J Jen, G W Kim, R W Baloh. Neurology 2004
Times Cited: 149
Times Cited: 149
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
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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
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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
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31
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
M Strupp, R Kalla, M Dichgans, T Freilinger, S Glasauer, T Brandt. Neurology 2004
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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
A Jouvenceau, L H Eunson, A Spauschus, V Ramesh, S M Zuberi, D M Kullmann, M G Hanna. Lancet 2001
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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
M Strupp, R Kalla, J Claassen, C Adrion, U Mansmann, T Klopstock, T Freilinger, H Neugebauer, R Spiegel, M Dichgans,[...]. Neurology 2011
23
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
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
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
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Hereditary paroxysmal ataxia: response to acetazolamide.
R C Griggs, R T Moxley, R A Lafrance, J McQuillen. Neurology 1978
R C Griggs, R T Moxley, R A Lafrance, J McQuillen. Neurology 1978
21
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
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18
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
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
21
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
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17
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
P Imbrici, L H Eunson, T D Graves, K P Bhatia, N H Wadia, D M Kullmann, M G Hanna. Neurology 2005
51
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
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16
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
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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
J C Jen, J Wan, T P Palos, B D Howard, R W Baloh. Neurology 2005
16
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
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Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.
R W Baloh, Q Yue, J M Furman, S F Nelson. Ann Neurol 1997
R W Baloh, Q Yue, J M Furman, S F Nelson. Ann Neurol 1997
16
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
Paola Imbrici, Stephen L Jaffe, Louise H Eunson, Nicholas P Davies, Colin Herd, Robert Robertson, Dimitri M Kullmann, Michael G Hanna. Brain 2004
15
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
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13
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.
Louise H Eunson, Tracey D Graves, Michael G Hanna. Neurology 2005
Louise H Eunson, Tracey D Graves, Michael G Hanna. Neurology 2005
59
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
Alexandre Mezghrani, Arnaud Monteil, Katrin Watschinger, Martina J Sinnegger-Brauns, Christian Barrère, Emmanuel Bourinet, Joël Nargeot, Jörg Striessnig, Philippe Lory. J Neurosci 2008
23
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
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13
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
J Jen, Q Yue, S F Nelson, H Yu, M Litt, J Nutt, R W Baloh. Neurology 1999
17
Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels.
R E Westenbroek, T Sakurai, E M Elliott, J W Hell, T V Starr, T P Snutch, W A Catterall. J Neurosci 1995
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13
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
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
54
The therapeutic mode of action of 4-aminopyridine in cerebellar ataxia.
Karina Alviña, Kamran Khodakhah. J Neurosci 2010
Karina Alviña, Kamran Khodakhah. J Neurosci 2010
13
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
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
38
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
P Bertholon, S Chabrier, F Riant, E Tournier-Lasserve, R Peyron. J Neurol Neurosurg Psychiatry 2009
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Large CACNA1A deletion in a family with episodic ataxia type 2.
Florence Riant, Reda Mourtada, Pascale Saugier-Veber, Elisabeth Tournier-Lasserve. Arch Neurol 2008
Florence Riant, Reda Mourtada, Pascale Saugier-Veber, Elisabeth Tournier-Lasserve. Arch Neurol 2008
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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
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
41
Identification of CACNA1A large deletions in four patients with episodic ataxia.
Florence Riant, Christelle Lescoat, Katayoun Vahedi, Elsa Kaphan, Annick Toutain, Thierry Soisson, Sylvette R Wiener-Vacher, Elisabeth Tournier-Lasserve. Neurogenetics 2010
Florence Riant, Christelle Lescoat, Katayoun Vahedi, Elsa Kaphan, Annick Toutain, Thierry Soisson, Sylvette R Wiener-Vacher, Elisabeth Tournier-Lasserve. Neurogenetics 2010
50
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
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
26
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
Wolfgang Nachbauer, Michael Nocker, Elfriede Karner, Iva Stankovic, Iris Unterberger, Andreas Eigentler, Rainer Schneider, Werner Poewe, Margarete Delazer, Sylvia Boesch. J Neurol 2014
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Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
Sian D Spacey, Luke A Materek, Blajez I Szczygielski, Thomas D Bird. Arch Neurol 2005
Sian D Spacey, Luke A Materek, Blajez I Szczygielski, Thomas D Bird. Arch Neurol 2005
26
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
Agathe Roubertie, Bernard Echenne, Julie Leydet, Sophie Soete, Benjamin Krams, Francois Rivier, Florence Riant, Elisabeth Tournier-Lasserve. J Neurol 2008
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Absence epilepsy in tottering mutant mice is associated with calcium channel defects.
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Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia.
Joy T Walter, Karina Alviña, Mary D Womack, Carolyn Chevez, Kamran Khodakhah. Nat Neurosci 2006
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11
Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit.
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11
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
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An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus.
J L Steckley, G C Ebers, M Z Cader, R S McLachlan. Neurology 2001
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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
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Progressive ataxia due to a missense mutation in a calcium-channel gene.
Q Yue, J C Jen, S F Nelson, R W Baloh. Am J Hum Genet 1997
Q Yue, J C Jen, S F Nelson, R W Baloh. Am J Hum Genet 1997
10
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
Kevin A Kerber, Joanna C Jen, Hane Lee, Stanley F Nelson, Robert W Baloh. Arch Neurol 2007
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Primary structure and functional expression from complementary DNA of a brain calcium channel.
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Stepwise developmental regression associated with novel CACNA1A mutation.
Andrea A Guerin, Annette Feigenbaum, Elizabeth J Donner, Grace Yoon. Pediatr Neurol 2008
Andrea A Guerin, Annette Feigenbaum, Elizabeth J Donner, Grace Yoon. Pediatr Neurol 2008
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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
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10
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
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10
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.