Genetic background of the hereditary spastic paraplegia phenotypes in Hungary — An analysis of 58 probands-Reference-Cited by-同舟云学术

Genetic background of the hereditary spastic paraplegia phenotypes in Hungary — An analysis of 58 probands

Published:2016-05 Issue: Volume:364 Page:116-121
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Balicza Peter,Grosz Zoltan,Gonzalez Michael A.,Bencsik Renata,Pentelenyi Klara,Gal Aniko,Varga Edina,Klivenyi Peter,Koller Julia,Züchner Stephan,Molnar Maria Judit

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference51 articles.

1. Classification of the hereditary ataxias and paraplegias;Harding;Lancet,1983

2. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance;Finsterer;J. Neurol. Sci.,2012

3. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms;JK.;Acta Neuropathol.,2013

4. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms;Lo Giudice;Exp. Neurol.,2014

5. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline;der Auwera GA;Curr. Protoc. Bioinformatics,2013

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