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, J Haan, D Lindhout, G J van Ommen, M H Hofker, M D Ferrari, R R Frants. Cell 1996
Times Cited: 1747
Times Cited: 1747
Times Cited
Times Co-cited
Similarity
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
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
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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
Maurizio De Fusco, Roberto Marconi, Laura Silvestri, Luigia Atorino, Luca Rampoldi, Letterio Morgante, Andrea Ballabio, Paolo Aridon, Giorgio Casari. Nat Genet 2003
21
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
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
18
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
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
17
Headache Classification Committee of the International Headache Society (IHS) The International Classification of Headache Disorders, 3rd edition.
. Cephalalgia 2018
. Cephalalgia 2018
17
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
Lena Damaj, Alexis Lupien-Meilleur, Anne Lortie, Émilie Riou, Luis H Ospina, Louise Gagnon, Catherine Vanasse, Elsa Rossignol. Eur J Hum Genet 2015
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
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
15
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
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Migraine pathophysiology: lessons from mouse models and human genetics.
Michel D Ferrari, Roselin R Klever, Gisela M Terwindt, Cenk Ayata, Arn M J M van den Maagdenberg. Lancet Neurol 2015
Michel D Ferrari, Roselin R Klever, Gisela M Terwindt, Cenk Ayata, Arn M J M van den Maagdenberg. Lancet Neurol 2015
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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
J C Jen, T D Graves, E J Hess, M G Hanna, R C Griggs, R W Baloh. Brain 2007
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Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.
Padhraig Gormley, Verneri Anttila, Bendik S Winsvold, Priit Palta, Tonu Esko, Tune H Pers, Kai-How Farh, Ester Cuenca-Leon, Mikko Muona, Nicholas A Furlotte,[...]. Nat Genet 2016
Padhraig Gormley, Verneri Anttila, Bendik S Winsvold, Priit Palta, Tonu Esko, Tune H Pers, Kai-How Farh, Ester Cuenca-Leon, Mikko Muona, Nicholas A Furlotte,[...]. Nat Genet 2016
14
Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2.
Loredana Leo, Lisa Gherardini, Virginia Barone, Maurizio De Fusco, Daniela Pietrobon, Tommaso Pizzorusso, Giorgio Casari. PLoS Genet 2011
Loredana Leo, Lisa Gherardini, Virginia Barone, Maurizio De Fusco, Daniela Pietrobon, Tommaso Pizzorusso, Giorgio Casari. PLoS Genet 2011
13
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
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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Pathophysiology of Migraine: A Disorder of Sensory Processing.
Peter J Goadsby, Philip R Holland, Margarida Martins-Oliveira, Jan Hoffmann, Christoph Schankin, Simon Akerman. Physiol Rev 2017
Peter J Goadsby, Philip R Holland, Margarida Martins-Oliveira, Jan Hoffmann, Christoph Schankin, Simon Akerman. Physiol Rev 2017
12
Enhanced excitatory transmission at cortical synapses as the basis for facilitated spreading depression in Ca(v)2.1 knockin migraine mice.
Angelita Tottene, Rossella Conti, Alessandra Fabbro, Dania Vecchia, Maryna Shapovalova, Mirko Santello, Arn M J M van den Maagdenberg, Michel D Ferrari, Daniela Pietrobon. Neuron 2009
Angelita Tottene, Rossella Conti, Alessandra Fabbro, Dania Vecchia, Maryna Shapovalova, Mirko Santello, Arn M J M van den Maagdenberg, Michel D Ferrari, Daniela Pietrobon. Neuron 2009
12
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
11
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
19
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
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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The International Classification of Headache Disorders, 3rd edition (beta version).
. Cephalalgia 2013
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10
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
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
10
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
19
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
10
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
10
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
9
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
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
31
The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature.
E Indelicato, W Nachbauer, E Karner, A Eigentler, M Wagner, I Unterberger, W Poewe, M Delazer, S Boesch. Eur J Neurol 2019
E Indelicato, W Nachbauer, E Karner, A Eigentler, M Wagner, I Unterberger, W Poewe, M Delazer, S Boesch. Eur J Neurol 2019
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Chaos and commotion in the wake of cortical spreading depression and spreading depolarizations.
Daniela Pietrobon, Michael A Moskowitz. Nat Rev Neurosci 2014
Daniela Pietrobon, Michael A Moskowitz. Nat Rev Neurosci 2014
9
Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2.
Clizia Capuani, Marcello Melone, Angelita Tottene, Luca Bragina, Giovanna Crivellaro, Mirko Santello, Giorgio Casari, Fiorenzo Conti, Daniela Pietrobon. EMBO Mol Med 2016
Clizia Capuani, Marcello Melone, Angelita Tottene, Luca Bragina, Giovanna Crivellaro, Mirko Santello, Giorgio Casari, Fiorenzo Conti, Daniela Pietrobon. EMBO Mol Med 2016
13
Migraine: multiple processes, complex pathophysiology.
