author-photo

Sophie Lebon

Necker-Enfants Malades Hospital

11

Papers

829

Citations

Citation Trend

Filter By

Papers (10) Sort By

Journal Conference Others

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome

2007 Molecular Genetics and Metabolism
Show All
- Source
- Cite
- Save
Citations (39)
A Novel Recurrent Mitochondrial DNA Mutation in ND3 Gene Is Associated With Isolated Complex I Deficiency Causing Leigh Syndrome and Dystonia

2007 American Journal of Medical Genetics Part A
Show All
- Source
- Cite
- Save
Citations (86)
A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome

2007 Molecular Genetics and Metabolism
Show All
- Source
- Cite
- Save
Citations (36)
Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR

2005 Molecular Genetics and Metabolism
Show All
- Source
- Cite
- Save
Citations (27)
Molecular diagnostics of mitochondrial disorders

2004 Biochimica et Biophysica Acta
Show All
- Source
- Cite
- Save
Citations (40)
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

2004 Journal of Medical Genetics
Show All
- Source
- Cite
- Save
Citations (156)
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

2003 Journal of Medical Genetics
Show All
- Source
- Cite
- Save
Citations (105)
Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts

2003 Biochemical and Biophysical Research Communications
Show All
- Source
- Cite
- Save
Citations (52)
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis.

2003 Human Genetics
Show All
- Source
- Cite
- Save
Citations (116)
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency

2003 Journal of Medical Genetics
Show All
- Source
- Cite
- Save
Citations (121)