(Q46939834)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17950645%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency (English)

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9 January 2020

1

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9 January 2020

Marlene Rio

4

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9 January 2020

Agnès Rötig

13

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9 January 2020

author name string

Romano S

2

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9 January 2020

Funalot B

3

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9 January 2020

Sarzi E

5

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9 January 2020

Lebre AS

6

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9 January 2020

Bahi-Buisson N

7

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9 January 2020

Valayannopoulos V

8

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9 January 2020

Desguerre I

9

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9 January 2020

Seidenwurm D

10

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9 January 2020

Brunelle F

11

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9 January 2020

Brami-Zylberberg F

12

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9 January 2020

de Lonlay P

15

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9 January 2020

Munnich A

14

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9 January 2020

publication date

22 October 2007

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Molecular Genetics and Metabolism

9 January 2020

published in

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9 January 2020

volume

93

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9 January 2020

issue

1

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9 January 2020

page(s)

85-88

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Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

9 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.003

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.003

The wide spectrum of spinocerebellar ataxias (SCAs)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.003

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.003

Molecular diagnostics of mitochondrial disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.003

7 January 2021

Mitochondrial disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.003

High-resolution proton magnetic resonance spectra of sperm whale cyanometmyoglobin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.003

Brain MRI and proton MRS findings in infants and children with respiratory chain defects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.003

Central nervous system manifestations of mitochondrial disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.003

Proton magnetic resonance spectroscopy to study the metabolic changes in the brain of a patient with Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.003

10.1016/J.YMGME.2007.09.003

7 January 2021

Identifiers

DOI

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9 January 2020

1 reference