A citation-based method for searching scientific literature

Hsien-Yang Lee, Yong Huang, Nadine Bruneau, Patrice Roll, Elisha D O Roberson, Mark Hermann, Emily Quinn, James Maas, Robert Edwards, Tetsuo Ashizawa, Betul Baykan, Kailash Bhatia, Susan Bressman, Michiko K Bruno, Ewout R Brunt, Roberto Caraballo, Bernard Echenne, Natalio Fejerman, Steve Frucht, Christina A Gurnett, Edouard Hirsch, Henry Houlden, Joseph Jankovic, Wei-Ling Lee, David R Lynch, Shehla Mohammed, Ulrich Müller, Mark P Nespeca, David Renner, Jacques Rochette, Gabrielle Rudolf, Shinji Saiki, Bing-Wen Soong, Kathryn J Swoboda, Sam Tucker, Nicholas Wood, Michael Hanna, Anne M Bowcock, Pierre Szepetowski, Ying-Hui Fu, Louis J Ptáček. Cell Rep 2012
Times Cited: 179







List of co-cited articles
809 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
315
71

The evolving spectrum of PRRT2-associated paroxysmal diseases.
Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein. Brain 2015
152
50

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
183
45

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
43

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
45

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
254
36

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
60


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
37

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.
Carla Marini, Valerio Conti, Davide Mei, Domenica Battaglia, Donatella Lettori, Emma Losito, Grazia Bruccini, Gaetano Tortorella, Renzo Guerrini. Neurology 2012
80
32

A Novel Topology of Proline-rich Transmembrane Protein 2 (PRRT2): HINTS FOR AN INTRACELLULAR FUNCTION AT THE SYNAPSE.
Pia Rossi, Bruno Sterlini, Enrico Castroflorio, Antonella Marte, Franco Onofri, Flavia Valtorta, Luca Maragliano, Anna Corradi, Fabio Benfenati. J Biol Chem 2016
39
64

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
23

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
46

PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum.
Guo-He Tan, Yuan-Yuan Liu, Lu Wang, Kui Li, Ze-Qiang Zhang, Hong-Fu Li, Zhong-Fei Yang, Yang Li, Dan Li, Ming-Yue Wu,[...]. Cell Res 2018
48
47

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
80
27

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
32

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
69
30

PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.
Yo-Tsen Liu, Fang-Shin Nian, Wan-Ju Chou, Chin-Yin Tai, Shang-Yeong Kwan, Chien Chen, Pei-Wen Kuo, Po-Hsi Lin, Chin-Yi Chen, Chia-Wei Huang,[...]. Oncotarget 2016
41
51

The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations.
Caterina Michetti, Enrico Castroflorio, Ivan Marchionni, Nicola Forte, Bruno Sterlini, Francesca Binda, Floriana Fruscione, Pietro Baldelli, Flavia Valtorta, Federico Zara,[...]. Neurobiol Dis 2017
42
50

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
70
28

Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.
Jingyun Li, Xilin Zhu, Xin Wang, Wei Sun, Bing Feng, Te Du, Bei Sun, Fenghe Niu, Hua Wei, Xiaopan Wu,[...]. J Med Genet 2012
76
25

PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
Felicitas Becker, Julian Schubert, Pasquale Striano, Anna-Kaisa Anttonen, Elina Liukkonen, Eija Gaily, Christian Gerloff, Stephan Müller, Nicole Heußinger, Christoph Kellinghaus,[...]. J Neurol 2013
47
40

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
83
22

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
62
30

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
63
28

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.
Ingrid E Scheffer, Bronwyn E Grinton, Sarah E Heron, Sara Kivity, Zaid Afawi, Xenia Iona, Hadassa Goldberg-Stern, Maria Kinali, Ian Andrews, Renzo Guerrini,[...]. Neurology 2012
60
30

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

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
61
29

PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function.
Flavia Valtorta, Fabio Benfenati, Federico Zara, Jacopo Meldolesi. Trends Neurosci 2016
48
37

PRRT2 mutations and paroxysmal disorders.
A Méneret, C Gaudebout, F Riant, M Vidailhet, C Depienne, E Roze. Eur J Neurol 2013
72
23

Paroxysmal dyskinesias.
Kailash P Bhatia. Mov Disord 2011
110
17

A human protein-protein interaction network: a resource for annotating the proteome.
Ulrich Stelzl, Uwe Worm, Maciej Lalowski, Christian Haenig, Felix H Brembeck, Heike Goehler, Martin Stroedicke, Martina Zenkner, Anke Schoenherr, Susanne Koeppen,[...]. Cell 2005
17


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
92
17

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
36
44

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
42
38



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
106
15

High-resolution proteomics unravel architecture and molecular diversity of native AMPA receptor complexes.
Jochen Schwenk, Nadine Harmel, Aline Brechet, Gerd Zolles, Henrike Berkefeld, Catrin Swantje Müller, Wolfgang Bildl, David Baehrens, Björn Hüber, Akos Kulik,[...]. Neuron 2012
278
15

PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly.
Jeff Coleman, Ouardane Jouannot, Sathish K Ramakrishnan, Maria N Zanetti, Jing Wang, Vincenzo Salpietro, Henry Houlden, James E Rothman, Shyam S Krishnakumar. Cell Rep 2018
39
38

Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.
Axel Weber, Angelika Köhler, Andreas Hahn, Bernd Neubauer, Ulrich Müller. Neurogenetics 2013
25
56

PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia.
Li Wu, Hui-Dong Tang, Xiao-Jun Huang, Lan Zheng, Xiao-Li Liu, Tian Wang, Jing-Yi Wang, Li Cao, Sheng-Di Chen. Parkinsonism Relat Disord 2014
17
82

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
13

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
29
44

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
65

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
17

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

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
115
13

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
11


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.