Literature DB >> 11370629

Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2.

K A Scoggan, T Chandra, R Nelson, A F Hahn, D E Bulman.   

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Year:  2001        PMID： 11370629      PMCID： PMC1734855          DOI： 10.1136/jmg.38.4.249

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  4 in total

Review 1.  In vivo analysis of voltage-dependent calcium channels.

Authors:  Ling Liu; Theresa A Zwingman; Colin F Fletcher
Journal:  J Bioenerg Biomembr       Date:  2003-12       Impact factor: 2.945

Review 2.  Migraine genetics: an update.

Authors:  J Haan; E E Kors; Kaate R J Vanmolkot; Arn M J M van den Maagdenberg; Rune R Frants; M D Ferrari
Journal:  Curr Pain Headache Rep       Date:  2005-06

3.  Novel splice site CACNA1A mutation causing episodic ataxia type 2.

Authors:  M A Kaunisto; H Harno; M Kallela; H Somer; R Sallinen; E Hämäläinen; P J Miettinen; J Vesa; A Orpana; A Palotie; M Färkkilä; M Wessman
Journal:  Neurogenetics       Date:  2003-10-07       Impact factor: 2.660

Review 4.  Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.

Authors:  Wolfgang Nachbauer; Michael Nocker; Elfriede Karner; Iva Stankovic; Iris Unterberger; Andreas Eigentler; Rainer Schneider; Werner Poewe; Margarete Delazer; Sylvia Boesch
Journal:  J Neurol       Date:  2014-05       Impact factor: 4.849
  4 in total

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