C. Saquet

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies

F. Rivier, M. Claustres, S. Malcolm, 2005, European Journal of Human Genetics.

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

A. Destée, F. Rousset, Y. Agid, 2008, Neurogenetics.

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy

M. Claustres, S. Tuffery-Giraud, C. Saquet, 2003, Human mutation.

Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities.

C. Junien, F. Radvanyi, G. Gourdon, 1998, Human molecular genetics.

Genotype–phenotype correlation in von Hippel‐Lindau families with renal lesions

C. Junien, S. Richard, C. Béroud, 2004, Human mutation.

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre

F. Rivier, B. Echenne, M. Cossée, 2004, Neuromuscular Disorders.

First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population

M. Claustres, M. Frédéric, E. Lucarz, 2007, Movement disorders : official journal of the Movement Disorder Society.