(Q37716670)

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Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder

scientific article published on 26 June 2016

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scholarly article

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22 August 2017

Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder (English)

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22 August 2017

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9 June 2020

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9 June 2020

12

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9 June 2020

Hakon Hakonarson

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Hakon Hakonarson

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9 June 2020

author name string

Michael Nafisinia

1

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9 June 2020

Yiran Guo

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9 June 2020

Xiao Dang

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9 June 2020

Jiankang Li

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9 June 2020

Yulan Chen

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9 June 2020

Jianguo Zhang

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9 June 2020

Wendy A Gold

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9 June 2020

Lisa G Riley

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9 June 2020

Brendan Keating

11

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9 June 2020

John Christodoulou

14

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9 June 2020

publication date

26 June 2016

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22 August 2017

Journal of Inherited Metabolic Disorders Reports

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9 June 2020

32

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9 June 2020

117-124

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9 June 2020

describes a project that uses

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11 June 2022

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based on heuristic

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Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4fky/fky mouse.

1 reference

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23 August 2017

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

1 reference

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Mitochondrial abnormalities in temporal lobe of autistic brain

1 reference

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23 August 2017

Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene

1 reference

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23 August 2017

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

1 reference

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23 August 2017

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

1 reference

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23 August 2017

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

1 reference

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23 August 2017

Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency

1 reference

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23 August 2017

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

1 reference

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23 August 2017

Leigh syndrome: One disorder, more than 75 monogenic causes

1 reference

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6 September 2017

Understanding mitochondrial complex I assembly in health and disease

1 reference

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Biochemical analyses of the electron transport chain complexes by spectrophotometry.

1 reference

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Mutations in mitochondrial complex III uniquely affect complex I in Caenorhabditis elegans

1 reference

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28 September 2017

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

1 reference

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23 June 2018

Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using polarography and spectrophotometric enzyme assays

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Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases.

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23 June 2018

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1 reference

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Respiratory chain enzyme analysis in muscle and liver.

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1 September 2018

Polarographic evaluation of mitochondrial enzymes activity in isolated mitochondria and in permeabilized human muscle cells with inherited mitochondrial defects

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Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

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Leigh syndrome: clinical features and biochemical and DNA abnormalities.

1 reference

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1 September 2018

Identifiers

10.1007/8904_2016_541

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27344648%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

PMC publication ID

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Europe PubMed Central

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9 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

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9 June 2020

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