A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.
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Dynamin-Related Protein 1 Inhibition Attenuates Cardiovascular Calcification in the Presence of Oxidative Stress.Mitochondrial dynamics in neuronal injury, development and plasticity.An emerging role for mitochondrial dynamics in schizophrenia.Mitochondrial Dynamics in Regulating the Unique Phenotypes of Cancer and Stem Cells.Cryo-EM Studies of Drp1 Reveal Cardiolipin Interactions that Activate the Helical Oligomer.Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.DNM1L Variant Alters Baseline Mitochondrial Function and Response to Stress in a Patient with Severe Neurological Dysfunction.A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA.Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission.Regulation of Mitochondrial Dynamics by Proteolytic Processing and Protein Turnover.Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein.Endoplasmic reticulum and mitochondria in diseases of motor and sensory neurons: a broken relationship?The peroxisome: an update on mysteries 2.0De novo mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
P2860
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P2860
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh-hant
name
A novel de novo dominant negat ...... hood epileptic encephalopathy.
@en
A novel de novo dominant negat ...... hood epileptic encephalopathy.
@nl
type
label
A novel de novo dominant negat ...... hood epileptic encephalopathy.
@en
A novel de novo dominant negat ...... hood epileptic encephalopathy.
@nl
prefLabel
A novel de novo dominant negat ...... hood epileptic encephalopathy.
@en
A novel de novo dominant negat ...... hood epileptic encephalopathy.
@nl
P2093
P2860
P356
P1476
A novel de novo dominant negat ...... hood epileptic encephalopathy.
@en
P2093
David C Chan
Jessica Klein
Jill A Fahrner
Michael Scott Perry
Raymond Liu
P2860
P304
P356
10.1002/AJMG.A.37721
P407
P577
2016-05-04T00:00:00Z