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Synofzik, M.* ; Kernstock, C.* ; Haack, T.B. ; Schöls, L.*

Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations.

J. Neurol. Neurosurg. Psychiatr. 86, 580-581 (2015)
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Open Access Green as soon as Postprint is submitted to ZB.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Cerebellar Ataxia ; Cerebellar Degeneration ; Movement Disorders ; Neurogenetics ; Neuroophthalmology
Language english
Publication Year 2015
Prepublished in Year 2014
HGF-reported in Year 2014
ISSN (print) / ISBN 0022-3050
e-ISSN 1468-330X
Quellenangaben Volume: 86, Issue: 5, Pages: 580-581 Article Number: , Supplement: ,
Publisher BMJ Publishing Group
Publishing Place London
Reviewing status Peer reviewed
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
Scopus ID 84927591958
Scopus ID 84899470232
Erfassungsdatum 2014-05-09