Jacques S. Beckmann

发表

Dysferlin is a plasma membrane protein and is expressed early in human development.

K. Bushby, M. Johnson, F. Fougerousse, 1999, Human molecular genetics.

Secondary calpain3 deficiency in 2q-linked muscular dystrophy

L. Peltonen, I. Richard, T. Voit, 2001, Neurology.

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

N. Bourg, R. Barohn, D. McKenna-Yasek, 2001, Neurology.

Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large basque pedigree linked to chromosome 10q

J. Prud'homme, A. López de Munain, D. Grid, 1999, Annals of neurology.

Molecular adaptations of neuromuscular disease‐associated proteins in response to eccentric exercise in human skeletal muscle

C. Denis, I. Richard, D. Freyssenet, 2002, The Journal of physiology.

The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12–14, 2002

J. Beckmann, K. Bushby, Jacques S. Beckmann, 2003, Neuromuscular Disorders.

Disease taxonomy--monogenic muscular dystrophy.

J. Beckmann, Jacques S. Beckmann, 1999, British medical bulletin.

Calpainopathy-a survey of mutations and polymorphisms.

J. Beckmann, K. Bushby, I. Richard, 1999, American journal of human genetics.

Genetic studies and molecular structures: the dystrophin associated complex.

J. Beckmann, Jacques S. Beckmann, 1996, Human molecular genetics.