Fernando M.S. Tomé

Storage of phosphorylated desmin in a familial myopathy

C. Delcayre, M. Fardeau, F. Tomé, 1988, FEBS letters.

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.

J. Beckmann, K. Campbell, A. Toutain, 1996, Human molecular genetics.

Intranuclear and cytoplasmic filamentous inclusions in distal myopathy (Welander)

L. Edström, K. Borg, F. Tomé, 2004, Acta Neuropathologica.

Inclusion body myositis.

M. Chevallay, M. Fardeau, F. Tomé, 1981, Acta neuropathologica. Supplementum.

Distinct contractile protein profile in congenital myotonic dystrophy and X-linked myotubular myopathy

G. Butler-Browne, C. Laurent‐Winter, M. Chevallay, 1991, Neuromuscular Disorders.

Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.

C. Philippe, M. Fardeau, F. Tomé, 1994, American journal of medical genetics.

Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.

J. Weissenbach, C. Cruaud, M. Nissinen, 1996, American journal of human genetics.