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The Endless Expansion of the Phenotypic Spectrum of ATP 1A3 Mutations: A True Diagnostic Challenge
Author(s) -
Mencacci Niccolò E.
Publication year - 2016
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.12358
Subject(s) - dystonia , parkinsonism , cerebellar ataxia , missense mutation , medicine , atrophy , pediatrics , ataxia , neuroscience , movement disorders , intellectual disability , microcephaly , phenotype , psychology , pathology , genetics , disease , psychiatry , biology , gene