Sfoglia per Autore
Le Distrofie Muscolari dei Cingoli nel Sud-Italia: aspetti clinici, epidemiologici e genetici
2008 Passamano, L; Ventriglia, Vm; Palladino, A; Aurino, S; Petretta, Vr; Damico, F; Paciello, O; Saccone, V; Piluso, Giulio; Papparella, S; Nigro, Vincenzo; Politano, Luisa
Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations
2008 Trimarco, A.; Torella, A.; Piluso, Giulio; Ventriglia, V. M.; Politano, Luisa; Nigro, Vincenzo
LGMD2H patients of non Hutterite origin with mutations in TRIM32 gene
2008 Saccone, V; Scutifero, M; Palladino, A; DI GREGORIO, Mg; Ventriglia, Vm; Piluso, Giulio; CANKI KLAIN, N; Nigro, Vincenzo; Politano, Luisa
Dysferlinopathies in Southern Italy
2008 Palladino, A; Aurino, S; Cecio, Mr; Piluso, Giulio; Passamano, L; Nigro, Vincenzo; Politano, Luisa
Candidate-gene testing for orphan limb-girdle muscular dystrophies
2008 Aurino, S; Piluso, Giulio; Saccone, V; Cacciottolo, M; D'Amico, F; Dionisi, M; Totaro, A; Belsito, Angela; DI VICINO, U; Nigro, Vincenzo
Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H
2008 Saccone, V.; Palmieri, M.; Passamano, L.; Piluso, Giulio; Meroni, G.; Politano, Luisa; Nigro, Vincenzo
G.P.10.11 T-CAP, the gene responsible for LGMD2G, may interact with dysferlin
2008 Cacciottolo, M.; Saccone, V.; Numitone, G.; Piluso, G.; Aurino, S.; Nigro, V.
Lack of replication of genetic associations with human longevity
2008 Novelli, V; VIVIANI ANSELMI, C; Roncarati, R; Guffanti, G; Malovini, A; Piluso, Giulio; Puca, Aa
A Missense Mutation in CASK Causes FG Syndrome in an Italian Family.
2009 Piluso, Giulio; D'Amico, F.; Saccone, V.; Bismuto, E.; Rotundo, I. L.; DI DOMENICO, Marina; Aurino, S.; Schwartz, C. E.; Neri, G.; Nigro, Vincenzo
Dilated cardiomyopathy associated with mutations in delta-sarcoglycan gene. Report of two familial cases.
2010 Passamano, L; Viggiano, E; Palladino, A; D'Ambrosio, P; Piluso, Giulio; Nigro, Vincenzo; Politano, Luisa
An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation
2010 Tasca, G.; Mirabella, M.; Broccolini, A.; Monforte, M.; Sabatelli, M.; Biscione, G. L.; Piluso, Giulio; Gualandi, F.; Tonali, P. A.; Udd, B.; Ricci, E.
One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography.
2010 Torella, A.; Trimarco, A.; Del Vecchio Blanco, F.; Cuomo, A.; Aurino, S.; Piluso, Giulio; Minetti, C.; Politano, Luisa; Nigro, Vincenzo
P3.14 New AAVs for the muscle gene therapy in sarcoglycan deficient animals
2010 Rotundo, I. L.; Lancioni, A.; Aurino, S.; Nigro, G.; Piluso, G.; Cacciottolo, M.; Auricchio, A.; Nigro, V.
Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies
2010 Piluso, Giulio; Aurino, S; Cacciottolo, M; Del Vecchio Blanco, F; Lancioni, A; Rotundo, Il; Torella, A; Nigro, Vincenzo
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing
2010 Bonnal, Rj; Severgnini, M; Castaldi, A; Bordoni, R; Iacono, M; Trimarco, A; Torella, A; Piluso, Giulio; Aurino, S; Condorelli, G; DE BELLIS, G; Nigro, Vincenzo
Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches
2011 Nigro, Vincenzo; Aurino, S; Piluso, Giulio
P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients
2011 Torella, A.; Dharmalingam, G.; Piluso, G.; Del Vecchio Blanco, F.; Aurino, S.; Fanin, M.; Angelini, C.; Politano, L.; Nigro, V.
