(Q34986889)

5 August 2017

0 references

A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome (English)

1 reference

5 August 2017

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24034276%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Miguel Angel Martín

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24034276%20AND%20SRC:MED&resulttype=core&format=json

Francisco Martínez-Azorín

13 June 2020

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24034276%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

author name string

Henry Rivera

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24034276%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Elena Martín-Hernández

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24034276%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Aitor Delmiro

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24034276%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

María Teresa García-Silva

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24034276%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Pilar Quijada-Fraile

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24034276%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Rafael Muley

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24034276%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

language of work or name

1 reference

13 September 2013

1 reference

5 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24034276%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24034276%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

195

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24034276%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1186/1471-2369-14-195

13 June 2020

exact match

0 references

cites work

Mitochondrial aminoacyl-tRNA synthetases in human disease

1 reference

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Mitochondrial tRNA(Phe) mutation as a cause of end-stage renal disease in childhood

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3847196

Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome

8 July 2018

1 reference

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Recent advances in the genetics of mitochondrial encephalopathies

8 July 2018

1 reference

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A method and server for predicting damaging missense mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3847196

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

8 July 2018

1 reference

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

8 July 2018

1 reference

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Dual-mode recognition of noncanonical tRNAs(Ser) by seryl-tRNA synthetase in mammalian mitochondria

8 July 2018

1 reference

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Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

8 July 2018

1 reference

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UCSF Chimera--a visualization system for exploratory research and analysis

8 July 2018

1 reference

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Characterization and tRNA recognition of mammalian mitochondrial seryl-tRNA synthetase

8 July 2018

1 reference

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Biogenesis of mitochondria

8 July 2018

1 reference

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Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

8 July 2018

1 reference

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Mitochondrial disease--an important cause of end-stage renal failure

21 January 2018

1 reference

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Thyroid hormone regulates oxidative phosphorylation in the cerebral cortex and striatum of neonatal rats.

21 January 2018

1 reference

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Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis

21 January 2018

1 reference

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Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.

21 January 2018

1 reference

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Lactate production in isolated segments of the rat nephron

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24034276

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Renal pathology in children with mitochondrial diseases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24034276

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2369-14-195

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24034276%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

13 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24034276%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24034276%20AND%20SRC:MED&resulttype=core&format=json