Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
about
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsThe role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy.A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.Mitochondrial disease: genetics and management.The DNA Polymerase Gamma R953C Mutant Is Associated with Antiretroviral Therapy-Induced Mitochondrial ToxicityAdding to the burden: gastrointestinal symptoms and syndromes in multiple sclerosisPseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.Syndromes associated with mitochondrial DNA depletion.Recent advances in clinical neurogenetics.Inherited neuropathies: an update.Protecting the mitochondrial powerhouse.The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility.A novel thymidine phosphorylase mutation in a Chinese MNGIE patient.Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation.
P2860
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P2860
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
Mitochondrial neurogastrointes ...... l spectrum of POLG1 mutations.
@en
Mitochondrial neurogastrointestinal encephalomyopathy
@nl
type
label
Mitochondrial neurogastrointes ...... l spectrum of POLG1 mutations.
@en
Mitochondrial neurogastrointestinal encephalomyopathy
@nl
prefLabel
Mitochondrial neurogastrointes ...... l spectrum of POLG1 mutations.
@en
Mitochondrial neurogastrointestinal encephalomyopathy
@nl
P2093
P2860
P1433
P1476
Mitochondrial neurogastrointes ...... l spectrum of POLG1 mutations.
@en
P2093
Elliot L Dimberg
Lee-Jun C Wong
P2860
P2888
P304
P356
10.1007/S00415-011-6268-6
P577
2011-10-13T00:00:00Z