Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations-Reference-Cited by-同舟云学术

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Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations

Published:2008-06-10 Issue:9 Volume:23 Page:1286-1288
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov. Disord.

Author:

Paus Sebastian,Zsurka Gabor,Baron Miriam,Deschauer Marcus,Bamberg Christian,Klockgether Thomas,Kunz Wolfram S.,Kornblum Cornelia

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference15 articles.

1. Mitochondrial DNA polymerase-gamma and human disease;Hudson;Hum Mol Genet,2006

2. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene;Horvath;Brain,2006

3. The spectrum of clinical disease caused by the A467T and W748S POLG1 mutations: a study of 26 cases;Tzoulis;Brain,2006

4. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study;Luoma;Lancet,2004

5. Early-onset familial parkinsonism due to POLG1 mutations;Davidzon;Ann Neurol,2006

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1. POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings;Brain Sciences;2020-10-23

2. Towards Central Nervous System Involvement in Adults with Hereditary Myopathies;Journal of Neuromuscular Diseases;2020-09-18

3. NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION;Genome Biology;2019-11-14

4. Accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION;2018-10-09

5. Dystonia in a Patient with Autosomal‐Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene;Movement Disorders Clinical Practice;2016-07-08

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