Inherited mitochondrial neuropathies (Q37852880)

24 August 2017

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title

Inherited mitochondrial neuropathies (English)

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24 August 2017

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Josef Finsterer

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24 August 2017

language of work or name

English

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21402391

27 November 2024

publication date

13 March 2011

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full work available at URL

24 August 2017

https://api.elsevier.com/content/article/PII:S0022510X11000670?httpAccept=text/xml

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https://api.crossref.org/works/10.1016/J.JNS.2011.02.012

https://api.elsevier.com/content/article/PII:S0022510X11000670?httpAccept=text/plain

27 November 2024

1 reference

https://api.crossref.org/works/10.1016/J.JNS.2011.02.012

Journal of the Neurological Sciences

27 November 2024

published in

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24 August 2017

volume

304

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24 August 2017

issue

1-2

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24 August 2017

page(s)

9-16

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Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

24 August 2017

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GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance.

27 November 2024

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GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria

27 November 2024

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27 November 2024

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Targeting and function of the mitochondrial fission factor GDAP1 are dependent on its tail-anchor

27 November 2024

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A new POLG1 mutation with peo and severe axonal and demyelinating sensory–motor neuropathy

27 November 2024

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A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

27 November 2024

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Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA

27 November 2024

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A case of mitochondrial myopathy with MELAS-like features and polyneuropathy: ultrastructural and molecular studies

27 November 2024

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Demyelinating polyneuropathy in a patient with the tRNA(Leu)(UUR) mutation at base pair 3243 of the mitochondrial DNA.

27 November 2024

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Peripheral neuropathy of mitochondrial myopathies

27 November 2024

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Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

27 November 2024

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Neuropathy associated with mitochondrial disorders

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Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

27 November 2024

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Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation

27 November 2024

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Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys

27 November 2024

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Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA.

27 November 2024

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Unusual presentations of patients with the mitochondrial MERRF mutation A8344G.

27 November 2024

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POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness

27 November 2024

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A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA.

27 November 2024

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Multiple lipomas, alcoholism, and neuropathy: Madelung's disease or MERRF?

27 November 2024

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Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys

27 November 2024

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Mitochondrial dysfunction with myoclonus epilepsy and ragged-red fibers point mutation in nerve, muscle, and adipose tissue of a patient with multiple symmetric lipomatosis

27 November 2024

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27 November 2024

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27 November 2024

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Case of Leber's hereditary optic neuropathy with mitochondrial DNA 11778 mutation exhibiting cerebellar ataxia, dilated cardiomyopathy and peripheral neuropathy

27 November 2024

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Demyelinating polyneuropathy in Leber hereditary optic neuropathy

27 November 2024

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Atypical MRI findings in Kearns-Sayre syndrome: T2 radial stripes

27 November 2024

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27 November 2024

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27 November 2024

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Clinical and electrophysiologic study of the peripheral nerve in 28 cases of mitochondrial disease

27 November 2024

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27 November 2024

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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

27 November 2024

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Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

27 November 2024

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Role of adenine nucleotide translocator 1 in mtDNA maintenance

27 November 2024

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Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism

27 November 2024

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Leigh syndrome: clinical features and biochemical and DNA abnormalities.

27 November 2024

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Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings

27 November 2024

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Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome

27 November 2024

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Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation

27 November 2024

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High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes

27 November 2024

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Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

27 November 2024

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Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

27 November 2024

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Peripheral neuropathy in Leigh's disease

27 November 2024

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Juvenile Leigh syndrome with protracted course presenting as chronic sensory motor neuropathy, ataxia, deafness and retinitis pigmentosa: a clinicopathological report

27 November 2024

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Leigh disease presenting as Guillain-Barré syndrome

27 November 2024

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Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy

27 November 2024

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Juvenile-onset Leigh syndrome with an acute polyneuropathy at presentation

27 November 2024

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Sural nerve biopsy studies in Leigh's subacute necrotizing encephalomyelopathy

27 November 2024

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MNGIE syndrome in 2 siblings

27 November 2024

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

27 November 2024

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Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation

27 November 2024

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MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy

27 November 2024

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Mitochondrial neurogastrointestinal encephalomyopathy presenting with protein-losing gastroenteropathy and serum copper deficiency: a case report

27 November 2024

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SANDO: Two novel mutations in POLG1 gene

27 November 2024

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Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations

27 November 2024

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A case of mitochondrial myopathy with external ophthalmoplegia and ataxic neuropathy

27 November 2024

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The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

27 November 2024

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Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

27 November 2024

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SANDO: another presentation of mitochondrial disease.

27 November 2024

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[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]

27 November 2024

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Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

27 November 2024

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Mitochondrial recessive ataxia syndrome (MIRAS) and valproate toxicity

27 November 2024

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Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion

27 November 2024

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Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy

27 November 2024

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Early-onset familial parkinsonism due to POLG mutations

27 November 2024

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Alpers syndrome: progressive neuronal degeneration of children with liver disease

27 November 2024

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POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion

27 November 2024

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POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

27 November 2024

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Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

27 November 2024

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POLG mutations and Alpers syndrome

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Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease

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Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

27 November 2024

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Familial sensory autonomic neuropathy with arthropathy in Navajo children

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OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

27 November 2024

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27 November 2024

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27 November 2024

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Hereditary motor and sensory neuropathy type VI with optic atrophy

27 November 2024

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Neuromuscular disease presentation with three genetic defects involving two genomes

27 November 2024

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SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

27 November 2024

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Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees

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27 November 2024

Identifiers

1 reference

24 August 2017

1 reference