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Document type:
journal article 
Author(s):
Charif, Majida; Nasca, Alessia; Thompson, Kyle; Gerber, Sylvie; Makowski, Christine; Mazaheri, Neda; Bris, Céline; Goudenège, David; Legati, Andrea; Maroofian, Reza; Shariati, Gholamreza; Lamantea, Eleonora; Hopton, Sila; Ardissone, Anna; Moroni, Isabella; Giannotta, Melania; Siegel, Corinna; Strom, Tim M; Prokisch, Holger; Vignal-Clermont, Catherine; Derrien, Sabine; Zanlonghi, Xavier; Kaplan, Josseline; Hamel, Christian P; Leruez, Stephanie; Procaccio, Vincent; Bonneau, Dominique; Reynier, Pas...    »
 
Title:
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults. 
Abstract:
Neurologic disorders with isolated symptoms or complex syndromes are relatively frequent among mitochondrial inherited diseases. Recessive RTN4IP1 gene mutations have been shown to cause isolated and syndromic optic neuropathies.To define the spectrum of clinical phenotypes associated with mutations in RTN4IP1 encoding a mitochondrial quinone oxidoreductase.This study involved 12 individuals from 11 families with severe central nervous system diseases and optic atrophy. Targeted and whole-exome...    »
 
Journal title abbreviation:
JAMA Neurol 
Year:
2018 
Journal volume:
75 
Journal issue:
Pages contribution:
105-113 
Language:
eng 
Print-ISSN:
2168-6149 
TUM Institution:
Klinik und Poliklinik für Kinder- und Jugendmedizin