A citation-based method for searching scientific literature

E Indelicato, W Nachbauer, E Karner, A Eigentler, M Wagner, I Unterberger, W Poewe, M Delazer, S Boesch. Eur J Neurol 2019
Times Cited: 18







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



Times Cited
  Times     Co-cited
Similarity


CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
Lena Damaj, Alexis Lupien-Meilleur, Anne Lortie, Émilie Riou, Luis H Ospina, Louise Gagnon, Catherine Vanasse, Elsa Rossignol. Eur J Hum Genet 2015
87
77

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
36
55

Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.
Xiao Jiang, Praveen K Raju, Nazzareno D'Avanzo, Mathieu Lachance, Julie Pepin, François Dubeau, Wendy G Mitchell, Luis E Bello-Espinosa, Tyler M Pierson, Berge A Minassian,[...]. Epilepsia 2019
24
55

Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.
Lubov Blumkin, Marina Michelson, Esther Leshinsky-Silver, Sara Kivity, Dorit Lev, Tally Lerman-Sagie. J Child Neurol 2010
34
50

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
50


Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
Xi Luo, Jill A Rosenfeld, Shinya Yamamoto, Tamar Harel, Zhongyuan Zuo, Melissa Hall, Klaas J Wierenga, Matthew T Pastore, Dennis Bartholomew, Mauricio R Delgado,[...]. PLoS Genet 2017
34
38

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
38

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
38

Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.
Sanjeev Rajakulendran, Tracey D Graves, Robyn W Labrum, Dimitrios Kotzadimitriou, Louise Eunson, Mary B Davis, Rosalyn Davies, Nicholas W Wood, Dimitri M Kullmann, Michael G Hanna,[...]. J Physiol 2010
52
38

Clinical spectrum of episodic ataxia type 2.
J Jen, G W Kim, R W Baloh. Neurology 2004
177
38

CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy.
K Vahedi, C Denier, A Ducros, V Bousson, C Levy, H Chabriat, M Haguenau, E Tournier-Lasserve, M G Bousser. Neurology 2000
106
33

Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood.
P Bertholon, S Chabrier, F Riant, E Tournier-Lasserve, R Peyron. J Neurol Neurosurg Psychiatry 2009
22
33

Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit.
K Jun, E S Piedras-Rentería, S M Smith, D B Wheeler, S B Lee, T G Lee, H Chin, M E Adams, R H Scheller, R W Tsien,[...]. Proc Natl Acad Sci U S A 1999
352
33

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
48
33

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
20
33

Delayed postnatal loss of P/Q-type calcium channels recapitulates the absence epilepsy, dyskinesia, and ataxia phenotypes of genomic Cacna1a mutations.
Melanie D Mark, Takashi Maejima, Denise Kuckelsberg, Jong W Yoo, Robert A Hyde, Viral Shah, Davina Gutierrez, Rosa L Moreno, Wolfgang Kruse, Jeffrey L Noebels,[...]. J Neurosci 2011
60
33

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
43
33

Cognitive impairment in children with CACNA1A mutations.
Veronique Humbertclaude, Florence Riant, Benjamin Krams, Valerie Zimmermann, Nicolas Nagot, Daniel Annequin, Bernard Echenne, Elisabeth Tournier-Lasserve, Agathe Roubertie. Dev Med Child Neurol 2020
13
46

Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family.
Agathe Roubertie, Bernard Echenne, Julie Leydet, Sophie Soete, Benjamin Krams, Francois Rivier, Florence Riant, Elisabeth Tournier-Lasserve. J Neurol 2008
49
27

Stepwise developmental regression associated with novel CACNA1A mutation.
Andrea A Guerin, Annette Feigenbaum, Elizabeth J Donner, Grace Yoon. Pediatr Neurol 2008
28
27

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
15
33

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
Lorena Travaglini, Marta Nardella, Emanuele Bellacchio, Adele D'Amico, Alessandro Capuano, Roberto Frusciante, Matteo Di Capua, Raffaella Cusmai, Sabina Barresi, Silvia Morlino,[...]. Eur J Paediatr Neurol 2017
27
27

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.
Romina Romaniello, Claudio Zucca, Alessandra Tonelli, Sara Bonato, Cinzia Baschirotto, Nicoletta Zanotta, Roberta Epifanio, Andrea Righini, Nereo Bresolin, Maria T Bassi,[...]. J Neurol Neurosurg Psychiatry 2010
34
27

CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid.
Kylie A Scoggan, Joseph H Friedman, Dennis E Bulman. Can J Neurol Sci 2006
21
27

