Biallelic Mutations inDNM1Lare Associated with a Slowly Progressive Infantile Encephalopathy
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Title
Biallelic Mutations inDNM1Lare Associated with a Slowly Progressive Infantile Encephalopathy
Authors
Keywords
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Journal
HUMAN MUTATION
Volume 37, Issue 9, Pages 898-903
Publisher
Wiley
Online
2016-06-23
DOI
10.1002/humu.23033
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Note: Only part of the references are listed.- A novel de novo dominant negative mutation inDNM1Limpairs mitochondrial fission and presents as childhood epileptic encephalopathy
- (2016) Jill A. Fahrner et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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- DNM1L-related mitochondrial fission defect presenting as refractory epilepsy
- (2015) Jason R Vanstone et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy
- (2015) Cecilia Nolli et al. MITOCHONDRION
- Simultaneous impairment of mitochondrial fission and fusion reduces mitophagy and shortens replicative lifespan
- (2015) Dominik Bernhardt et al. Scientific Reports
- DNA polymerase γ and disease: what we have learned from yeast
- (2015) Tiziana Lodi et al. Frontiers in Genetics
- Disturbed mitochondrial dynamics and neurodegenerative disorders
- (2014) Florence Burté et al. Nature Reviews Neurology
- Mitochondrial Dynamics — Mitochondrial Fission and Fusion in Human Diseases
- (2013) Stephen L. Archer NEW ENGLAND JOURNAL OF MEDICINE
- Functional Mapping of Human Dynamin-1-Like GTPase Domain Based on X-ray Structure Analyses
- (2013) Julia Wenger et al. PLoS One
- Emerging roles of mitochondria in the evolution, biogenesis, and function of peroxisomes
- (2013) Abhishek Mohanty et al. Frontiers in Physiology
- Mitochondrial Dysfunction in Cancer
- (2013) Michelle L. Boland et al. Frontiers in Oncology
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- (2012) Gerald W. Dorn BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
- (2012) Hanan E Shamseldin et al. JOURNAL OF MEDICAL GENETICS
- Mitochondrial dynamics in neurodegeneration
- (2012) Kie Itoh et al. TRENDS IN CELL BIOLOGY
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- (2009) J. A. W. Heymann et al. JOURNAL OF CELL SCIENCE
- Mitochondrial fission factor Drp1 is essential for embryonic development and synapse formation in mice
- (2009) Naotada Ishihara et al. NATURE CELL BIOLOGY
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