A new PNPLA6 mutation presenting as Oliver McFarlane syndrome-Reference-Cited by-同舟云学术

A new PNPLA6 mutation presenting as Oliver McFarlane syndrome

Published:2018-09 Issue: Volume:392 Page:1-2
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Patsi O.,De Beaufort C.,Kerschen P.,Cardillo S.,Soehn A.,Rautenberg M.,Diederich N.J.

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference10 articles.

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3. PNPLA6-related disorders;Synofzik,2014

4. PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum;Synofzik;Brain,2014

5. Different cerebellar Ataxia phenotypes associated with mutations of the PNPLA6 gene in Brazilian patients with recessive ataxias;Teive;Cerebellum,2017

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