze. J Neurol 2011
Mathieu Anheim, Elisabeth Maillart, Sandrine Vuillaumier-Barrot, Constance Flamand-Rouvière, Fanny Pineau, Claire Ewenczyk, Florence Riant, Emmanuelle Apartis, Emmanuel Roze. J Neurol 2011
18
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
13
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.