Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.
about
Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care teamCerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study.Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism.Biochemical analysis of the G517V POLG variant reveals wild-type like activity.Sensory neuronopathy in patients harbouring recessive polymerase γ mutationsA Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.Large-scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype.Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients.Mitochondrial deficiency in Cockayne syndrome.Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation.Inherited mitochondrial genomic instability and chemical exposures.NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening.Characterizing POLG ataxia: clinics, electrophysiology and imaging.A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome.A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.POLG mutations in Australian patients with mitochondrial disease.
P2860
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P2860
Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.
description
2009 nî lūn-bûn
@nan
2009年の論文
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2009年学术文章
@wuu
2009年学术文章
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2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
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2009年學術文章
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2009年學術文章
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name
Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.
@en
Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.
@nl
type
label
Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.
@en
Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.
@nl
prefLabel
Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.
@en
Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.
@nl
P50
P1433
P1476
Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.
@en
P304
P356
10.1212/WNL.0B013E3181B78488
P407
P577
2009-09-01T00:00:00Z