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Page 1
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bönnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, Richard P, Fardeau M, Guicheney P. Ferreiro A, et al. Among authors: villanova m. Am J Hum Genet. 2002 Oct;71(4):739-49. doi: 10.1086/342719. Epub 2002 Aug 21. Am J Hum Genet. 2002. PMID: 12192640 Free PMC article.
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.
Villanova M, Mercuri E, Bertini E, Sabatelli P, Morandi L, Mora M, Sewry C, Brockington M, Brown SC, Ferreiro A, Maraldi NM, Toda T, Guicheney P, Merlini L, Muntoni F. Villanova M, et al. Neuromuscul Disord. 2000 Dec;10(8):541-7. doi: 10.1016/s0960-8966(00)00139-5. Neuromuscul Disord. 2000. PMID: 11053679
A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency.
Perrin A, Metay C, Villanova M, Carlier RY, Pegoraro E, Juntas Morales R, Stojkovic T, Richard I, Richard P, Romero NB, Granzier H, Koenig M, Malfatti E, Cossée M. Perrin A, et al. Among authors: villanova m. Ann Clin Transl Neurol. 2020 May;7(5):846-854. doi: 10.1002/acn3.51031. Epub 2020 Apr 19. Ann Clin Transl Neurol. 2020. PMID: 32307885 Free PMC article.
144 results