Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.
about
Cone rod dystrophiesComparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxiaAlleviation of neuronal energy deficiency by mTOR inhibition as a treatment for mitochondria-related neurodegenerationAdaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutationPrevious estimates of mitochondrial DNA mutation level variance did not account for sampling error: comparing the mtDNA genetic bottleneck in mice and humans.Transcriptional profile analysis of RPGRORF15 frameshift mutation identifies novel genes associated with retinal degeneration.Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneckPreventing the transmission of pathogenic mitochondrial DNA mutations: Can we achieve long-term benefits from germ-line gene transfer?
P2860
Q21202953-18220E4D-FF82-49F4-80F0-B2946DB7686BQ24307380-8662B59F-50BB-432F-A9C0-ABCEBBE03E73Q28834138-DB26F7C1-77F2-4C2C-844D-8639B7643508Q30853128-900C741E-6CC0-4217-ACDC-3C059864BE40Q33772977-D7E77C15-8088-43A9-AE36-6DA7D09AB91FQ34702209-92CF78DE-978C-46A5-BFFC-0EE41CA1AD43Q36581411-A3C2BE97-F4A6-424D-B689-BA21B89E43AAQ36607471-F866B6CF-7C22-42B7-BC92-52C08D10CEF7
P2860
Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh
2001年學術文章
@zh-hant
name
Isolated late-onset cone-rod d ...... T8993G mitochondrial mutation.
@en
Isolated late-onset cone-rod d ...... T8993G mitochondrial mutation.
@nl
type
label
Isolated late-onset cone-rod d ...... T8993G mitochondrial mutation.
@en
Isolated late-onset cone-rod d ...... T8993G mitochondrial mutation.
@nl
prefLabel
Isolated late-onset cone-rod d ...... T8993G mitochondrial mutation.
@en
Isolated late-onset cone-rod d ...... T8993G mitochondrial mutation.
@nl
P2093
P1476
Isolated late-onset cone-rod d ...... T8993G mitochondrial mutation
@en
P2093
P304
P356
10.1016/S0002-9394(01)01187-4
P407
P577
2001-12-01T00:00:00Z