(Q61797907)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30634555%20AND%20SRC:MED&resulttype=core&format=json

18 April 2020

title

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30634555%20AND%20SRC:MED&resulttype=core&format=json

18 April 2020

1 reference

mitochondrial disease

1 reference

inferred from title

author

Darío Ortigoza-Escobar

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30634555%20AND%20SRC:MED&resulttype=core&format=json

18 April 2020

Francesc Palau

12

1 reference

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18 April 2020

Laura Gort Mas

14

1 reference

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18 April 2020

Frederic Tort

15

1 reference

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Cecilia Jimenez-Mallebrera

18 April 2020

22

1 reference

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18 April 2020

Rafael Artuch

26

1 reference

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18 April 2020

author name string

Cristina Jou

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30634555%20AND%20SRC:MED&resulttype=core&format=json

18 April 2020

Maria M O'Callaghan

3

1 reference

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18 April 2020

Andres Nascimento

4

1 reference

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18 April 2020

Alejandra Darling

5

1 reference

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18 April 2020

Leticia Pias-Peleteiro

6

1 reference

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18 April 2020

Belén Perez-Dueñas

7

1 reference

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18 April 2020

Mercedes Pineda

8

1 reference

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18 April 2020

Anna Codina

9

1 reference

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18 April 2020

César Arjona

10

1 reference

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18 April 2020

Judith Armstrong

11

1 reference

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18 April 2020

Antonia Ribes

13

1 reference

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18 April 2020

Placido Navas

16

1 reference

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18 April 2020

Eduardo Ruiz-Pesini

17

1 reference

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18 April 2020

Sonia Emperador

18

1 reference

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18 April 2020

Ester Lopez-Gallardo

19

1 reference

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18 April 2020

Pilar Bayona-Bafaluy

20

1 reference

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18 April 2020

Raquel Montero

21

1 reference

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18 April 2020

Angels Garcia-Cazorla

23

1 reference

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18 April 2020

Julio Montoya

24

1 reference

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18 April 2020

Delia Yubero

25

1 reference

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18 April 2020

language of work or name

English

0 references

publication date

10 January 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30634555%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Medicine

18 April 2020

published in

1 reference

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18 April 2020

volume

8

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18 April 2020

issue

1

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Creative Commons Attribution 4.0 International

18 April 2020

page(s)

68

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copyright license

start time

10 January 2019

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Mitochondrial disease criteria: Diagnostic applications in children

1 reference

12 December 2020

Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

1 reference

12 December 2020

Neonatal muscular manifestations in mitochondrial disorders

1 reference

12 December 2020

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.

1 reference

12 December 2020

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

1 reference

12 December 2020

Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum

1 reference

12 December 2020

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

1 reference

12 December 2020

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.

1 reference

12 December 2020

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects

1 reference

12 December 2020

Mitochondrial disease in childhood: nuclear encoded

1 reference

12 December 2020

Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity

1 reference

12 December 2020

Mitochondrial respiratory chain disorders in childhood: insights into diagnosis and management in the new era of genomic medicine.

1 reference

12 December 2020

Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification

1 reference

12 December 2020

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

1 reference

12 December 2020

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

1 reference

12 December 2020

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

1 reference

12 December 2020

Mutation loads in different tissues from six pathogenic mtDNA point mutations.

1 reference

12 December 2020

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

1 reference

12 December 2020

Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content

1 reference

12 December 2020

Mutations causing mitochondrial disease: What is new and what challenges remain?

1 reference

12 December 2020

A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.

1 reference

12 December 2020

Comprehensive Mitochondrial Genome Analysis by Massively Parallel Sequencing

1 reference

12 December 2020

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

1 reference

12 December 2020

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

1 reference

12 December 2020

1 reference

12 December 2020

Treatment of genetic defects of thiamine transport and metabolism

1 reference

12 December 2020

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

1 reference

12 December 2020

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

1 reference

12 December 2020

The genetics and pathology of mitochondrial disease.

1 reference

12 December 2020

Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders.

1 reference

12 December 2020

Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein.

1 reference

12 December 2020

Myopathology of Adult and Paediatric Mitochondrial Diseases

1 reference

12 December 2020

Mitochondrial energy generation disorders: genes, mechanisms and clues to pathology.

1 reference

12 December 2020

Revisiting mitochondrial diagnostic criteria in the new era of genomics.

1 reference

12 December 2020

Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.

1 reference

12 December 2020

Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

1 reference

12 December 2020

mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

1 reference

12 December 2020

Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method

1 reference

12 December 2020

Identifiers

DOI

10.3390/JCM8010068

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30634555%20AND%20SRC:MED&resulttype=core&format=json

18 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30634555%20AND%20SRC:MED&resulttype=core&format=json

18 April 2020

1 reference