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
Times Cited: 43
Times Cited: 43
Times Cited
Times Co-cited
Similarity
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
Pierluigi Valente, Enrico Castroflorio, Pia Rossi, Manuela Fadda, Bruno Sterlini, Romina Ines Cervigni, Cosimo Prestigio, Silvia Giovedì, Franco Onofri, Elisa Mura,[...]. Cell Rep 2016
60
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
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
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
Pia Rossi, Bruno Sterlini, Enrico Castroflorio, Antonella Marte, Franco Onofri, Flavia Valtorta, Luca Maragliano, Anna Corradi, Fabio Benfenati. J Biol Chem 2016
46
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
41
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
41
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
39
PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function.
Flavia Valtorta, Fabio Benfenati, Federico Zara, Jacopo Meldolesi. Trends Neurosci 2016
Flavia Valtorta, Fabio Benfenati, Federico Zara, Jacopo Meldolesi. Trends Neurosci 2016
39
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
Floriana Fruscione, Pierluigi Valente, Bruno Sterlini, Alessandra Romei, Simona Baldassari, Manuela Fadda, Cosimo Prestigio, Giorgia Giansante, Jacopo Sartorelli, Pia Rossi,[...]. Brain 2018
37
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
Caterina Michetti, Enrico Castroflorio, Ivan Marchionni, Nicola Forte, Bruno Sterlini, Francesca Binda, Floriana Fruscione, Pietro Baldelli, Flavia Valtorta, Federico Zara,[...]. Neurobiol Dis 2017
34
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
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
35
PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by influencing synaptic function in the primary motor cortex of rats.
Juan Mo, Bantong Wang, Xilin Zhu, Xiaopan Wu, Ying Liu. Neurobiol Dis 2019
Juan Mo, Bantong Wang, Xilin Zhu, Xiaopan Wu, Ying Liu. Neurobiol Dis 2019
66
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
20
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
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
Ming Li, Fenghe Niu, Xilin Zhu, Xiaopan Wu, Ning Shen, Xiaozhong Peng, Ying Liu. Int J Mol Sci 2015
20
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
18
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
Jochen Schwenk, Nadine Harmel, Aline Brechet, Gerd Zolles, Henrike Berkefeld, Catrin Swantje Müller, Wolfgang Bildl, David Baehrens, Björn Hüber, Akos Kulik,[...]. Neuron 2012
18
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
18
Constitutive Inactivation of the PRRT2 Gene Alters Short-Term Synaptic Plasticity and Promotes Network Hyperexcitability in Hippocampal Neurons.
Pierluigi Valente, Alessandra Romei, Manuela Fadda, Bruno Sterlini, Davide Lonardoni, Nicola Forte, Floriana Fruscione, Enrico Castroflorio, Caterina Michetti, Giorgia Giansante,[...]. Cereb Cortex 2019
Pierluigi Valente, Alessandra Romei, Manuela Fadda, Bruno Sterlini, Davide Lonardoni, Nicola Forte, Floriana Fruscione, Enrico Castroflorio, Caterina Michetti, Giorgia Giansante,[...]. Cereb Cortex 2019
34
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
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16
PRRT2, a network stability gene.
Caterina Michetti, Anna Corradi, Fabio Benfenati. Oncotarget 2017
Caterina Michetti, Anna Corradi, Fabio Benfenati. Oncotarget 2017
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Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability.
Luis Rohena, Julie Neidich, Megan Truitt Cho, Kelly Df Gonzalez, Sha Tang, Orrin Devinsky, Wendy K Chung. Rare Dis 2013
Luis Rohena, Julie Neidich, Megan Truitt Cho, Kelly Df Gonzalez, Sha Tang, Orrin Devinsky, Wendy K Chung. Rare Dis 2013
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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Vincenzo Salpietro, Nancy T Malintan, Isabel Llano-Rivas, Christine G Spaeth, Stephanie Efthymiou, Pasquale Striano, Jana Vandrovcova, Maria C Cutrupi, Roberto Chimenz, Emanuele David,[...]. Am J Hum Genet 2019
Vincenzo Salpietro, Nancy T Malintan, Isabel Llano-Rivas, Christine G Spaeth, Stephanie Efthymiou, Pasquale Striano, Jana Vandrovcova, Maria C Cutrupi, Roberto Chimenz, Emanuele David,[...]. Am J Hum Genet 2019
16
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
Sarah E Heron, Leanne M Dibbens. J Med Genet 2013
Sarah E Heron, Leanne M Dibbens. J Med Genet 2013
13
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
13
The dispanins: a novel gene family of ancient origin that contains 14 human members.
Markus Sällman Almén, Nathalie Bringeland, Robert Fredriksson, Helgi B Schiöth. PLoS One 2012
Markus Sällman Almén, Nathalie Bringeland, Robert Fredriksson, Helgi B Schiöth. PLoS One 2012
13
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
Carla Marini, Valerio Conti, Davide Mei, Domenica Battaglia, Donatella Lettori, Emma Losito, Grazia Bruccini, Gaetano Tortorella, Renzo Guerrini. Neurology 2012
13
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
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13
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
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
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A conditional knockout resource for the genome-wide study of mouse gene function.
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A human protein-protein interaction network: a resource for annotating the proteome.
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Regional diversity and developmental dynamics of the AMPA-receptor proteome in the mammalian brain.
