Sfoglia per Autore
Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: A new syndrome
file con accesso da definire1995 Ferlini, Alessandra; Ragno, M; Gobbi, P; Marinucci, C; Rossi, R; Zanetti, A; Milan, M; Camera, G; Calzolari, Elisa
Haplotype analysis of common transthyretin mutations
file con accesso da definire1995 Almeida, Mr; Aoyama Oishi, N; Sakaki, Y; Holmgren, G; Ulf, D; Ferlini, Alessandra; Salvi, F; Munar Oués, M; Benson, Md; Skinner, M.
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders.
file con accesso da definire1995 Ferlini, Alessandra; Patrosso, Mc; Guidetti, D; Merlini, Luciano; Uncini, A; Ragno, M; Plasmati, R; Fini, Sergio; Repetto, M; Vezzoni, P.
An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
file con accesso da definire1995 Ragno, M; Tournier Lasserve, E; Fiori, Mg; Manca, A; Patrosso, Mc; Ferlini, Alessandra; Sirocchi, G; Trojano, L; Chabriat, H; Salvi, F.
Electromyographic findings in transthyretin (TTR)-related familial amyloid polyneuropathy (FAP).
file con accesso da definire1996 Montagna, P; Marchello, L; Plasmati, R; Ferlini, Alessandra; Patrosso, Mc; Salvi, F.
Decreased affinity of apolipoprotein all to high-density lipoprotein in patients with transthyretin-related amyloidosis (Met30, Gln89, Pro36, and Thr34)
file con accesso da definire1996 Nakamura, M; Tanaka, Y; Ando, Y; Yamashita, T; Salvi, F; Ferlini, Alessandra; Gobbi, P; Patrosso, C; Uchino, M; Ando, M.
The protein defect in congenital muscular dystrophy
file con accesso da definire1996 Sewry, Ca; Naom, I; D'Alessandro, M; Ferlini, Alessandra; Philpot, J; Mercuri, E; Dubowitz, V; Muntoni, F.
Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PER heteroduplex analysis of illegitimate transcripts
file con accesso da definire1996 Barbieri, Am; Soriani, N; Ferlini, Alessandra; Michelato, A; Ferrari, M; Carrera, P.
X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family.
file con accesso da definire1996 Guidetti, D; Vescovini, E; Motti, L; Ghidoni, E; Gemignani, F; Marbini, A; Patrosso, Mc; Ferlini, Alessandra; Solime, F.
Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings.
file con accesso da definire1996 Ferlini, Alessandra; Salvi, F; Uncini, A; el Chami, J; Winter, P; Altland, K; Repetto, M; Littardi, M; Campoleoni, A; Vezzoni, P; Patrosso, M. C.
The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy
file con accesso da definire1997 Naom, I; D'Alessandro, M; Sewry, C; Ferlini, Alessandra; Topaloglu, H; Helbling Leclerc, A; Guicheney, P; Schwartz, K; Akcoren, Z; Dubowitz, V; Muntoni, F.
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy
file con accesso da definire1997 Muntoni, F; Di Lenarda, A; Porcu, M; Sinagra, G; Mateddu, A; Marrosu, G; Ferlini, Alessandra; Cau, M; Milasin, J; Melis, Ma; Marrosu, Mg; Cianchetti, C; Sanna, A; Falaschi, A; Camerini, F; Giacca, M; Mestroni, L.
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.
file con accesso da definire1997 Naom, Is; D'Alessandro, M; Topaloglu, H; Sewry, C; Ferlini, Alessandra; Helbling Leclerc, A; Guicheney, P; Weissenbach, J; Schwartz, K; Bushby, K; Philpot, J; Dubowitz, V; Muntoni, F.
Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy
file con accesso da definire1997 Sewry, C. A.; D'Alessandro, M.; Wilson, L. A.; Sorokin, L. M.; Naom, I.; Bruno, S.; Ferlini, Alessandra; Dubowitz, V.; Muntoni, F.
Prenatal diagnosis in merosin-deficient congenital muscular dystrophy
file con accesso da definire1997 Naom, I.; Sewry, C.; D'Alessandro, M.; Topaloglu, H.; Ferlini, Alessandra; Wilson, L.; Dubowitz, V.; Muntoni, F.
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.
file con accesso da definire1998 Tupler, R; Barbierato, L; Memmi, M; Sewry, Ca; DE GRANDIS, D; Maraschio, P; Tiepolo, L; Ferlini, Alessandra
Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis
file con accesso da definire1998 Patrosso, Mc; Salvi, F; DE GRANDIS, D; Vezzoni, P; Jacobson, Dr; Ferlini, Alessandra
The 5' region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFs
file con accesso da definire1998 Ferlini, Alessandra; Muntoni, F.
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy
file con accesso da definire1998 Ferlini, Alessandra; Galie, N; Merlini, L; Sewry, C; Branzi, A; Muntoni, F.
