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New AARS2 Mutations in Two Siblings With Tremor, Downbeat Nystagmus, and Primary Amenorrhea: A Benign Phenotype Without Leukoencephalopathy
Author(s) -
De Michele Giovanna,
Galatolo Daniele,
Lieto Maria,
Maione Luigi,
Cocozza Sirio,
Santorelli Filippo Maria,
Filla Alessandro
Publication year - 2020
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/mdc3.12991
Subject(s) - leukoencephalopathy , phenotype , medicine , neuroscience , audiology , psychology , pediatrics , genetics , biology , disease , gene
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