Jochen Schwenk, David Baehrens, Alexander Haupt, Wolfgang Bildl, Sami Boudkkazi, Jochen Roeper, Bernd Fakler, Uwe Schulte. Neuron 2014
Jochen Schwenk, David Baehrens, Alexander Haupt, Wolfgang Bildl, Sami Boudkkazi, Jochen Roeper, Bernd Fakler, Uwe Schulte. Neuron 2014
11
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Hannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoit, Mauro Budetta, Almuth Caliebe,[...]. Neurology 2016
Hannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoit, Mauro Budetta, Almuth Caliebe,[...]. Neurology 2016
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Synaptotagmin I: a major Ca2+ sensor for transmitter release at a central synapse.
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Neurotransmitter release: the last millisecond in the life of a synaptic vesicle.
Thomas C Südhof. Neuron 2013
Thomas C Südhof. Neuron 2013
11
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
11
Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.
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SynDIG1: an activity-regulated, AMPA- receptor-interacting transmembrane protein that regulates excitatory synapse development.
Evgenia Kalashnikova, Ramón A Lorca, Inderpreet Kaur, Gustavo A Barisone, Bonnie Li, Tatsuto Ishimaru, James S Trimmer, Durga P Mohapatra, Elva Díaz. Neuron 2010
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Differences in AMPA and kainate receptor interactomes facilitate identification of AMPA receptor auxiliary subunit GSG1L.
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De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
Hirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi, Keisuke Hamada, Hitoshi Osaka, Jun Tohyama, Katsuhisa Uruno, Satoko Kumada, Kiyomi Nishiyama, Akira Nishimura,[...]. Nat Genet 2008
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11
Synaptic assembly of the brain in the absence of neurotransmitter secretion.
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Abnormal high-frequency burst firing of cerebellar neurons in rapid-onset dystonia-parkinsonism.
Rachel Fremont, D Paola Calderon, Sara Maleki, Kamran Khodakhah. J Neurosci 2014
Rachel Fremont, D Paola Calderon, Sara Maleki, Kamran Khodakhah. J Neurosci 2014
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PRRT2 missense mutations cluster near C-terminus and frequently lead to protein mislocalization.
Meng-Han Tsai, Fang-Shin Nian, Mei-Hsin Hsu, Wei-Szu Liu, Yo-Tsen Liu, Chen Liu, Po-Hsi Lin, Daw-Yang Hwang, Yao-Chung Chuang, Jin-Wu Tsai. Epilepsia 2019
Meng-Han Tsai, Fang-Shin Nian, Mei-Hsin Hsu, Wei-Szu Liu, Yo-Tsen Liu, Chen Liu, Po-Hsi Lin, Daw-Yang Hwang, Yao-Chung Chuang, Jin-Wu Tsai. Epilepsia 2019
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Synaptic or ion channel modifier? PRRT2 is a chameleon-like regulator of neuronal excitability.
Holger Lerche. Brain 2018
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Syntaxin 1B is important for mouse postnatal survival and proper synaptic function at the mouse neuromuscular junctions.
Yuan-Ju Wu, Rocio Tejero, Marife Arancillo, Gülcin Vardar, Tatiana Korotkova, Michael Kintscher, Dietmar Schmitz, Alexey Ponomarenko, Lucia Tabares, Christian Rosenmund. J Neurophysiol 2015
Yuan-Ju Wu, Rocio Tejero, Marife Arancillo, Gülcin Vardar, Tatiana Korotkova, Michael Kintscher, Dietmar Schmitz, Alexey Ponomarenko, Lucia Tabares, Christian Rosenmund. J Neurophysiol 2015
16
Syntaxin 1B, but not syntaxin 1A, is necessary for the regulation of synaptic vesicle exocytosis and of the readily releasable pool at central synapses.
Tatsuya Mishima, Tomonori Fujiwara, Masumi Sanada, Takefumi Kofuji, Masami Kanai-Azuma, Kimio Akagawa. PLoS One 2014
Tatsuya Mishima, Tomonori Fujiwara, Masumi Sanada, Takefumi Kofuji, Masami Kanai-Azuma, Kimio Akagawa. PLoS One 2014
9
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
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Architecture of the synaptotagmin-SNARE machinery for neuronal exocytosis.
Qiangjun Zhou, Ying Lai, Taulant Bacaj, Minglei Zhao, Artem Y Lyubimov, Monarin Uervirojnangkoorn, Oliver B Zeldin, Aaron S Brewster, Nicholas K Sauter, Aina E Cohen,[...]. Nature 2015
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Phosphatidylinositol 4,5-bisphosphate clusters act as molecular beacons for vesicle recruitment.
Alf Honigmann, Geert van den Bogaart, Emilio Iraheta, H Jelger Risselada, Dragomir Milovanovic, Veronika Mueller, Stefan Müllar, Ulf Diederichsen, Dirk Fasshauer, Helmut Grubmüller,[...]. Nat Struct Mol Biol 2013
Alf Honigmann, Geert van den Bogaart, Emilio Iraheta, H Jelger Risselada, Dragomir Milovanovic, Veronika Mueller, Stefan Müllar, Ulf Diederichsen, Dirk Fasshauer, Helmut Grubmüller,[...]. Nat Struct Mol Biol 2013
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SNAREpins: minimal machinery for membrane fusion.
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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.