Transthyretin amyloidosis and superficial siderosis of the CNS
file con accesso da definire1999 Mascalchi, M; Salvi, F; Pirini, Mg; D'Errico, A; Ferlini, Alessandra; Lolli, F; Plasmati, R; Tessa, C; Villari, N; Tassinari, Ca
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: A new syndrome | 1995 | Ferlini, Alessandra; Ragno, M; Gobbi, P; Marinucci, C; Rossi, R; Zanetti, A; Milan, M; Camera, G;... Calzolari, Elisa | file con accesso da definire |
| Haplotype analysis of common transthyretin mutations | 1995 | Almeida, Mr; Aoyama Oishi, N; Sakaki, Y; Holmgren, G; Ulf, D; Ferlini, Alessandra; Salvi, F; Muna...r Oués, M; Benson, Md; Skinner, M. | file con accesso da definire |
| Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders. | 1995 | Ferlini, Alessandra; Patrosso, Mc; Guidetti, D; Merlini, Luciano; Uncini, A; Ragno, M; Plasmati, ...R; Fini, Sergio; Repetto, M; Vezzoni, P. | file con accesso da definire |
| An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). | 1995 | Ragno, M; Tournier Lasserve, E; Fiori, Mg; Manca, A; Patrosso, Mc; Ferlini, Alessandra; Sirocchi,... G; Trojano, L; Chabriat, H; Salvi, F. | file con accesso da definire |
| Electromyographic findings in transthyretin (TTR)-related familial amyloid polyneuropathy (FAP). | 1996 | Montagna, P; Marchello, L; Plasmati, R; Ferlini, Alessandra; Patrosso, Mc; Salvi, F. | file con accesso da definire |
| Decreased affinity of apolipoprotein all to high-density lipoprotein in patients with transthyretin-related amyloidosis (Met30, Gln89, Pro36, and Thr34) | 1996 | Nakamura, M; Tanaka, Y; Ando, Y; Yamashita, T; Salvi, F; Ferlini, Alessandra; Gobbi, P; Patrosso,... C; Uchino, M; Ando, M. | file con accesso da definire |
| The protein defect in congenital muscular dystrophy | 1996 | Sewry, Ca; Naom, I; D'Alessandro, M; Ferlini, Alessandra; Philpot, J; Mercuri, E; Dubowitz, V; Mu...ntoni, F. | file con accesso da definire |
| Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PER heteroduplex analysis of illegitimate transcripts | 1996 | Barbieri, Am; Soriani, N; Ferlini, Alessandra; Michelato, A; Ferrari, M; Carrera, P. | file con accesso da definire |
| X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family. | 1996 | Guidetti, D; Vescovini, E; Motti, L; Ghidoni, E; Gemignani, F; Marbini, A; Patrosso, Mc; Ferlini,... Alessandra; Solime, F. | file con accesso da definire |
| Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings. | 1996 | Ferlini, Alessandra; Salvi, F; Uncini, A; el Chami, J; Winter, P; Altland, K; Repetto, M; Littard...i, M; Campoleoni, A; Vezzoni, P; Patrosso, M. C. | file con accesso da definire |
| The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy | 1997 | Naom, I; D'Alessandro, M; Sewry, C; Ferlini, Alessandra; Topaloglu, H; Helbling Leclerc, A; Guich...eney, P; Schwartz, K; Akcoren, Z; Dubowitz, V; Muntoni, F. | file con accesso da definire |
| Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy | 1997 | Muntoni, F; Di Lenarda, A; Porcu, M; Sinagra, G; Mateddu, A; Marrosu, G; Ferlini, Alessandra; Cau..., M; Milasin, J; Melis, Ma; Marrosu, Mg; Cianchetti, C; Sanna, A; Falaschi, A; Camerini, F; Giacca, M; Mestroni, L. | file con accesso da definire |
| Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy. | 1997 | Naom, Is; D'Alessandro, M; Topaloglu, H; Sewry, C; Ferlini, Alessandra; Helbling Leclerc, A; Guic...heney, P; Weissenbach, J; Schwartz, K; Bushby, K; Philpot, J; Dubowitz, V; Muntoni, F. | file con accesso da definire |
| Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy | 1997 | Sewry, C. A.; D'Alessandro, M.; Wilson, L. A.; Sorokin, L. M.; Naom, I.; Bruno, S.; Ferlini, Ales...sandra; Dubowitz, V.; Muntoni, F. | file con accesso da definire |
| Prenatal diagnosis in merosin-deficient congenital muscular dystrophy | 1997 | Naom, I.; Sewry, C.; D'Alessandro, M.; Topaloglu, H.; Ferlini, Alessandra; Wilson, L.; Dubowitz, ...V.; Muntoni, F. | file con accesso da definire |
| Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression. | 1998 | Tupler, R; Barbierato, L; Memmi, M; Sewry, Ca; DE GRANDIS, D; Maraschio, P; Tiepolo, L; Ferlini, ...Alessandra | file con accesso da definire |
| Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis | 1998 | Patrosso, Mc; Salvi, F; DE GRANDIS, D; Vezzoni, P; Jacobson, Dr; Ferlini, Alessandra | file con accesso da definire |
| The 5' region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFs | 1998 | Ferlini, Alessandra; Muntoni, F. | file con accesso da definire |
| A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy | 1998 | Ferlini, Alessandra; Galie, N; Merlini, L; Sewry, C; Branzi, A; Muntoni, F. | file con accesso da definire |
| Transthyretin amyloidosis and superficial siderosis of the CNS | 1999 | Mascalchi, M; Salvi, F; Pirini, Mg; D'Errico, A; Ferlini, Alessandra; Lolli, F; Plasmati, R; Tess...a, C; Villari, N; Tassinari, Ca | file con accesso da definire |
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