A citation-based method for searching scientific literature

Axel Weber, Angelika Köhler, Andreas Hahn, Bernd Neubauer, Ulrich Müller. Neurogenetics 2013
Times Cited: 25







List of co-cited articles
232 articles co-cited >1



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
311
72

The evolving spectrum of PRRT2-associated paroxysmal diseases.
Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein. Brain 2015
149
64

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
178
56

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
180
52

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
204
52

Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion.
Russell C Dale, Padraic Grattan-Smith, Victor S C Fung, Greg B Peters. Neurology 2011
27
48

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
252
48

Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study.
Russell C Dale, Padraic Grattan-Smith, Michelle Nicholson, Greg B Peters. Dev Med Child Neurol 2012
59
44

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
50
44

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
62
40



Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.
Alexander J A Groffen, Thom Klapwijk, Anne-Fleur van Rootselaar, Justus L Groen, Marina A J Tijssen. J Neurol 2013
38
32

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
69
32

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.
Robin Cloarec, Nadine Bruneau, Gabrielle Rudolf, Annick Massacrier, Manal Salmi, Marc Bataillard, Clotilde Boulay, Roberto Caraballo, Natalio Fejerman, Pierre Genton,[...]. Neurology 2012
70
32

Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion.
Pichet Termsarasab, Amy C Yang, Jennifer Reiner, Hui Mei, Stuart A Scott, Steven J Frucht. Tremor Other Hyperkinet Mov (N Y) 2014
10
80

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
60
32

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
111
32

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
117
28

PRRT2 mutations are the major cause of benign familial infantile seizures.
Julian Schubert, Roberta Paravidino, Felicitas Becker, Andrea Berger, Nerses Bebek, Amedeo Bianchi, Knut Brockmann, Giuseppe Capovilla, Bernardo Dalla Bernardina, Yukio Fukuyama,[...]. Hum Mutat 2012
68
28


PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response.
Hong-Fu Li, Wan-Jin Chen, Wang Ni, Kai-Yan Wang, Gong-Lu Liu, Ning Wang, Zhi-Qi Xiong, Jianfeng Xu, Zhi-Ying Wu. Neurology 2013
41
28

Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations.
L C S Tan, K Methawasin, E W L Teng, A R J Ng, S H Seah, W L Au, J J Liu, J N Foo, Y Zhao, E K Tan. Eur J Neurol 2014
28
28

Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot.
Li Cao, Xiao-Jun Huang, Lan Zheng, Qin Xiao, Xi-Jin Wang, Sheng-Di Chen. Parkinsonism Relat Disord 2012
46
28

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
81
28

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
43
28

PRRT2 mutations cause hemiplegic migraine.
Florence Riant, Emmanuel Roze, Cecile Barbance, Aurélie Méneret, Lucie Guyant-Maréchal, Christian Lucas, Pascal Sabouraud, Agnes Trébuchon, Christel Depienne, Elisabeth Tournier-Lasserve. Neurology 2012
79
24


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
110
24

Association between microdeletion and microduplication at 16p11.2 and autism.
Lauren A Weiss, Yiping Shen, Joshua M Korn, Dan E Arking, David T Miller, Ragnheidur Fossdal, Evald Saemundsen, Hreinn Stefansson, Manuel A R Ferreira, Todd Green,[...]. N Engl J Med 2008
24

Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.
X-R Liu, M Wu, N He, H Meng, L Wen, J-L Wang, M-P Zhang, W-B Li, X Mao, J-M Qin,[...]. Genes Brain Behav 2013
35
24

Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.
Qing Liu, Zhan Qi, Xin-Hua Wan, Jing-Yun Li, Lei Shi, Qiang Lu, Xiang-Qin Zhou, Lei Qiao, Li-Wen Wu, Xiu-Qin Liu,[...]. J Med Genet 2012
75
24

Paroxysmal dyskinesias: clinical features and classification.
M Demirkiran, J Jankovic. Ann Neurol 1995
356
24

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
34
24

Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene.
Xiao-Rong Liu, Dan Huang, Jie Wang, Yi-Fan Wang, Hui Sun, Bin Tang, Wen Li, Jin-Xing Lai, Na He, Mei Wu,[...]. Neurol Genet 2016
22
27

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
208
20

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
223
20


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
234
20

PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China.
Y P Chen, W Song, J Yang, Z-Z Zheng, R Huang, K Chen, B Zhao, X P Chen, J-M Burgunder, H-F Shang. Eur J Neurol 2014
16
31

PRRT2 mutations: exploring the phenotypical boundaries.
Tania Djémié, Sarah Weckhuysen, Philip Holmgren, Katia Hardies, Tine Van Dyck, Rik Hendrickx, An-Sofie Schoonjans, Wim Van Paesschen, Anna C Jansen, Linda De Meirleir,[...]. J Neurol Neurosurg Psychiatry 2014
26
20

Genotype-phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases.
Cheng-Yuan Mao, Chang-He Shi, Bo Song, Jun Wu, Yan Ji, Jie Qin, Yu-Sheng Li, Jing-Jing Wang, Dan-Dan Shang, Shi-Lei Sun,[...]. J Neurol Sci 2014
20
25

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
67
20

Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine.
Russell C Dale, Alice Gardiner, Jayne Antony, Henry Houlden. Dev Med Child Neurol 2012
73
20

PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling.
Ming Li, Fenghe Niu, Xilin Zhu, Xiaopan Wu, Ning Shen, Xiaozhong Peng, Ying Liu. Int J Mol Sci 2015
48
20

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
25
20

PRRT2-related phenotypes in patients with a 16p11.2 deletion.
Danique R M Vlaskamp, Petra M C Callenbach, Patrick Rump, Lucia A A Giannini, Eva H Brilstra, Trijnie Dijkhuizen, Yvonne J Vos, Anne-Marie F van der Kevie-Kersemaekers, Jeroen Knijnenburg, Nicole de Leeuw,[...]. Eur J Med Genet 2019
10
50

Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.
Li Yang, Cuiping You, Shiyan Qiu, Xiaofan Yang, Yufen Li, Feng Liu, Dongqing Zhang, Yue Niu, Liyun Xu, Na Xu,[...]. Brain Behav 2020
9
55

PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery.
Pierluigi Valente, Enrico Castroflorio, Pia Rossi, Manuela Fadda, Bruno Sterlini, Romina Ines Cervigni, Cosimo Prestigio, Silvia Giovedì, Franco Onofri, Elisa Mura,[...]. Cell Rep 2016
84
20

PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.
Floriana Fruscione, Pierluigi Valente, Bruno Sterlini, Alessandra Romei, Simona Baldassari, Manuela Fadda, Cosimo Prestigio, Giorgia Giansante, Jacopo Sartorelli, Pia Rossi,[...]. Brain 2018
60
20


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.