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
Alessandra Tonelli, Maria Grazia D'Angelo, Roberto Salati, Laura Villa, Chiara Germinasi, Tiziano Frattini, Giovanni Meola, Anna Carla Turconi, Nereo Bresolin, Maria Teresa Bassi. J Neurol Sci 2006
34
27

Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.
Sanjeev Rajakulendran, Diego Kaski, Michael G Hanna. Nat Rev Neurol 2012
86
27

The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.
A Ducros, C Denier, A Joutel, M Cecillon, C Lescoat, K Vahedi, F Darcel, E Vicaut, M G Bousser, E Tournier-Lasserve. N Engl J Med 2001
359
27

Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.
Paola Imbrici, Stephen L Jaffe, Louise H Eunson, Nicholas P Davies, Colin Herd, Robert Robertson, Dimitri M Kullmann, Michael G Hanna. Brain 2004
148
27

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.
A Jouvenceau, L H Eunson, A Spauschus, V Ramesh, S M Zuberi, D M Kullmann, M G Hanna. Lancet 2001
260
27

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.
Lubov Blumkin, Esther Leshinsky-Silver, Marina Michelson, Ayelet Zerem, Sara Kivity, Dorit Lev, Tally Lerman-Sagie. Eur J Paediatr Neurol 2015
23
22

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
198
22


Phenotypic variability of episodic ataxia type 2 mutations: a family study.
Julien Jung, Hervé Testard, Elisabeth Tournier-Lasserve, Florence Riant, Anne-Evelyne Vallet, Stéphane Berroir, Emmanuel Broussolle. Eur Neurol 2010
16
25

Calcium Channels, Synaptic Plasticity, and Neuropsychiatric Disease.
Evanthia Nanou, William A Catterall. Neuron 2018
130
22

Ablation of Ca(V)2.1 voltage-gated Ca²⁺ channels in mouse forebrain generates multiple cognitive impairments.
Robert Theodor Mallmann, Claudio Elgueta, Faten Sleman, Jan Castonguay, Thomas Wilmes, Arn van den Maagdenberg, Norbert Klugbauer. PLoS One 2013
21
22

Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity.
C F Fletcher, A Tottene, V A Lennon, S M Wilson, S J Dubel, R Paylor, D A Hosford, L Tessarollo, M W McEnery, D Pietrobon,[...]. FASEB J 2001
135
22

Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine.
E E Kors, G M Terwindt, F L Vermeulen, R B Fitzsimons, P E Jardine, P Heywood, S Love, A M van den Maagdenberg, J Haan, R R Frants,[...]. Ann Neurol 2001
232
22

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
30
22

A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline.
T Freilinger, N Ackl, A Ebert, C Schmidt, B Rautenstrauss, M Dichgans, A Danek. J Neurol Sci 2011
19
22

CaV2.1 channelopathies.
Daniela Pietrobon. Pflugers Arch 2010
134
22

De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.
F Riant, A Ducros, C Ploton, C Barbance, C Depienne, E Tournier-Lasserve. Neurology 2010
80
22

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.
Ester Cuenca-León, Isabel Banchs, Selma A Serra, Pilar Latorre, Noèlia Fernàndez-Castillo, Roser Corominas, Miguel A Valverde, Víctor Volpini, José M Fernández-Fernández, Alfons Macaya,[...]. J Neurol Sci 2009
24
22

A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.
Maria Isabel Bahamonde, Selma Angèlica Serra, Oliver Drechsel, Rubayte Rahman, Anna Marcé-Grau, Marta Prieto, Stephan Ossowski, Alfons Macaya, José M Fernández-Fernández. PLoS One 2015
16
25

De novo mutations in epileptic encephalopathies.
Andrew S Allen, Samuel F Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E Eichler, Michael P Epstein, Tracy Glauser, David B Goldstein, Yujun Han,[...]. Nature 2013
920
22

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
Chihiro Ohba, Hitoshi Osaka, Mizue Iai, Sumimasa Yamashita, Yume Suzuki, Noriko Aida, Nobuyuki Shimozawa, Ayumi Takamura, Hiroshi Doi, Atsuko Tomita-Katsumoto,[...]. Neurogenetics 2013
79
22

Gamma-band deficiency and abnormal thalamocortical activity in P/Q-type channel mutant mice.
Rodolfo R Llinás, Soonwook Choi, Francisco J Urbano, Hee-Sup Shin. Proc Natl Acad Sci U S A 2007
73
22

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
12
33

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
22

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
Nuria García Segarra, Ivan Gautschi, Laureane Mittaz-Crettol, Christine Kallay Zetchi, Lama Al-Qusairi, Miguel Xavier Van Bemmelen, Philippe Maeder, Luisa Bonafé, Laurent Schild, Eliane Roulet-Perez. J Neurol Sci 2014
24
22


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.