A citation-based method for searching scientific literature

Judith Conroy, Paul McGettigan, Raymond Murphy, David Webb, Sinéad M Murphy, Blathnaid McCoy, Christine Albertyn, Dara McCreary, Cara McDonagh, Orla Walsh, Sallyann Lynch, Sean Ennis. Eur J Hum Genet 2014
Times Cited: 41







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



Times Cited
  Times     Co-cited
Similarity


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
270
46

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
224
43

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
R A Ophoff, G M Terwindt, M N Vergouwe, R van Eijk, P J Oefner, S M Hoffman, J E Lamerdin, H W Mohrenweiser, D E Bulman, M Ferrari,[...]. Cell 1996
36

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
O Zhuchenko, J Bailey, P Bonnen, T Ashizawa, D W Stockton, C Amos, W B Dobyns, S H Subramony, H Y Zoghbi, C C Lee. Nat Genet 1997
36

A new episodic ataxia syndrome with linkage to chromosome 19q13.
Kevin A Kerber, Joanna C Jen, Hane Lee, Stanley F Nelson, Robert W Baloh. Arch Neurol 2007
35
42

Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
Boukje de Vries, Hafsa Mamsa, Anine H Stam, Jijun Wan, Stef L M Bakker, Kaate R J Vanmolkot, Joost Haan, Gisela M Terwindt, Elles M J Boon, Bruce D Howard,[...]. Arch Neurol 2009
82
36

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
199
36

Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias.
K F Damji, R R Allingham, S C Pollock, K Small, K E Lewis, J M Stajich, L H Yamaoka, J M Vance, M A Pericak-Vance. Arch Neurol 1996
60
34

Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
Tracey D Graves, Yoon-Hee Cha, Angelika F Hahn, Richard Barohn, Mohammed K Salajegheh, Robert C Griggs, Brian N Bundy, Joanna C Jen, Robert W Baloh, Michael G Hanna. Brain 2014
53
31

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
D L Browne, S T Gancher, J G Nutt, E R Brunt, E A Smith, P Kramer, M Litt. Nat Genet 1994
577
29

An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus.
J L Steckley, G C Ebers, M Z Cader, R S McLachlan. Neurology 2001
48
26

A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.
Karine Choquet, Roberta La Piana, Bernard Brais. Neurogenetics 2015
23
47


A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia.
M Z Cader, J L Steckley, D A Dyment, R S McLachlan, G C Ebers. Neurology 2005
35
28

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
110
24

A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.
M Strupp, R Kalla, J Claassen, C Adrion, U Mansmann, T Klopstock, T Freilinger, H Neugebauer, R Spiegel, M Dichgans,[...]. Neurology 2011
111
21

Clinical spectrum of episodic ataxia type 2.
J Jen, G W Kim, R W Baloh. Neurology 2004
178
21

Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.
Matthis Synofzik, Julia Schicks, Tobias Lindig, Saskia Biskup, Thorsten Schmidt, Jochen Hansel, Frank Lehmann-Horn, Ludger Schöls. J Med Genet 2011
38
23

Episodic Ataxias: Clinical and Genetic Features.
Kwang-Dong Choi, Jae-Hwan Choi. J Mov Disord 2016
38
23

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.
N Schwarz, A Hahn, T Bast, S Müller, H Löffler, S Maljevic, E Gaily, I Prehl, S Biskup, T Joensuu,[...]. J Neurol 2016
51
19

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
Elide Mantuano, Silvia Romano, Liana Veneziano, Cinzia Gellera, Barbara Castellotti, Sara Caimi, Daniela Testa, Margherita Estienne, Giovanna Zorzi, Marianna Bugiani,[...]. J Neurol Sci 2010
49
19

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
26
30

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
33
21

A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene.
J A Coebergh, D E Fransen van de Putte, I N Snoeck, C Ruivenkamp, A van Haeringen, L M Smit. Eur J Paediatr Neurol 2014
32
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
54
17


Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Mark A Corbett, Susannah T Bellows, Melody Li, Renée Carroll, Silvana Micallef, Gemma L Carvill, Candace T Myers, Katherine B Howell, Snezana Maljevic, Holger Lerche,[...]. Neurology 2016
41
17

FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.
Julie Piarroux, Florence Riant, Véronique Humbertclaude, Ganaelle Remerand, Jessica Hadjadj, Franck Rejou, Christine Coubes, Lucile Pinson, Pierre Meyer, Agathe Roubertie. Ann Clin Transl Neurol 2020
13
53

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
Lijia Huang, Jodi Warman Chardon, Melissa T Carter, Kathie L Friend, Tracy E Dudding, Jeremy Schwartzentruber, Ruobing Zou, Peter W Schofield, Stuart Douglas, Dennis E Bulman,[...]. Orphanet J Rare Dis 2012
86
14

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
Joyce van de Leemput, Jayanth Chandran, Melanie A Knight, Lynne A Holtzclaw, Sonja Scholz, Mark R Cookson, Henry Houlden, Katrina Gwinn-Hardy, Hon-Chung Fung, Xian Lin,[...]. PLoS Genet 2007
193
14

Paroxysmal dyskinesias: clinical features and classification.
M Demirkiran, J Jankovic. Ann Neurol 1995
349
14

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
198
14

Exome sequencing in undiagnosed inherited and sporadic ataxias.
Angela Pyle, Tania Smertenko, David Bargiela, Helen Griffin, Jennifer Duff, Marie Appleton, Konstantinos Douroudis, Gerald Pfeffer, Mauro Santibanez-Koref, Gail Eglon,[...]. Brain 2015
87
14

New insights into the pathogenesis and therapeutics of episodic ataxia type 1.
Maria Cristina D'Adamo, Sonia Hasan, Luca Guglielmi, Ilenio Servettini, Marta Cenciarini, Luigi Catacuzzeno, Fabio Franciolini. Front Cell Neurosci 2015
39
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
101
14

Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.
Wolfgang Nachbauer, Michael Nocker, Elfriede Karner, Iva Stankovic, Iris Unterberger, Andreas Eigentler, Rainer Schneider, Werner Poewe, Margarete Delazer, Sylvia Boesch. J Neurol 2014
33
18

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
297
14

The evolving spectrum of PRRT2-associated paroxysmal diseases.
Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein. Brain 2015
128
14

Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.
P Imbrici, L H Eunson, T D Graves, K P Bhatia, N H Wadia, D M Kullmann, M G Hanna. Neurology 2005
36
16

A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis.
Kyota Aoyagi, Elsa Rossignol, Fadi F Hamdan, Ben Mulcahy, Lin Xie, Shinya Nagamatsu, Guy A Rouleau, Mei Zhen, Jacques L Michaud. Hum Mutat 2015
31
19

Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine.
M Strupp, R Kalla, M Dichgans, T Freilinger, S Glasauer, T Brandt. Neurology 2004
145
14

Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
J Jen, J Wan, M Graves, H Yu, A F Mock, C J Coulin, G Kim, Q Yue, D M Papazian, R W Baloh. Neurology 2001
99
14

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.
C Denier, A Ducros, K Vahedi, A Joutel, P Thierry, A Ritz, G Castelnovo, T Deonna, P Gérard, J L Devoize,[...]. Neurology 1999
145
14

Hereditary myokymia and periodic ataxia.
D H VanDyke, R C Griggs, M J Murphy, M N Goldstein. J Neurol Sci 1975
107
14

Genetic Variants Associated with Episodic Ataxia in Korea.
Kwang-Dong Choi, Ji-Soo Kim, Hyo-Jung Kim, Ileok Jung, Seong-Hae Jeong, Seung-Han Lee, Dong Uk Kim, Sang-Ho Kim, Seo Young Choi, Jin-Hong Shin,[...]. Sci Rep 2017
31
19

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.
T D Graves, S Rajakulendran, S M Zuberi, H R Morris, S Schorge, M G Hanna, D M Kullmann. Neurology 2010
29
20

Clinical and genetic spectrum of SCN2A-associated episodic ataxia.
N Schwarz, T Bast, E Gaily, G Golla, K M Gorman, L R Griffiths, A Hahn, J Hukin, M King, C Korff,[...]. Eur J Paediatr Neurol 2019
18
33

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
86
12

Paroxysmal dyskinesias.
Kailash P Bhatia. Mov Disord 2011
105
12



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.