A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum-Reference-Cited by-同舟云学术

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

Published:2013-05 Issue:5 Volume:92 Page:767-773
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Simons Cas,Wolf Nicole I.,McNeil Nathan,Caldovic Ljubica,Devaney Joseph M.,Takanohashi Asako,Crawford Joanna,Ru Kelin,Grimmond Sean M.,Miller David,Tonduti Davide,Schmidt Johanna L.,Chudnow Robert S.,van Coster Rudy,Lagae Lieven,Kisler Jill,Sperner Jürgen,van der Knaap Marjo S.,Schiffmann Raphael,Taft Ryan J.,Vanderver Adeline

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference24 articles.

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2. Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology;van der Knaap;Neurology,2007

3. Cerebral folate deficiency and folinic acid treatment in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome;Mercimek-Mahmutoglu;Tohoku J. Exp. Med.,2007

4. Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case;Mercimek-Mahmutoglu;Neuropediatrics,2005

5. The cerebrospinal fluid level of 5-methylterahydrofolate in a Japanese boy with hypomyelination with atrophy of the basal ganglia and cerebellum;Wakusawa;Tohoku J. Exp. Med.,2007

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