Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation-Reference-Cited by-同舟云学术

Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation

Published:2011-09 Issue:1-2 Volume:308 Page:168-172
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:fr
Short-container-title:Journal of the Neurological Sciences

Author:

Takeshita Eri,Saito Yoshiaki,Nakagawa Eiji,Komaki Hirofumi,Sugai Kenji,Sasaki Masayuki,Nezu Atsuo,Kitamura Junichi,Itoh Masayuki,Sawano Yoshie,Goto Yu-ichi

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

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1. A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation;Brain and Development;2023-11

2. Rare Variant Burden in Known Dystonia Genes in Population Controls and Sporadic Dystonia Patients;2017-09-27

3. Using the Neurofibromatosis Tumor Predisposition Syndromes to Understand Normal Nervous System Development;Scientifica;2014

4. Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation;Developmental Medicine & Child Neurology;2013-11-15

5. Role of epigenetics in Rett syndrome;Epigenomics;2013-10