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Genotype-phenotype correlations in recessive titinopathies.
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. Savarese M, et al. Among authors: mercuri e. Genet Med. 2020 Dec;22(12):2029-2040. doi: 10.1038/s41436-020-0914-2. Epub 2020 Aug 11. Genet Med. 2020. PMID: 32778822 Free article.
An unusual case of hyperekplexia.
Jungbluth H, Rees MI, Manzur AY, Mercuri E, Sewry CA, Gobbi P, Muntoni F. Jungbluth H, et al. Among authors: mercuri e. Eur J Paediatr Neurol. 2000;4(2):77-80. doi: 10.1053/ejpn.1999.0267. Eur J Paediatr Neurol. 2000. PMID: 10817489
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. Among authors: mercuri e. Neuromuscul Disord. 2000 Dec;10(8):541-7. doi: 10.1016/s0960-8966(00)00139-5. Neuromuscul Disord. 2000. PMID: 11053679
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F. Brockington M, et al. Among authors: mercuri e. Am J Hum Genet. 2001 Dec;69(6):1198-209. doi: 10.1086/324412. Epub 2001 Oct 8. Am J Hum Genet. 2001. PMID: 11592034 Free PMC article.
659 results