Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options (Q26865135)

language of work or name

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April 2013

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10

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issue

2

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page(s)

186-98

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Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Navajo neurohepatopathy is caused by a mutation in the MPV17 gene

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Cloning of the cDNA and chromosome localization of the gene for human thymidine kinase 2

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Mitochondrial DNA polymerases from yeast to man: a new family of polymerases

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Cloning and expression of human deoxyguanosine kinase cDNA

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Mitochondrial DNA depletion and dGK gene mutations

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Localization and characterization of the mitochondrial isoform of the nucleoside diphosphate kinase in the pancreatic beta cell: evidence for its complexation with mitochondrial succinyl-CoA synthetase

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Epilepsy in mitochondrial disorders.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Mitochondrial syndromes with leukoencephalopathies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Mitochondrial disease and epilepsy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Pyruvate therapy for mitochondrial DNA depletion syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Mitochondrial DNA mutations and depletion in pediatric medicine.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Inherited mitochondrial neuropathies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Mitochondrial DNA depletion syndromes--many genes, common mechanisms

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Clinical and molecular features of mitochondrial DNA depletion syndromes.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Ribonucleotide reduction is a cytosolic process in mammalian cells independently of DNA damage

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Depletion of mtDNA: syndromes and genes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Two families with autosomal dominant progressive external ophthalmoplegia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Diagnosis and management of MNGIE syndrome in children: case report and review of the literature

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Treatment of mitochondrial cytopathies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Primary hypogonadism in females with infantile onset spinocerebellar ataxia.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Early childhood hepatocerebral degeneration misdiagnosed as valproate hepatotoxicity

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood

31 May 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Binding of the volatile anesthetic chloroform to albumin demonstrated using tryptophan fluorescence quenching.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

New mutations in TK2 gene associated with mitochondrial DNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Respiratory chain deficiency in Alpers syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

POLG mutations in Alpers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Molecular diagnosis of Alpers syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Phenotype and clinical course in a family with a new de novo Twinkle gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Multiple mtDNA deletions with features of MNGIE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Mitochondrial disorders, cognitive impairment and dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0177-6

Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Progressive cerebral degeneration of childhood with liver disease (Alpers Huttenlocher disease) with cytochrome oxidase deficiency presenting with epilepsia partialis continua as the first clinical manifestation.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

Infantile-onset spinocerebellar ataxia: MR and CT findings

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625391

MR imaging findings in the reticular formation in siblings with MPV17-related mitochondrial depletion syndrome

28 November 2018

1 reference

12 December 2020

Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease

1 reference

12 December 2020

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia

1 reference

12 December 2020

Mitochondrial myopathy simulating spinal muscular atrophy

1 reference

12 December 2020

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy

1 reference

12 December 2020

Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria

1 reference

12 December 2020

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion

1 reference

12 December 2020

Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA)

1 reference

12 December 2020

Infusion of platelets transiently reduces nucleoside overload in MNGIE

1 reference

12 December 2020

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

1 reference

12 December 2020

The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies

1 reference

12 December 2020

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

1 reference

12 December 2020

Liver transplantation: to do or not to do?

1 reference

12 December 2020

10.1007/S13311-013-0177-6

Identifiers

DOI

1 reference

Dimensions Publication ID

1044978942

0 references

1 reference

1 reference

PubMed publication ID

23385875

1 reference