A citation-based method for searching scientific literature

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
Times Cited: 978



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: 1387




List of shared articles



Times cited

Clinical phenotypes of infantile onset CACNA1A-related disorder.
Tamar Gur-Hartman, Oren Berkowitz, Keren Yosovich, Agathe Roubertie, Ginevra Zanni, Alfons Macaya, Gali Heimer, Belén Pérez Dueñas, Deborah A Sival, Ben Pode-Shakked,[...]. Eur J Paediatr Neurol 2021
2

The electrophysiological footprint of CACNA1A disorders.
Elisabetta Indelicato, Iris Unterberger, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Fiona Zeiner, Edda Haberlandt, Manuela Kaml, Elke Gizewski, Sylvia Boesch. J Neurol 2021
2

Paroxysmal Genetic Movement Disorders and Epilepsy.
Claudio M de Gusmão, Lucas Garcia, Mohamad A Mikati, Samantha Su, Laura Silveira-Moriyama. Front Neurol 2021
0

The childhood migraine syndrome.
Ishaq Abu-Arafeh, Amy A Gelfand. Nat Rev Neurol 2021
0


A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.
Pierre Coste de Bagneaux, Leonie von Elsner, Tatjana Bierhals, Marta Campiglio, Jessika Johannsen, Gerald J Obermair, Maja Hempel, Bernhard E Flucher, Kerstin Kutsche. PLoS Genet 2020
2

Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.
Fanny Jaudon, Simona Baldassari, Ilaria Musante, Agnes Thalhammer, Federico Zara, Lorenzo A Cingolani. Biomedicines 2020
1

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
8

Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant.
Rosaria Nardello, Giorgia Plicato, Giuseppe Donato Mangano, Elena Gennaro, Salvatore Mangano, Filippo Brighina, Vincenzo Raieli, Antonina Fontana. BMC Neurol 2020
3

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.
Giacomo Garone, Alessandro Capuano, Lorena Travaglini, Federica Graziola, Fabrizia Stregapede, Ginevra Zanni, Federico Vigevano, Enrico Bertini, Francesco Nicita. Int J Mol Sci 2020
8

Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.
Claudia Stendel, Maria Cristina D'Adamo, Manuela Wiessner, Marina Dusl, Marta Cenciarini, Silvia Belia, Ehsan Nematian-Ardestani, Peter Bauer, Jan Senderek, Thomas Klopstock,[...]. Int J Mol Sci 2020
3

Ameliorating effect of rovatirelin on the ataxia in rolling mouse Nagoya.
Tomoyuki Ijiro, Atsushi Yaguchi, Ayaka Yokoyama, Yoshikazu Abe, Sumiyoshi Kiguchi. Eur J Pharmacol 2020
0

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
12

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Kathleen M Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis-Juan, Keren J Carss, Emily Bryant, Adi Reich, Amy L Schneider,[...]. Am J Hum Genet 2019
9

Advances in genetics of migraine.
Heidi G Sutherland, Cassie L Albury, Lyn R Griffiths. J Headache Pain 2019
23

Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA).
Francesca Prestori, Francesco Moccia, Egidio D'Angelo. Int J Mol Sci 2019
4

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
12

Spinocerebellar ataxia.
Thomas Klockgether, Caterina Mariotti, Henry L Paulson. Nat Rev Dis Primers 2019
91

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
John Taylor, Jude Craft, Edward Blair, Sarah Wordsworth, David Beeson, Saleel Chandratre, Judith Cossins, Tracy Lester, Andrea H Németh, Elizabeth Ormondroyd,[...]. Genome Med 2019
10

Paroxysmal movement disorders - practical update on diagnosis and management.
Claudio M De Gusmao, Laura Silveira-Moriyama. Expert Rev Neurother 2019
3



Whole-exome sequencing for variant discovery in blepharospasm.
Jun Tian, Satya R Vemula, Jianfeng Xiao, Enza Maria Valente, Giovanni Defazio, Simona Petrucci, Angelo Fabio Gigante, Monika Rudzińska-Bar, Zbigniew K Wszolek, Kathleen D Kennelly,[...]. Mol Genet Genomic Med 2018
14

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Aurélien Trimouille, Nada Houcinat, Marie-Laure Vuillaume, Patricia Fergelot, Cécile Boucher, Jérôme Toutain, Cédric Le Caignec, Marie Vincent, Mathilde Nizon, Joris Andrieux,[...]. Eur J Hum Genet 2018
4

Episodic ataxias.
Joanna C Jen, Jijun Wan. Handb Clin Neurol 2018
3

Purkinje Cell Signaling Deficits in Animal Models of Ataxia.
Eriola Hoxha, Ilaria Balbo, Maria Concetta Miniaci, Filippo Tempia. Front Synaptic Neurosci 2018
33

Episodic ataxias.
Joanna C Jen, Jijun Wan. Handb Clin Neurol 2018
19

Paradigm for disease deconvolution in rare neurodegenerative disorders in Indian population: insights from studies in cerebellar ataxias.
Renu Kumari, Deepak Kumar, Samir K Brahmachari, Achal K Srivastava, Mohammed Faruq, Mitali Mukerji. J Genet 2018
0


P/Q-type and T-type voltage-gated calcium channels are involved in the contraction of mammary and brain blood vessels from hypertensive patients.
A D Thuesen, K S Lyngsø, L Rasmussen, J Stubbe, O Skøtt, F R Poulsen, C B Pedersen, L M Rasmussen, P B L Hansen. Acta Physiol (Oxf) 2017
7

Keeping Our Calcium in Balance to Maintain Our Balance.
Melanie D Mark, Jan Claudius Schwitalla, Michelle Groemmke, Stefan Herlitze. Biochem Biophys Res Commun 2017
17

Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2.
Andrea Petrovicova, Miroslav Brozman, Egon Kurca, Tibor Gobo, Jana Dluha, Klaudia Kalmarova, Vladimir Nosal, Martina Hikkelova, Adriana Krajciova, Tatiana Burjanivova,[...]. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2017
5