Motor Chip: a Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders
2011 Piluso, Giulio; Dionisi, M; DEL VECCHIO BLANCO, F; Torella, A; Aurino, S; Savarese, M; Giugliano, T; Bertini, E; Terracciano, A; Vainzof, M; Criscuolo, C; Politano, Luisa; Casali, C; Santorelli, Fm; Nigro, Vincenzo
Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy
2011 Rotundo, Il; Faraso, S; De Leonibus, E; Nigro, Gerardo; Vitiello, C; Lancioni, A; Di Napoli, D; Castaldo, S; Russo, V; Russo, F; Piluso, Giulio; Auricchio, A; Nigro, Vincenzo
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations
2011 Cacciottolo, M; Numitone, G; Aurino, S; Caserta, Ir; Fanin, M; Politano, Luisa; Minetti, C; Ricci, E; Piluso, Giulio; Angelini, C; Nigro, Vincenzo
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Le Distrofie Muscolari dei Cingoli nel Sud-Italia: aspetti clinici, epidemiologici e genetici | 1-gen-2008 | Passamano, L; Ventriglia, Vm; Palladino, A; Aurino, S; Petretta, Vr; Damico, F; Paciello, O; Saccone, V; Piluso, Giulio; Papparella, S; Nigro, Vincenzo; Politano, Luisa | |
Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations | 1-gen-2008 | Trimarco, A.; Torella, A.; Piluso, Giulio; Ventriglia, V. M.; Politano, Luisa; Nigro, Vincenzo | |
LGMD2H patients of non Hutterite origin with mutations in TRIM32 gene | 1-gen-2008 | Saccone, V; Scutifero, M; Palladino, A; DI GREGORIO, Mg; Ventriglia, Vm; Piluso, Giulio; CANKI KLAIN, N; Nigro, Vincenzo; Politano, Luisa | |
Dysferlinopathies in Southern Italy | 1-gen-2008 | Palladino, A; Aurino, S; Cecio, Mr; Piluso, Giulio; Passamano, L; Nigro, Vincenzo; Politano, Luisa | |
Candidate-gene testing for orphan limb-girdle muscular dystrophies | 1-gen-2008 | Aurino, S; Piluso, Giulio; Saccone, V; Cacciottolo, M; D'Amico, F; Dionisi, M; Totaro, A; Belsito, Angela; DI VICINO, U; Nigro, Vincenzo | |
Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H | 1-gen-2008 | Saccone, V.; Palmieri, M.; Passamano, L.; Piluso, Giulio; Meroni, G.; Politano, Luisa; Nigro, Vincenzo | |
G.P.10.11 T-CAP, the gene responsible for LGMD2G, may interact with dysferlin | 1-gen-2008 | Cacciottolo, M.; Saccone, V.; Numitone, G.; Piluso, G.; Aurino, S.; Nigro, V. | |
Lack of replication of genetic associations with human longevity | 1-gen-2008 | Novelli, V; VIVIANI ANSELMI, C; Roncarati, R; Guffanti, G; Malovini, A; Piluso, Giulio; Puca, Aa | |
A Missense Mutation in CASK Causes FG Syndrome in an Italian Family. | 1-gen-2009 | Piluso, Giulio; D'Amico, F.; Saccone, V.; Bismuto, E.; Rotundo, I. L.; DI DOMENICO, Marina; Aurino, S.; Schwartz, C. E.; Neri, G.; Nigro, Vincenzo | |
Dilated cardiomyopathy associated with mutations in delta-sarcoglycan gene. Report of two familial cases. | 1-gen-2010 | Passamano, L; Viggiano, E; Palladino, A; D'Ambrosio, P; Piluso, Giulio; Nigro, Vincenzo; Politano, Luisa | |
An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation | 1-gen-2010 | Tasca, G.; Mirabella, M.; Broccolini, A.; Monforte, M.; Sabatelli, M.; Biscione, G. L.; Piluso, Giulio; Gualandi, F.; Tonali, P. A.; Udd, B.; Ricci, E. | |
One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography. | 1-gen-2010 | Torella, A.; Trimarco, A.; Del Vecchio Blanco, F.; Cuomo, A.; Aurino, S.; Piluso, Giulio; Minetti, C.; Politano, Luisa; Nigro, Vincenzo | |
P3.14 New AAVs for the muscle gene therapy in sarcoglycan deficient animals | 1-gen-2010 | Rotundo, I. L.; Lancioni, A.; Aurino, S.; Nigro, G.; Piluso, G.; Cacciottolo, M.; Auricchio, A.; Nigro, V. | |
Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies | 1-gen-2010 | Piluso, Giulio; Aurino, S; Cacciottolo, M; Del Vecchio Blanco, F; Lancioni, A; Rotundo, Il; Torella, A; Nigro, Vincenzo | |
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing | 1-gen-2010 | Bonnal, Rj; Severgnini, M; Castaldi, A; Bordoni, R; Iacono, M; Trimarco, A; Torella, A; Piluso, Giulio; Aurino, S; Condorelli, G; DE BELLIS, G; Nigro, Vincenzo | |
Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches | 1-gen-2011 | Nigro, Vincenzo; Aurino, S; Piluso, Giulio | |
P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients | 1-gen-2011 | Torella, A.; Dharmalingam, G.; Piluso, G.; Del Vecchio Blanco, F.; Aurino, S.; Fanin, M.; Angelini, C.; Politano, L.; Nigro, V. | |
Motor Chip: a Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders | 1-gen-2011 | Piluso, Giulio; Dionisi, M; DEL VECCHIO BLANCO, F; Torella, A; Aurino, S; Savarese, M; Giugliano, T; Bertini, E; Terracciano, A; Vainzof, M; Criscuolo, C; Politano, Luisa; Casali, C; Santorelli, Fm; Nigro, Vincenzo | |
Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy | 1-gen-2011 | Rotundo, Il; Faraso, S; De Leonibus, E; Nigro, Gerardo; Vitiello, C; Lancioni, A; Di Napoli, D; Castaldo, S; Russo, V; Russo, F; Piluso, Giulio; Auricchio, A; Nigro, Vincenzo | |
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations | 1-gen-2011 | Cacciottolo, M; Numitone, G; Aurino, S; Caserta, Ir; Fanin, M; Politano, Luisa; Minetti, C; Ricci, E; Piluso, Giulio; Angelini, C; Nigro, Vincenzo |
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