(Q28214123)

14 April 2017

3

Massimo Zeviani

1 reference

14 April 2017

author name string

M O Péquignot

1

0 references

R Dey

2

0 references

M Zeviani

3

0 references

V Tiranti

4

0 references

C Godinot

5

0 references

A Poyau

6

0 references

C Sue

7

0 references

S Di Mauro

8

0 references

M Abitbol

9

0 references

C Marsac

10

0 references

Marie O. Péquignot

1

1 reference

14 April 2017

Runu Dey

2

1 reference

14 April 2017

Valeria Tiranti

4

1 reference

14 April 2017

Catherine Godinot

5

1 reference

14 April 2017

Alain Poyau

6

1 reference

14 April 2017

Caroline Sue

7

1 reference

14 April 2017

Salvatore Di Mauro

8

1 reference

14 April 2017

Marc Abitbol

9

1 reference

14 April 2017

Cécile Marsac

10

1 reference

14 April 2017

language of work or name

English

0 references

publication date

May 2001

0 references

16 April 2001

1 reference

14 April 2017

1 reference

14 April 2017

volume

17

1 reference

14 April 2017

issue

5

1 reference

14 April 2017

page(s)

374-81

0 references

374-381

1 reference

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

14 April 2017

cites work

1 reference

SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.

21 January 2018

1 reference

Conservation of the organization of five tightly clustered genes over 600 million years of divergent evolution

21 January 2018

1 reference

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

21 January 2018

1 reference

21 January 2018

The human Surfeit locus

1 reference

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

The mouse surfeit locus contains a cluster of six genes associated with four CpG-rich islands in 32 kilobases of genomic DNA.

21 January 2018

1 reference

Subacute necrotizing encephalomyelopathy in an infant

21 January 2018

1 reference

SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration

21 January 2018

1 reference

Deficiency of respiratory chain complex I is a common cause of Leigh disease.

21 January 2018

1 reference

Assembly of cytochrome-c oxidase in cultured human cells

21 January 2018

1 reference

New splicing-site mutations in the SURF1 gene in Leigh syndrome patients

21 January 2018

1 reference

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

21 January 2018

1 reference

Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency

21 January 2018

1 reference

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

21 January 2018

1 reference

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.

21 January 2018

1 reference

Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature

21 January 2018

1 reference

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

21 January 2018

1 reference

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

21 January 2018

1 reference

The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human

21 January 2018

1 reference

7 January 2021

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

1 reference

7 January 2021

Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2

1 reference

7 January 2021

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency

1 reference

7 January 2021

Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain

1 reference

7 January 2021