D. Thorel

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.

Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene

F. Rivier, M. Claustres, S. Tuffery-Giraud, 2012, European Journal of Human Genetics.

Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?

J. Pouget, M. Claustres, S. Tuffery-Giraud, 2011, Human mutation.

Dissecting the Structure and Mechanism of a Complex Duplication–Triplication Rearrangement in the DMD Gene

M. Claustres, Jian-Min Chen, F. Baudat, 2013, Human mutation.

FUBP1: a new protagonist in splicing regulation of the DMD gene

K. Mamchaoui, M. Claustres, V. Mouly, 2015, Nucleic acids research.

Characterisation of a large complex intragenic re‐arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiency

M. Claustres, J. Schved, M. Romey, 2007, British journal of haematology.

New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?

M. Barat‐Houari, F. Vasseur, J. Pouget, 2010, European Journal of Human Genetics.

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.