A citation-based method for searching scientific literature

Lorena Travaglini, Marta Nardella, Emanuele Bellacchio, Adele D'Amico, Alessandro Capuano, Roberto Frusciante, Matteo Di Capua, Raffaella Cusmai, Sabina Barresi, Silvia Morlino, José M Fernández-Fernández, Marina Trivisano, Nicola Specchio, Massimiliano Valeriani, Federico Vigevano, Enrico Bertini, Ginevra Zanni. Eur J Paediatr Neurol 2017
Times Cited: 25







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



Times Cited
  Times     Co-cited
Similarity


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
33
52

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
44

CaV2.1 channelopathies.
Daniela Pietrobon. Pflugers Arch 2010
133
40


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

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
36

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
32

Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons.
Angelita Tottene, Tommaso Fellin, Stefano Pagnutti, Siro Luvisetto, Joerg Striessnig, Colin Fletcher, Daniela Pietrobon. Proc Natl Acad Sci U S A 2002
176
32

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
50

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
22
36

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
32
28

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
83
28

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
51
28

Structure of the voltage-gated calcium channel Ca(v)1.1 at 3.6 Å resolution.
Jianping Wu, Zhen Yan, Zhangqiang Li, Xingyang Qian, Shan Lu, Mengqiu Dong, Qiang Zhou, Nieng Yan. Nature 2016
216
24

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
23
26

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
26

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
24

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
24

Familial hemiplegic migraine type 1 mutations W1684R and V1696I alter G protein-mediated regulation of Ca(V)2.1 voltage-gated calcium channels.
Edgar Garza-López, Alejandro Sandoval, Ricardo González-Ramírez, María A Gandini, Arn Van den Maagdenberg, Michel De Waard, Ricardo Felix. Biochim Biophys Acta 2012
23
26

Early-onset cerebellar atrophy associated with mutation in the CACNA1A gene.
Swati Naik, Keith Pohl, Mohsin Malik, Ata Siddiqui, Dragana Josifova. Pediatr Neurol 2011
16
31

Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
S Guida, F Trettel, S Pagnutti, E Mantuano, A Tottene, L Veneziano, T Fellin, M Spadaro, K Stauderman, M Williams,[...]. Am J Hum Genet 2001
107
20

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
20

Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine.
M Hans, S Luvisetto, M E Williams, M Spagnolo, A Urrutia, A Tottene, P F Brust, E C Johnson, M M Harpold, K A Stauderman,[...]. J Neurosci 1999
189
20

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
52
20

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
29
20

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
197
20

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
77
20

Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.
Sanjeev Rajakulendran, Diego Kaski, Michael G Hanna. Nat Rev Neurol 2012
84
20

Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?
Francesca Camia, Livia Pisciotta, Giovanni Morana, Maria Cristina Schiaffino, Salvatore Renna, Paola Carrera, Maurizio Ferrari, Maria Giuseppina Baglietto, Edvige Veneselli, Laura Siri,[...]. Cephalalgia 2017
11
45

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
98
16

Missense CACNA1A mutation causing episodic ataxia type 2.
C Denier, A Ducros, A Durr, B Eymard, B Chassande, E Tournier-Lasserve. Arch Neurol 2001
48
16

The S218L familial hemiplegic migraine mutation promotes deinhibition of Ca(v)2.1 calcium channels during direct G-protein regulation.
Norbert Weiss, Alejandro Sandoval, Ricardo Felix, Arn Van den Maagdenberg, Michel De Waard. Pflugers Arch 2008
39
16


Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia.
Edwin Wappl, Alexandra Koschak, Michael Poteser, Martina J Sinnegger, Doris Walter, Andreas Eberhart, Klaus Groschner, Hartmut Glossmann, Richard L Kraus, Manfred Grabner,[...]. J Biol Chem 2002
74
16

Calcium channels and migraine.
Daniela Pietrobon. Biochim Biophys Acta 2013
42
16

High cortical spreading depression susceptibility and migraine-associated symptoms in Ca(v)2.1 S218L mice.
Arn M J M van den Maagdenberg, Tommaso Pizzorusso, Simon Kaja, Nicole Terpolilli, Maryna Shapovalova, Freek E Hoebeek, Curtis F Barrett, Lisa Gherardini, Rob C G van de Ven, Boyan Todorov,[...]. Ann Neurol 2010
143
16

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
38
16

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
80
16

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
267
16

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
85
16


Primary structure and functional expression from complementary DNA of a brain calcium channel.
Y Mori, T Friedrich, M S Kim, A Mikami, J Nakai, P Ruth, E Bosse, F Hofmann, V Flockerzi, T Furuichi. Nature 1991
760
16

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
219
16

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
107
16

A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.
Karine Choquet, Roberta La Piana, Bernard Brais. Neurogenetics 2015
23
17

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
41
16

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
S Barresi, M Niceta, P Alfieri, V Brankovic, G Piccini, A Bruselles, M R Barone, R Cusmai, M Tartaglia, E Bertini,[...]. Clin Genet 2017
26
16

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
48
16

The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene?
Meyeon Shin, Laurie M Douglass, Jeff M Milunsky, N Paul Rosman. J Child Neurol 2016
17
23

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
83
16


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.