Myology Group


University Pierre et
Marie Curie Paris VI
UMR S 787 - UPMC Paris VI
105 bd de l'Hôpital 75634,
Paris Cedex 13

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Publications-Ferreiro

1. A Fukuzawa, S Lange, M Holt, A Vihola, V Carmignac, A Ferreiro, B Udd, and M Gautel. Interactions with titin and myomesin target obscurin and obscurin-like 1 to the sarcomeric M-band: implications for hereditary myopathies. J Cell Sci 2008;121:1841-51.

2. Carmignac V, Salih MAM, Quijano-Roy S, Marchand S, Al Rayess MM, Mukhtar MM, Urtizberea JA, Labeit S, Guicheney P, Leturcq F, Gautel M , Fardeau M, Campbell KP, Richard I, Estournet B, Ferreiro A. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol 2007; 61(4):340-51.

3. Herasse M, Parain K, Marty I, Monnier N, Kaindl A M, Leroy J P, Richard P, Lunardi J, Romero N B, Ferreiro A. Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies. J Neuropath Exp Neur 2007; 66(1):57-65.

4. A Ferreiro, C Ceuterick – de Groote, J Mark, et al (2004). Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the Selenoprotein N gene. Ann Neurol; 55(5):676-686.

5. N Monnier, A Ferreiro, I Marty, A Labarre-Vila, P Mezin, J Lunardi (2003). A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia. Hum Mol Genet; 12(10):1171-1178.

6. A. Ferreiro, S. Quijano-Roy, C. Pichereau, et al (2002). Mutations of the selenoprotein Page 21 N gene, implicated in Rigid Spine muscular dystrophy, cause the classical phenotype of Multi-minicore Disease. Reassessing the nosology of early-onset myopathies. Am J Hum Genet; 71(4):739-49.

7. A. Ferreiro, N. Monnier, N.B. Romero, et al (2002). A recessive form of Central Core Disease, transiently presenting as Multi-minicore Disease, is associated with a homozygous mutation in the RYR1 gene. Ann Neurol, 51(6):750-759.