A citation-based method for searching scientific literature

Stefan Kipfer, Michael Strupp. Mov Disord Clin Pract 2014
Times Cited: 10







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



Times Cited
  Times     Co-cited
Similarity


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
200
70

Clinical spectrum of episodic ataxia type 2.
J Jen, G W Kim, R W Baloh. Neurology 2004
179
60

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
50
40

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
Karit Reinson, Eve Õiglane-Shlik, Inga Talvik, Ulvi Vaher, Anne Õunapuu, Margus Ennok, Rita Teek, Sander Pajusalu, Ülle Murumets, Tiiu Tomberg,[...]. Am J Med Genet A 2016
46
40

Episodic Ataxias: Clinical and Genetic Features.
Kwang-Dong Choi, Jae-Hwan Choi. J Mov Disord 2016
42
40

Episodic ataxias.
Joanna C Jen, Jijun Wan. Handb Clin Neurol 2018
21
40

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
55
40

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
40

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
112
40

The neurological update: therapies for cerebellar ataxias in 2020.
J Gandini, Mario Manto, T Bremova-Ertl, K Feil, M Strupp. J Neurol 2020
11
40

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.
Chloé Angelini, Julien Van Gils, Antoine Bigourdan, Pierre-Simon Jouk, Didier Lacombe, Patrice Menegon, Sébastien Moutton, Florence Riant, Guilhem Sole, Elisabeth Tournier-Lasserve,[...]. Eur J Med Genet 2019
20
40

Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation.
Luca Pradotto, Monica Mencarelli, Matteo Bigoni, Alessandra Milesi, Anna Di Blasio, Alessandro Mauro. J Neurol Sci 2016
12
30

A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.
Katrin Bürk, Frank J Kaiser, Stephanie Tennstedt, Ludger Schöls, Friedmar R Kreuz, Thomas Wieland, Tim M Strom, Thomas Büttner, Ronja Hollstein, Diana Braunholz,[...]. Eur J Med Genet 2014
14
30

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
30

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
112
30

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
30

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
30

Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene.
M Schesny, F Joncourt, Alexander A Tarnutzer. Cerebellum 2019
9
33

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.
L H Eunson, R Rea, S M Zuberi, S Youroukos, C P Panayiotopoulos, R Liguori, P Avoni, R C McWilliam, J B Stephenson, M G Hanna,[...]. Ann Neurol 2000
169
30

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
41
30

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
C Jodice, E Mantuano, L Veneziano, F Trettel, G Sabbadini, L Calandriello, A Francia, M Spadaro, F Pierelli, F Salvi,[...]. Hum Mol Genet 1997
212
30

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
30

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
30

A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.
Karine Choquet, Roberta La Piana, Bernard Brais. Neurogenetics 2015
25
30

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
30

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
30

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
30

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
30

Episodic ataxia type 2.
Michael Strupp, Andreas Zwergal, Thomas Brandt. Neurotherapeutics 2007
96
20


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
34
20

Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2.
Andrea Petrovicova, Miroslav Brozman, Egon Kurca, Tibor Gobo, Jana Dluha, Klaudia Kalmarova, Vladimir Nosal, Martina Hikkelova, Adriana Krajciova, Tatiana Burjanivova,[...]. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2017
5
40

Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.
Neven Maksemous, Bishakha Roy, Robert A Smith, Lyn R Griffiths. Mol Genet Genomic Med 2016
21
20

Eye movement disorders are an early manifestation of CACNA1A mutations in children.
Esther M Tantsis, Deepak Gill, Lyn Griffiths, Sachin Gupta, John Lawson, Neven Maksemous, Robert Ouvrier, Florence Riant, Robert Smith, Christopher Troedson,[...]. Dev Med Child Neurol 2016
38
20

Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2.
R A Maselli, J Wan, V Dunne, M Graves, R W Baloh, R L Wollmann, J Jen. Neurology 2003
30
20

Paroxysmal dyskinesias: clinical features and classification.
M Demirkiran, J Jankovic. Ann Neurol 1995
350
20

PRRT2 mutations and paroxysmal disorders.
A Méneret, C Gaudebout, F Riant, M Vidailhet, C Depienne, E Roze. Eur J Neurol 2013
69
20

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
93
20

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
105
20

Duplications of SLC1A3: Associated with ADHD and autism.
Claudia J M van Amen-Hellebrekers, Sandra Jansen, Rolph Pfundt, Janneke H Schuurs-Hoeijmakers, David A Koolen, Carlo L Marcelis, Nicole de Leeuw, Bert B A de Vries. Eur J Med Genet 2016
12
20


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
27
20



Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.
Steven J Shook, Hafsa Mamsa, Joanna C Jen, Robert W Baloh, Lan Zhou. Muscle Nerve 2008
25
20


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
26
20

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
28

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
301
20

ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.
Jennifer R Friedman, Aurélie Méneret, Dong-Hui Chen, Oriane Trouillard, Marie Vidailhet, Wendy H Raskind, Emmanuel Roze. Mov Disord 2016
34
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.