Rami Burstein, Rodrigo Noseda, David Borsook. J Neurosci 2015
Rami Burstein, Rodrigo Noseda, David Borsook. J Neurosci 2015
9
Mechanisms of migraine aura revealed by functional MRI in human visual cortex.
N Hadjikhani, M Sanchez Del Rio, O Wu, D Schwartz, D Bakker, B Fischl, K K Kwong, F M Cutrer, B R Rosen, R B Tootell,[...]. Proc Natl Acad Sci U S A 2001
N Hadjikhani, M Sanchez Del Rio, O Wu, D Schwartz, D Bakker, B Fischl, K K Kwong, F M Cutrer, B R Rosen, R B Tootell,[...]. Proc Natl Acad Sci U S A 2001
9
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
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
40
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
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
28
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
Lubov Blumkin, Marina Michelson, Esther Leshinsky-Silver, Sara Kivity, Dorit Lev, Tally Lerman-Sagie. J Child Neurol 2010
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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
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
34
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
21
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
Angelita Tottene, Tommaso Fellin, Stefano Pagnutti, Siro Luvisetto, Joerg Striessnig, Colin Fletcher, Daniela Pietrobon. Proc Natl Acad Sci U S A 2002
8
Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management.
Michael Bjørn Russell, Anne Ducros. Lancet Neurol 2011
Michael Bjørn Russell, Anne Ducros. Lancet Neurol 2011
8
8
Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation.
Nadine Pelzer, Joost Haan, Anine H Stam, Lisanne S Vijfhuizen, Stephany C Koelewijn, Amber Smagge, Boukje de Vries, Michel D Ferrari, Arn M J M van den Maagdenberg, Gisela M Terwindt. Neurology 2018
Nadine Pelzer, Joost Haan, Anine H Stam, Lisanne S Vijfhuizen, Stephany C Koelewijn, Amber Smagge, Boukje de Vries, Michel D Ferrari, Arn M J M van den Maagdenberg, Gisela M Terwindt. Neurology 2018
25
Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects.
Sandrine Cestèle, Emanuele Schiavon, Raffaella Rusconi, Silvana Franceschetti, Massimo Mantegazza. Proc Natl Acad Sci U S A 2013
Sandrine Cestèle, Emanuele Schiavon, Raffaella Rusconi, Silvana Franceschetti, Massimo Mantegazza. Proc Natl Acad Sci U S A 2013
12
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
Takuya Hayashida, Yoshiaki Saito, Atsushi Ishii, Hiroyuki Yamada, Ayako Itakura, Toshinori Minato, Tetsuhiro Fukuyama, Yoshihiro Maegaki, Shinichi Hirose. Brain Dev 2018
46
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
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
14
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
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
7
Activation of meningeal nociceptors by cortical spreading depression: implications for migraine with aura.
Xichun Zhang, Dan Levy, Rodrigo Noseda, Vanessa Kainz, Moshe Jakubowski, Rami Burstein. J Neurosci 2010
Xichun Zhang, Dan Levy, Rodrigo Noseda, Vanessa Kainz, Moshe Jakubowski, Rami Burstein. J Neurosci 2010
7
Casein kinase iδ mutations in familial migraine and advanced sleep phase.
K C Brennan, Emily A Bates, Robert E Shapiro, Jekaterina Zyuzin, William C Hallows, Yong Huang, Hsien-Yang Lee, Christopher R Jones, Ying-Hui Fu, Andrew C Charles,[...]. Sci Transl Med 2013
K C Brennan, Emily A Bates, Robert E Shapiro, Jekaterina Zyuzin, William C Hallows, Yong Huang, Hsien-Yang Lee, Christopher R Jones, Ying-Hui Fu, Andrew C Charles,[...]. Sci Transl Med 2013
7
Activation of central trigeminovascular neurons by cortical spreading depression.
Xichun Zhang, Dan Levy, Vanessa Kainz, Rodrigo Noseda, Moshe Jakubowski, Rami Burstein. Ann Neurol 2011
Xichun Zhang, Dan Levy, Vanessa Kainz, Rodrigo Noseda, Moshe Jakubowski, Rami Burstein. Ann Neurol 2011
7
Spreading depression triggers headache by activating neuronal Panx1 channels.
Hulya Karatas, Sefik Evren Erdener, Yasemin Gursoy-Ozdemir, Sevda Lule, Emine Eren-Koçak, Zümrüt Duygu Sen, Turgay Dalkara. Science 2013
Hulya Karatas, Sefik Evren Erdener, Yasemin Gursoy-Ozdemir, Sevda Lule, Emine Eren-Koçak, Zümrüt Duygu Sen, Turgay Dalkara. Science 2013
7
Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation.
A H Stam, G-J Luijckx, B T Poll-Thé, I B Ginjaar, R R Frants, J Haan, M D Ferrari, G M Terwindt, A M J M van den Maagdenberg. J Neurol Neurosurg Psychiatry 2009
A H Stam, G-J Luijckx, B T Poll-Thé, I B Ginjaar, R R Frants, J Haan, M D Ferrari, G M Terwindt, A M J M van den Maagdenberg. J Neurol Neurosurg Psychiatry 2009
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.