A citation-based method for searching scientific literature

Neven Maksemous, Bishakha Roy, Robert A Smith, Lyn R Griffiths. Mol Genet Genomic Med 2016
Times Cited: 21







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



Times Cited
  Times     Co-cited
Similarity


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
47

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
38

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
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
50
33

Clinical spectrum of episodic ataxia type 2.
J Jen, G W Kim, R W Baloh. Neurology 2004
179
33

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
28

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
363
23

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
23

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
23

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
19

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
19

MutationTaster evaluates disease-causing potential of sequence alterations.
Jana Marie Schwarz, Christian Rödelsperger, Markus Schuelke, Dominik Seelow. Nat Methods 2010
19

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
146
19

Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.
E Mantuano, L Veneziano, M Spadaro, P Giunti, S Guida, M G Leggio, L Verriello, N Wood, C Jodice, M Frontali. J Med Genet 2004
34
19

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
19

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
19

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
37
19

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
19

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
19
21

Case report of novel CACNA1A gene mutation causing episodic ataxia type 2.
David Alan Isaacs, Michael J Bradshaw, Kelly Brown, Peter Hedera. SAGE Open Med Case Rep 2017
6
66

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
233
19

A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression.
Arn M J M van den Maagdenberg, Daniela Pietrobon, Tommaso Pizzorusso, Simon Kaja, Ludo A M Broos, Tiziana Cesetti, Rob C G van de Ven, Angelita Tottene, Jos van der Kaa, Jaap J Plomp,[...]. Neuron 2004
460
19

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
14

Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.
Sanjeev Rajakulendran, Diego Kaski, Michael G Hanna. Nat Rev Neurol 2012
88
14

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
35
14

Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1.
Katharina Eikermann-Haerter, Ergin Dileköz, Chiho Kudo, Sean I Savitz, Christian Waeber, Michael J Baum, Michel D Ferrari, Arn M J M van den Maagdenberg, Michael A Moskowitz, Cenk Ayata. J Clin Invest 2009
189
14

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
14

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.
R W Labrum, S Rajakulendran, T D Graves, L H Eunson, R Bevan, M G Sweeney, S R Hammans, N Tubridy, T Britton, L J Carr,[...]. J Med Genet 2009
38
14

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
54
14

Functional implications of a novel EA2 mutation in the P/Q-type calcium channel.
Sian D Spacey, Michael E Hildebrand, Luke A Materek, Thomas D Bird, Terrance P Snutch. Ann Neurol 2004
55
14

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.
Oriel Carreño, Roser Corominas, Selma Angèlica Serra, Cèlia Sintas, Noèlia Fernández-Castillo, Marta Vila-Pueyo, Claudio Toma, Gemma G Gené, Roser Pons, Miguel Llaneza,[...]. Mol Genet Genomic Med 2013
22
14

A destructive interaction mechanism accounts for dominant-negative effects of misfolded mutants of voltage-gated calcium channels.
Alexandre Mezghrani, Arnaud Monteil, Katrin Watschinger, Martina J Sinnegger-Brauns, Christian Barrère, Emmanuel Bourinet, Joël Nargeot, Jörg Striessnig, Philippe Lory. J Neurosci 2008
58
14

Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.
A M J M van den Maagdenberg, E E Kors, E R Brunt, W van Paesschen, J Pascual, D Ravine, S Keeling, K R J Vanmolkot, F L M G Vermeulen, G M Terwindt,[...]. J Neurol 2002
24
14

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
581
14

Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2.
Jijun Wan, Hafsa Mamsa, Janine L Johnston, Elizabeth L Spriggs, Harvey S Singer, David S Zee, Alhamza R Al-Bayati, Robert W Baloh, Joanna C Jen. Front Neurol 2011
28
14

N terminus is key to the dominant negative suppression of Ca(V)2 calcium channels: implications for episodic ataxia type 2.
Karen M Page, Fay Heblich, Wojciech Margas, Wendy S Pratt, Manuela Nieto-Rostro, Kanchan Chaggar, Kieran Sandhu, Anthony Davies, Annette C Dolphin. J Biol Chem 2010
41
14


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
50
14

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.
Martin Dichgans, Tobias Freilinger, Gertrud Eckstein, Elena Babini, Bettina Lorenz-Depiereux, Saskia Biskup, Michel D Ferrari, Jürgen Herzog, Arn M J M van den Maagdenberg, Michael Pusch,[...]. Lancet 2005
531
14

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
14

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
14

Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation.
D I Zafeiriou, F Lehmann-Horn, E Vargiami, E Teflioudi, A Ververi, K Jurkat-Rott. Eur J Paediatr Neurol 2009
11
27

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
14

A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia.
J Jen, Q Yue, S F Nelson, H Yu, M Litt, J Nutt, R W Baloh. Neurology 1999
95
14


A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.
Se-Kyung Oh, Jeong-In Baek, Karl M Weigand, Hanka Venselaar, Herman G P Swarts, Seong-Hyun Park, Muhammad Hashim Raza, Da Jung Jung, Soo-Young Choi, Sang-Heun Lee,[...]. Eur J Hum Genet 2015
15
20

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.
Maurizio De Fusco, Roberto Marconi, Laura Silvestri, Luigia Atorino, Luca Rampoldi, Letterio Morgante, Andrea Ballabio, Paolo Aridon, Giorgio Casari. Nat Genet 2003
637
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
101
14

Hereditary paroxysmal ataxia: response to acetazolamide.
R C Griggs, R T Moxley, R A Lafrance, J McQuillen. Neurology 1978
159
14

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
91
14


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.