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



Times Cited
  Times     Co-cited
Similarity



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
50

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
72
50

KCNMA1-linked channelopathy.
Cole S Bailey, Hans J Moldenhauer, Su Mi Park, Sotirios Keros, Andrea L Meredith. J Gen Physiol 2019
49
50

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
50


Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
50

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
50

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
385
50

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
312
50

Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy
Gözde Yeşil, Ayşe Aralaşmak, Enes Akyüz, Dilara İçağasıoğlu, Türkan Uygur Şahin, Yavuz Bayram. Balkan Med J 2018
20
50

Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures.
Brahim Tabarki, Nabil AlMajhad, Amal AlHashem, Ranad Shaheen, Fowzan S Alkuraya. Hum Genet 2016
36
50

The evolving spectrum of PRRT2-associated paroxysmal diseases.
Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein. Brain 2015
149
50

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
50

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Lina Liang, Xia Li, Sébastien Moutton, Samantha A Schrier Vergano, Benjamin Cogné, Anne Saint-Martin, Anna C E Hurst, Yushuang Hu, Olaf Bodamer, Julien Thevenon,[...]. Hum Mol Genet 2019
31
50

De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay.
Zhong-Bin Zhang, Mao-Qiang Tian, Kai Gao, Yu-Wu Jiang, Ye Wu. Mov Disord 2015
37
50

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
50

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
46
50

Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia.
Dylan J Calame, Jianfeng Xiao, Mohammad Moshahid Khan, T J Hollingsworth, Yi Xue, Abigail L Person, Mark S LeDoux. Neuroscience 2020
11
50

Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia.
Neven Maksemous, Heidi G Sutherland, Robert A Smith, Larisa M Haupt, Lyn R Griffiths. Biomedicines 2020
2
50

CACNA1A-related early-onset encephalopathy with myoclonic epilepsy: A case report.
Takuya Hayashida, Yoshiaki Saito, Atsushi Ishii, Hiroyuki Yamada, Ayako Itakura, Toshinori Minato, Tetsuhiro Fukuyama, Yoshihiro Maegaki, Shinichi Hirose. Brain Dev 2018
17
25


Parental Mosaicism in "De Novo" Epileptic Encephalopathies.
Candace T Myers, Georgina Hollingsworth, Alison M Muir, Amy L Schneider, Zoe Thuesmunn, Allison Knupp, Chontelle King, Amy Lacroix, Michele G Mehaffey, Samuel F Berkovic,[...]. N Engl J Med 2018
66
25

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
Christine Barnerias, Jean-Marie Saudubray, Guy Touati, Pascale De Lonlay, Olivier Dulac, Gerard Ponsot, Cécile Marsac, Michèle Brivet, Isabelle Desguerre. Dev Med Child Neurol 2010
97
25

Paroxysmal dyskinesias.
Kailash P Bhatia. Mov Disord 2011
109
25

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Anna Duarri, Justyna Jezierska, Michiel Fokkens, Michel Meijer, Helenius J Schelhaas, Wilfred F A den Dunnen, Freerk van Dijk, Corien Verschuuren-Bemelmans, Gerard Hageman, Pieter van de Vlies,[...]. Ann Neurol 2012
92
25

Yield of comparative genomic hybridization microarray in pediatric neurology practice.
Shibalik Misra, Greg Peters, Elizabeth Barnes, Simone Ardern-Holmes, Richard Webster, Christopher Troedson, Shekeeb S Mohammad, Deepak Gill, Manoj Menezes, Sachin Gupta,[...]. Neurol Genet 2019
2
50

Paroxysmal movement disorders: An update.
A Méneret, E Roze. Rev Neurol (Paris) 2016
36
25

The expanding spectrum of movement disorders in genetic epilepsies.
Apostolos Papandreou, Federica Rachele Danti, Robert Spaull, Vincenzo Leuzzi, Amy Mctague, Manju A Kurian. Dev Med Child Neurol 2020
14
25

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
25

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
Mary Beth Stosser, Amanda S Lindy, Elizabeth Butler, Kyle Retterer, Caitlin M Piccirillo-Stosser, Gabriele Richard, Dianalee A McKnight. Genet Med 2018
82
25

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.
Connie Marras, Anthony Lang, Bart P van de Warrenburg, Carolyn M Sue, Sarah J Tabrizi, Lars Bertram, Saadet Mercimek-Mahmutoglu, Darius Ebrahimi-Fakhari, Thomas T Warner, Alexandra Durr,[...]. Mov Disord 2016
137
25

