The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. (Q37604514)

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scientific article published on 13 July 2016

The clinical, biochemical and genetic features associated with -related mitochondrial disease

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English	The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.	scientific article published on 13 July 2016	The clinical, biochemical and genetic features associated with -related mitochondrial disease

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18 March 2020

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease (English)

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18 March 2020

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Charlotte L Alston

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Andrew A Morris

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Anne Marie Clare Kelly

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Stanislav Kmoch

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Josef Houštěk

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Alireza Haghighi

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Montserrat Anton Gamero

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Elena Garcia-Martinez

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Hana Kratochvílová

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Ruth M Brown

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Garry K Brown

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Jillian P Casey

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Arif Khan

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Karl McKeever

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Elsebet Østergaard

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Amy Goldstein

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13 July 2016

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Journal of Medical Genetics

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768-775

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18 March 2020

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264221

23 August 2017

Spectrum of combined respiratory chain defects

1 reference

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23 August 2017

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264221

23 August 2017

Targeted exome sequencing of suspected mitochondrial disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264221

23 August 2017

Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264221

23 August 2017

An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264221

23 August 2017

Heterogeneity of coenzyme Q10 deficiency: patient study and literature review

1 reference

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23 August 2017

Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264221

23 August 2017

Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis

1 reference

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23 August 2017

The diagnosis of mitochondrial muscle disease.

1 reference

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23 August 2017

Mitochondrial dysfunction in the pathophysiology of renal diseases

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6 September 2017

Neuroimaging of pediatric intracranial infection--part 2: TORCH, viral, fungal, and parasitic infections

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6 September 2017

Hearing impairment and renal failure associated with RMND1 mutations.

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1 September 2018

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

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Identifiers

10.1136/JMEDGENET-2016-103910

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18 March 2020

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18 March 2020

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18 March 2020

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