Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy-Reference-Cited by-同舟云学术

Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy

Published:2012-04-27 Issue:1 Volume:33 Page:59-67
ISSN:0919-6544
Container-title:Neuropathology
language:en
Short-container-title:

Author:

Nolte Kay W.,Trepels-Kottek Sonja,Honnef Dagmar,Weis Joachim,Bien Christian G.,van Baalen Andreas,Ritter Klaus,Czermin Birgit,Rudnik-Schöneborn Sabine,Wagner Norbert,Häusler Martin

Publisher

Wiley

Subject

Clinical Neurology,General Medicine,Pathology and Forensic Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1440-1789.2012.01317.x/fullpdf

Reference32 articles.

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2. POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders;Saneto;Seizure,2010

3. Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features;Wolf;Epilepsia,2009

4. Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): a personal review;Harding;J Child Neurol,1990

5. Progressive neuronal degeneration of childhood with liver disease (“Alpers' disease”): characteristic neurophysiological features;Boyd;Neuropediatrics,1986

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1. iPSC-Derived Neurons from Patients with POLG Mutations Exhibit Decreased Mitochondrial Content and Dendrite Simplification;The American Journal of Pathology;2023-02

2. The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence;Orphanet Journal of Rare Diseases;2022-09-02

3. Homozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodes;Mitochondrion;2019-09

4. Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review;Epilepsia;2016-08-24

5. The broadening spectrum of mitochondrial disease: Shifts in the diagnostic paradigm;Biochimica et Biophysica Acta (BBA) - General Subjects;2014-04