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



Lubov Blumkin, Marina Michelson, Esther Leshinsky-Silver, Sara Kivity, Dorit Lev, Tally Lerman-Sagie. J Child Neurol 2010
Times Cited: 31




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


Rare CACNA1A mutations leading to congenital ataxia.
Mercè Izquierdo-Serra, José M Fernández-Fernández, Mercedes Serrano. Pflugers Arch 2020
3

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

Exploring Neuronal Vulnerability to Head Trauma Using a Whole Exome Approach.
Omar Ibrahim, Heidi G Sutherland, Neven Maksemous, Robert Smith, Larisa M Haupt, Lyn R Griffiths. J Neurotrauma 2020
1

Episodic Ataxias: Faux or Real?
Paola Giunti, Elide Mantuano, Marina Frontali. Int J Mol Sci 2020
1

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


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

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