Sylvie Padet

发表

Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.

D. Bozon, J. Taanman, B. Mousson de Camaret, 2007, The Biochemical journal.

POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

F. Rivier, D. Bozon, V. des Portes, 2011, Mitochondrion.

Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy

S. Nataf, D. Bozon, A. Echaniz-Laguna, 2011, Journal of Medical Genetics.

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

M. Zeviani, D. Bozon, A. Echaniz-Laguna, 2013, Neurology.