about
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutationsRecent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practiceSANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.A guide to diagnosis and treatment of Leigh syndrome.Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism.Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.Mitochondrial dysfunction and oxidative stress in Parkinson's disease and monogenic parkinsonism.Diagnosis and treatment of mitochondrial myopathiesPropofol-related infusion syndrome heralding a mitochondrial disease: case report.POLG1-related and other "mitochondrial Parkinsonisms": an overview.Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 GeneThe molecular biology of genetic-based epilepsies.Inherited neuropathies: an update.MELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis.Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy.The spectrum of epilepsy caused by POLG mutations.Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.Movement disorders in mitochondrial disease.Peripheral neuropathy is a common manifestation of mitochondrial diseases: a single-centre experience.Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.POLG1 mutations in bipolar disorders.Polymerase gamma in bipolar disorder: It's complicated.Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation.POLG mutations in Australian patients with mitochondrial disease.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on March 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Polymerase gamma 1 mutations: clinical correlations.
@en
Polymerase gamma 1 mutations: clinical correlations.
@nl
type
label
Polymerase gamma 1 mutations: clinical correlations.
@en
Polymerase gamma 1 mutations: clinical correlations.
@nl
prefLabel
Polymerase gamma 1 mutations: clinical correlations.
@en
Polymerase gamma 1 mutations: clinical correlations.
@nl
P1433
P1476
Polymerase gamma 1 mutations: clinical correlations.
@en
P2093
Rami Massie
P356
10.1097/NRL.0B013E3181C78A89
P407
P577
2010-03-01T00:00:00Z