Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.
about
Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosisMulti-system neurological disease is common in patients with OPA1 mutationsSpastic paraplegia type 7 is associated with multiple mitochondrial DNA deletionsAutosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.Biochemical analysis of human POLG2 variants associated with mitochondrial disease.Endocrine manifestations related to inherited metabolic diseases in adults.Dominant membrane uncoupling by mutant adenine nucleotide translocase in mitochondrial diseases.Inherited mitochondrial optic neuropathies.Mouse models of oxidative phosphorylation defects: powerful tools to study the pathobiology of mitochondrial diseases.DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.Yeast cells expressing the human mitochondrial DNA polymerase reveal correlations between polymerase fidelity and human disease progressionThe clinical maze of mitochondrial neurologyMitochondrial Membrane Dynamics and Inherited Optic Neuropathies.Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy.OPA1 analysis in an international series of probands with bilateral optic atrophy.Progressive external ophthalmoplegia in southwestern Finland: a clinical and genetic study.Genotype–phenotype correlations in mitochondrial optic neuropathies
P2860
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P2860
Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Progressive external ophthalmo ...... h mutations in POLG2 and OPA1.
@ast
Progressive external ophthalmo ...... h mutations in POLG2 and OPA1.
@en
type
label
Progressive external ophthalmo ...... h mutations in POLG2 and OPA1.
@ast
Progressive external ophthalmo ...... h mutations in POLG2 and OPA1.
@en
prefLabel
Progressive external ophthalmo ...... h mutations in POLG2 and OPA1.
@ast
Progressive external ophthalmo ...... h mutations in POLG2 and OPA1.
@en
P2093
P2860
P50
P1433
P1476
Progressive external ophthalmo ...... th mutations in POLG2 and OPA1
@en
P2093
Emanuela Garelli
Guido Davidzon
Matthew J Longley
Michelangelo Mancuso
Michio Hirano
Purificación Gutiérrez Ríos
Salvatore DiMauro
Silvio Ferraris
Susanna Clark
P2860
P304
P356
10.1001/ARCHNEUROL.2007.9
P577
2008-01-01T00:00:00Z