A. Caño

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype

Cécile Rouzier, Sylvie Bannwarth, Annabelle Chaussenot et al. · Brain · 2011 · 238 citations · Full text

Life Sciences, Molecular Genetics, Neurology +17

Identification of novel mutations in <i>WFS1</i> and genotype–phenotype correlation in Wolfram syndrome

A. Caño, Cécile Rouzier, Sophie Monnot et al. · American Journal of Medical Genetics Part A · 2007 · 77 citations

Life Sciences, Genetics, Molecular Genetics +15

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency

Audrey Boutron, Cécile Acquaviva, Christine Vianey‐Saban et al. · Molecular Genetics and Metabolism · 2011 · 50 citations

Life Sciences, Genetics, Molecular Biology +14

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment

Femke Molema, Florian Gleich, Peter Burgard et al. · Molecular Genetics and Metabolism · 2019 · 33 citations · Full text

Medicine, Nephrology, Pediatrics +16

Clinical phenotype associated with TANGO2 gene mutation

Célia Hoebeke, A. Caño, Pascale de Lonlay et al. · Archives de Pédiatrie · 2020 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9