Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.

Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.

Item
http://www.wikidata.org/entity/Q33994112
A neurodegenerative perspective on mitochondrial optic neuropathiesMitochondrial DNA deletions and depletion within paraspinal musclesSomatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles.Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia.Failed upregulation of TFAM protein and mitochondrial DNA in oxidatively deficient fibers of chronic obstructive pulmonary disease locomotor muscle.Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.Cytochrome c oxidase-intermediate fibres: importance in understanding the pathogenesis and treatment of mitochondrial myopathy.Diagnosis and treatment of mitochondrial myopathiesDigital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions.Mitochondrial DNA abnormalities in ophthalmological disease.Mitochondrial dysfunction in myofibrillar myopathy.Regenerative strategies for craniofacial disorders.Disturbed mitochondrial dynamics and neurodegenerative disorders.The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.Levator Palpebrae Biopsy and Diagnosis of Progressive External Ophthalmoplegia
P2860

Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.

Item
http://www.wikidata.org/entity/Q33994112
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.
@ast
Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.
@en
type
label
Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.
@ast
Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.
@en
prefLabel
Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.
@ast
Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932