Concepedia

Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I–II loop

F. Cricchi, Cherubino Di Lorenzo, G.S. Grieco, Chiara Rengo, Alessio Cardinale, Mauro Racaniello, Filippo M. Santorelli, Giuseppe Nappi, Francesco Pierelli, Carlo Casali

Journal of the Neurological Sciences · 2007 · 27 citations · 8 references

DOI

Concepts

References

8

The I-II Loop of the Ca 2+ Channel α 1 Subunit Contains an Endoplasmic Reticulum Retention Signal Antagonized by the β Subunit

Delphine Bichet, Véronique Cornet, Sandrine Geib et al. · Neuron · 2000 · 374 citations · Full text

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Complete Loss of P/Q Calcium Channel Activity Caused by a CACNA1A Missense Mutation Carried by Patients with Episodic Ataxia Type 2

Serena Guida, Flavia Trettel, Stefano Pagnutti et al. · The American Journal of Human Genetics · 2001 · 156 citations · Full text

, , +14

Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new <i>CACNA1A</i> mutation

E. E. Kors, Atle Melberg, Kaate R. J. Vanmolkot et al. · Neurology · 2004 · 117 citations

, , +14

Phenotypes of Spinocerebellar Ataxia Type 6 and Familial Hemiplegic Migraine Caused by a Unique CACNA1A Missense Mutation in Patients From a Large Family

Isabel Alonso, José Barros, Assunção Tuna et al. · Archives of Neurology · 2003 · 86 citations · Full text

, , +16

Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM

Kathryn Friend, Denis Crimmins, Thanh G. Phan et al. · Human Genetics · 1999 · 70 citations

, , +8