A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.

Por Ferlini, A, Galié, N, Merlini, L, Sewry, C, Branzi, A, Muntoni, F
Publicado em 1998

Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion

Por Gualandi, F, Trabanelli, C, Rimessi, P, Calzolari, E, Toffolatti, L, Patarnello, T, Kunz, G, Muntoni, F, Ferlini, A
Publicado em 2003

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

Por Tupler, R, Barbierato, L, Memmi, M, Sewry, C A, De Grandis, D, Maraschio, P, Tiepolo, L, Ferlini, A
Publicado em 1998

Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages.

Por Romeo, G, Menozzi, P, Ferlini, A, Fadda, S, Di Donato, S, Uziel, G, Lucci, B, Capodaglio, L, Filla, A, Campanella, G
Publicado em 1983

Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy

Por Vattemi, G., Neri, M., Piffer, S., Vicart, P., Gualandi, F., Marini, M., Guglielmi, V., Filosto, M., Tonin, P., Ferlini, A., Tomelleri, G.
Publicado em 2011

Rett syndrome: a wide clinical and autonomic picture

Por Pini, G., Bigoni, S., Congiu, L., Romanelli, A. M., Scusa, M. F., Di Marco, P., Benincasa, A., Morescalchi, P., Ferlini, A., Bianchi, F., Tropea, D., Zappella, M.
Publicado no Orphanet J Rare Dis (2016)

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies

Por Tagliavini, F., Pellegrini, C., Sardone, F., Squarzoni, S., Paulsson, M., Wagener, R., Gualandi, F., Trabanelli, C., Ferlini, A., Merlini, L., Santi, S., Maraldi, N.M., Faldini, C., Sabatelli, P.
Publicado no Biochim Biophys Acta (2014)

Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.

Por Naom, I S, D'Alessandro, M, Topaloglu, H, Sewry, C, Ferlini, A, Helbling-Leclerc, A, Guicheney, P, Weissenbach, J, Schwartz, K, Bushby, K, Philpot, J, Dubowitz, V, Muntoni, F
Publicado em 1997

Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy

Por Muntoni, F., Di, L, Porcu, M., Sinagra, G., Mateddu, A., Marrosu, G., Ferlini, A., Cau, M., Milasin, J., Melis, M. A., Marrosu, M. G., Cianchetti, C., Sanna, A., Falaschi, A., Camerini, F., Giacca, M., Mestroni, L.
Publicado em 1997

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Por De Gregori, M, Ciccone, R, Magini, P, Pramparo, T, Gimelli, S, Messa, J, Novara, F, Vetro, A, Rossi, E, Maraschio, P, Bonaglia, M C, Anichini, C, Ferrero, G B, Silengo, M, Fazzi, E, Zatterale, A, Fischetto, R, Previderé, C, Belli, S, Turci, A, Calabrese, G, Bernardi, F, Meneghelli, E, Riegel, M, Rocchi, M, SGuerneri, Lalatta, F, Zelante, L, Romano, C, Fichera, Ma, Mattina, T, Arrigo, G, Zollino, M, Giglio, S, Lonardo, F, Bonfante, A, Ferlini, A, Cifuentes, F, Van Esch, H, Backx, L, Schinzel, A, Vermeesch, J R, Zuffardi, O
Publicado em 2007