(Q26820866)

main subject

mitochondrial disease

1 reference

Amy C. Goldstein

1

1 reference

Poonam Bhatia

series ordinal

2

1 reference

Jodie M. Vento

series ordinal

3

1 reference

language of work or name

1 reference

April 2013

1 reference

1 reference

10

1 reference

issue

2

1 reference

page(s)

212-26

1 reference

https://scigraph.springernature.com/pub.10.1007/s13311-013-0185-6

exact match

0 references

cites work

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Evidence for physical association of mitochondrial fatty acid oxidation and oxidative phosphorylation complexes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

A mitochondrial protein compendium elucidates complex I disease biology

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Subacute necrotizing encephalomyelopathy in an infant

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Friedreich ataxia: an overview

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Cytochrome c oxidase deficiency

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Respiratory chain complex I deficiency

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Mitochondrial metabolite transport

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Diseases caused by defects of mitochondrial carriers: a review

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Mitochondrial disorders in the nervous system

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Mitochondrial respiratory-chain diseases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Monogenic 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=3625393

Is the ketogenic diet effective in specific epilepsy 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=3625393

Cognitive dysfunction 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=3625393

Lack of the mitochondrial protein acylglycerol kinase causes Sengers 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=3625393

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=3625393

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Primary and secondary CoQ(10) deficiencies in humans

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Adult Leigh disease without failure to thrive.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Infantile-onset disorders of mitochondrial replication and protein synthesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain 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=3625393

Exome sequencing identifies ACAD9 mutations as a cause of complex I 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=3625393

Autonomic dysfunction presenting as orthostatic intolerance in patients suffering from mitochondrial cytopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

The neurologic manifestations of mitochondrial 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=3625393

The mitochondrial proteome and human 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=3625393

Neuroimaging of stroke-like episodes in MELAS.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion 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=3625393

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=3625393

Ophthalmological findings in children and young adults with genetically verified mitochondrial 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=3625393

Current molecular diagnostic algorithm for 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=3625393

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=3625393

28 September 2017

Mitochondrial ataxias.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

OPA1-associated disorders: phenotypes and pathophysiology.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Ketogenic diet in Alpers-Huttenlocher 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=3625393

Pathogenic mutations of nuclear genes associated with 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=3625393

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=3625393

Leigh and Leigh-like syndrome in children and adults

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation 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=3625393

Cognitive decline as a manifestation of mitochondrial disorders (mitochondrial dementia).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

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=3625393

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Histiocytoid cardiomyopathy: a mitochondrial disorder

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

The in-depth evaluation of suspected mitochondrial 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=3625393

Mitochondrial disease: a practical approach for primary care physicians.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Inherited mitochondrial diseases of DNA replication

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Differential diagnosis of cerebellar atrophy in childhood

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Cardiac manifestations in oxidative phosphorylation disorders of childhood

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Missense mutations in the BCS1L gene as a cause of the Björnstad 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=3625393

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) 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=3625393

Autosomal disorders of mitochondrial DNA maintenance.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Pediatric autonomic 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=3625393

Mitochondrial DNA and 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=3625393

Disorders of nuclear-mitochondrial intergenomic signaling

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Mitochondrial encephalomyopathies: an update

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic 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=3625393

Biochemical and molecular diagnosis of mitochondrial respiratory chain 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=3625393

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) 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=3625393

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial 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=3625393

Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Mitochondrial disorders: prevalence, myths and advances.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

DNA polymerase gamma, the mitochondrial replicase

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Coenzyme Q-responsive Leigh's encephalopathy in two sisters

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

MR findings in Leigh syndrome with COX deficiency and SURF-1 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=3625393

Fatty acid oxidation 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=3625393

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 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=3625393

Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase 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=3625393

Seminars in medicine of the Beth Israel Hospital, Boston. Mitochondrial DNA and 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=3625393

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=3625393

NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Clinical presentation of mitochondrial disorders in childhood.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

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=3625393

The Clinical and Biochemical Implications of Pyruvate Carboxylase Deficiency

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625393

Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

31 May 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

Mitochondria1 encephalomyopathy with decreased succinate-cytochrome c reductase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

Single muscle fibre analyses in 2 brothers with succinate dehydrogenase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

Clinical manifestations of mitochondrial DNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

Molecular diagnosis of Alpers syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

MELAS associated with mutations in the POLG1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

Basal Ganglia calcification in mitochondrial disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

Mechanisms of unexpected death and autopsy findings in Leigh syndrome (subacute necrotising encephalomyelopathy).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

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%2FS13311-013-0185-6

Mitochondrial disorders, cognitive impairment and dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

Metabolic testing in the pediatric epilepsy unit

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

Epileptic phenotypes in children with respiratory chain disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

Dilation of the aortic root in mitochondrial disease patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

The retinal manifestations of mitochondrial myopathy. A study of 22 cases

21 January 2018

1 reference

12 December 2020

Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect

1 reference

12 December 2020

The kidney in mitochondrial cytopathies

1 reference

12 December 2020

Cytochrome oxidase deficiency presenting as birth asphyxia

1 reference

12 December 2020

Patient homozygous for a recessive POLG mutation presents with features of MERRF

1 reference

12 December 2020

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

1 reference

12 December 2020

Compromised fatty acid oxidation in mitochondrial disorders

1 reference

12 December 2020

Oxidative phosphorylation disease diagnosis

1 reference

12 December 2020

Partial deficiency of cytochrome c oxidase with isolated proximal renal tubular acidosis and hypercalciuria

1 reference

12 December 2020

Renal pathology in children with mitochondrial diseases

1 reference

12 December 2020

POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion

1 reference

12 December 2020

Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects

1 reference

12 December 2020

Psychological response and survival in breast cancer

1 reference

https://api.crossref.org/works/10.1007%2FS13311-013-0185-6

7 January 2021