(Q37404541)

20 August 2017

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title

Multisystem manifestations of mitochondrial disorders (English)

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20 August 2017

Stefano Di Donato

1

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20 August 2017

publication date

1 March 2009

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20 August 2017

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20 August 2017

volume

256

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20 August 2017

issue

5

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20 August 2017

page(s)

693-710

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Glucose metabolism alterations in Friedreich's ataxia

20 August 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FS00415-009-5028-3

Mitochondrial diseases in man and mouse

21 January 2018

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Crossref

https://api.crossref.org/works/10.1007%2FS00415-009-5028-3

155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands

21 January 2018

1 reference

12 December 2020

OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape

1 reference

12 December 2020

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia

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12 December 2020

Oxygen tension regulates mitochondrial DNA-encoded complex I gene expression

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12 December 2020

Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

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12 December 2020

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

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12 December 2020

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

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12 December 2020

Mitochondrial DNA transfer RNA mutation Leu(UUR)A-->G 3260: a second family with myopathy and cardiomyopathy

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12 December 2020

Mitochondrial complex I: structure, function and pathology

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12 December 2020

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

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12 December 2020

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

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12 December 2020

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

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12 December 2020

What causes mitochondrial DNA deletions in human cells?

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12 December 2020

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

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12 December 2020

Cardiomyopathies in disorders of oxidative metabolism

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12 December 2020

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high

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12 December 2020

A novel X-linked gene, G4.5. is responsible for Barth syndrome

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12 December 2020

A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy

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12 December 2020

The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation

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12 December 2020

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

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12 December 2020

Crosstalk between nuclear and mitochondrial genomes

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

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12 December 2020

Pathways to motor incoordination: the inherited ataxias

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12 December 2020

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

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12 December 2020

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

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12 December 2020

Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects

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12 December 2020

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome

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12 December 2020

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

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12 December 2020

CoQ10 deficiency diseases in adults

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12 December 2020

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

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12 December 2020

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

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12 December 2020

The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathy

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12 December 2020

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

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12 December 2020

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

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12 December 2020

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

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12 December 2020

Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas

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12 December 2020

A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations

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12 December 2020

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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12 December 2020

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

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12 December 2020

Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene

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12 December 2020

The emerging concept of mitochondrial cardiomyopathies

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12 December 2020

A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy.

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12 December 2020

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts

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12 December 2020

Disorders of nuclear-mitochondrial intergenomic signalling.

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12 December 2020

Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome

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12 December 2020

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

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12 December 2020

Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis

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12 December 2020

Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes

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12 December 2020

Kearns-Sayre's syndrome developing in a boy who survived pearson's syndrome caused by mitochondrial DNA deletion

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12 December 2020

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

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12 December 2020

A Novel mtDNA Point Mutation in Maternally Inherited Cardiomyopathy

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12 December 2020

Buffering mitochondrial DNA variation

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12 December 2020

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study

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12 December 2020

Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene

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12 December 2020

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

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12 December 2020

Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses.

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12 December 2020

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase

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12 December 2020

Mitochondrial diabetes: investigation and identification of a novel mutation

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12 December 2020

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

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12 December 2020

Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood

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12 December 2020

Infantile and pediatric quinone deficiency diseases

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12 December 2020

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

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12 December 2020

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.

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12 December 2020

Oxygen activation and the conservation of energy in cell respiration

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12 December 2020

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

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12 December 2020

A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome

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12 December 2020

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma

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12 December 2020

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

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12 December 2020

Maternal transmission of diabetes.

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12 December 2020

Maternal inheritance of human mitochondrial DNA

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12 December 2020

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

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12 December 2020

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

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12 December 2020

Mutations in coenzyme Q10 biosynthetic genes

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12 December 2020

Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation.

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12 December 2020

Mitochondrial disorders

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12 December 2020

Kearns-Sayre syndrome presenting as renal tubular acidosis

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12 December 2020

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

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12 December 2020

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

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12 December 2020

Deletion of the mitochondrial DNA in a case of de Toni-Debr�-Fanconi syndrome and Pearson syndrome

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12 December 2020

Oxidative phosphorylation at the fin de siècle

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12 December 2020

A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.

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12 December 2020

Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome

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12 December 2020

Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome

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12 December 2020

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Mitochondrial hepatopathies: advances in genetics and pathogenesis

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12 December 2020

Cardiac conduction in the Kearns-Sayre syndrome (a neuromuscular disorder associated with progressive external ophthalmoplegia and pigmentary retinopathy). Report of 2 cases and review of 17 published cases

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12 December 2020

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

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12 December 2020

Pathogenic mitochondrial DNA mutations are common in the general population

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12 December 2020

Mitochondrial DNA mutations in human disease

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12 December 2020

Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).

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12 December 2020

Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus.

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12 December 2020

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

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12 December 2020

Mitochondrial disorders in the nervous system

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12 December 2020

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

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12 December 2020

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

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12 December 2020

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

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12 December 2020

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

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12 December 2020

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

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12 December 2020

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

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12 December 2020

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy

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12 December 2020

Role of adenine nucleotide translocator 1 in mtDNA maintenance

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12 December 2020

Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders

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12 December 2020

Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease

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12 December 2020

Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex

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12 December 2020

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

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12 December 2020

A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency

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12 December 2020

Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation

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12 December 2020

Melas: an original case and clinical criteria for diagnosis

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12 December 2020

Mitochondrial disorders and the kidney

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12 December 2020

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)

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12 December 2020

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

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12 December 2020

Tubulointerstitial nephritis associated with a novel mitochondrial point mutation

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12 December 2020

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

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12 December 2020

Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA

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12 December 2020

An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy

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12 December 2020

Mitochondrial defects and hearing loss

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12 December 2020

The machinery of mitochondrial inheritance and behavior

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12 December 2020

Disorders caused by deficiency of succinate-CoA ligase

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12 December 2020

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12 December 2020

Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA

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12 December 2020

Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia.

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12 December 2020

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene

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12 December 2020

Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness

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12 December 2020

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

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12 December 2020

Prevalence and progression of diabetes in mitochondrial disease

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12 December 2020

Misconceptions about mitochondria and mammalian fertilization: implications for theories on human evolution

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12 December 2020

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

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12 December 2020

Subacute necrotizing encephalomyelopathy in an infant

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12 December 2020

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

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12 December 2020

Prevalence of mitochondrial DNA disease in adults

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12 December 2020

10.1007/S00415-009-5028-3

Identifiers

DOI

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20 August 2017

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