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







List of shared articles



Times cited

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


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

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

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

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

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

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

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