Late-onset episodic ataxia associated with SLC1A3 mutation.
Kwang-Dong Choi, Joanna C Jen, Seo Young Choi, Jin-Hong Shin, Hyang-Sook Kim, Hyo-Jung Kim, Ji-Soo Kim, Jae-Hwan Choi. J Hum Genet 2017
30
25

A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
Vincenzo Salpietro, Belen Perez-Dueñas, Kosuke Nakashima, Victoria San Antonio-Arce, Andreea Manole, Stephanie Efthymiou, Jana Vandrovcova, Conceicao Bettencourt, Niccolò E Mencacci, Christine Klein,[...]. Mov Disord 2018
25
25

Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene.
M Schesny, F Joncourt, Alexander A Tarnutzer. Cerebellum 2019
10
25

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
25

A novel locus for episodic ataxia:UBR4 the likely candidate.
Judith Conroy, Paul McGettigan, Raymond Murphy, David Webb, Sinéad M Murphy, Blathnaid McCoy, Christine Albertyn, Dara McCreary, Cara McDonagh, Orla Walsh,[...]. Eur J Hum Genet 2014
44
25

Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.
Sho T Yano, Kenneth Silver, Richard Young, Suzanne D DeBrosse, Roseànne S Ebel, Kathryn J Swoboda, Gyula Acsadi. Pediatr Neurol 2017
39
25

Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.
Marisela E Dy, Florence C F Chang, Sol De Jesus, Irina Anselm, Neil Mahant, Pamela Zeilman, Lance H Rodan, Kelly D Foote, Wen-Hann Tan, Emad Eskandar,[...]. J Child Neurol 2016
27
25

Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.
Saeed A Bohlega, Hussam Abou-Al-Shaar, Amaal AlDakheel, Huda Alajlan, Balsam S Bohlega, Brian F Meyer, Dorota Monies, Edward J Cupler, Amr M Al-Saif. Parkinsonism Relat Disord 2019
13
25

Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome.
Keisuke Ueda, Marwan Shinawi, Toni S Pearson. Neurol Genet 2021
1
100

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
25

Characterization of RhoBTB-dependent Cul3 ubiquitin ligase complexes--evidence for an autoregulatory mechanism.
Jessica Berthold, Kristína Schenková, Sonia Ramos, Yoshie Miura, Manabu Furukawa, Pontus Aspenström, Francisco Rivero. Exp Cell Res 2008
57
25

Novel TBC1D24 Mutations in a Case of Nonconvulsive Status Epilepticus.
Jingjing Li, Ruihong Liu, Huiyu Feng, Jian Zhang, Dilong Wang, Yiming Wang, Jinsheng Zeng, Yuhua Fan. Front Neurol 2018
5
25

Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.
Laura Zima, Sophia Ceulemans, Gail Reiner, Serena Galosi, Dillon Chen, Michelle Sahagian, Richard H Haas, Keith Hyland, Jennifer Friedman. Ann Clin Transl Neurol 2018
7
25

Microarray analysis in children with developmental disorder or epilepsy.
Herbert Ezugha, Carol E Anderson, Harold G Marks, Divya Khurana, Agustín Legido, Ignacio Valencia. Pediatr Neurol 2010
19
25

Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.
Kelsey Paulhus, Lauren Ammerman, Edward Glasscock. Int J Mol Sci 2020
28
25

Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.
Kristin K Deeb, Jirair K Bedoyan, Raymond Wang, Leighann Sremba, Molly C Schroeder, George J Grahame, Monica Boyer, Shawn E McCandless, Douglas S Kerr, Shulin Zhang. Mol Genet Metab Rep 2014
3
33

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.
Jun Ling Wang, Xu Yang, Kun Xia, Zheng Mao Hu, Ling Weng, Xin Jin, Hong Jiang, Peng Zhang, Lu Shen, Ji Feng Guo,[...]. Brain 2010
193
25

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.
Cèlia Sintas, Oriel Carreño, Noèlia Fernàndez-Castillo, Roser Corominas, Marta Vila-Pueyo, Claudio Toma, Ester Cuenca-León, Isabel Barroeta, Carles Roig, Víctor Volpini,[...]. Sci Rep 2017
23
25


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.