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A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.
Guglielmi V, Pancheri E, Cannone E, Nigro V, Malatesta M, Vettori A, Giorgetti A, Torella A, Aurino S, Cisterna B, Marchetto G, Tomelleri G, Tonin P, Schiavone M, Vattemi G. Guglielmi V, et al. Among authors: vattemi g. Clin Genet. 2023 Dec;104(6):705-710. doi: 10.1111/cge.14413. Epub 2023 Aug 8. Clin Genet. 2023. PMID: 37553249
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy.
Bettio C, Banchelli F, Salsi V, Vicini R, Crisafulli O, Ruggiero L, Ricci G, Bucci E, Angelini C, Berardinelli A, Bonanno S, D'Angelo MG, Di Muzio A, Filosto M, Frezza E, Maggi L, Mongini T, Pegoraro E, Rodolico C, Scarlato M, Vattemi G, Velardo D, Tomelleri G, D'Amico R, D'Antona G, Tupler R. Bettio C, et al. Among authors: vattemi g. BMC Musculoskelet Disord. 2024 Jan 5;25(1):35. doi: 10.1186/s12891-023-07150-x. BMC Musculoskelet Disord. 2024. PMID: 38183077 Free PMC article.
Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.
Cannone E, Guglielmi V, Marchetto G, Tobia C, Gnutti B, Cisterna B, Tonin P, Barbon A, Vattemi G, Schiavone M. Cannone E, et al. Among authors: vattemi g. Int J Mol Sci. 2023 Jul 14;24(14):11483. doi: 10.3390/ijms241411483. Int J Mol Sci. 2023. PMID: 37511242 Free PMC article.
BACE1 and BACE2 in pathologic and normal human muscle.
Vattemi G, Engel WK, McFerrin J, Pastorino L, Buxbaum JD, Askanas V. Vattemi G, et al. Exp Neurol. 2003 Feb;179(2):150-8. doi: 10.1016/s0014-4886(02)00025-0. Exp Neurol. 2003. PMID: 12618121
88 results