Sfoglia per Autore
Mutation analysis and X-inactivation studies in the galactosidase A gene
2002 Morrone A.; Cavicchi C.;
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.
2003 FUNGHINI S; DONATI MA; PASQUINI E; ZAMMARCHI E; A. MORRONE
Congenital sialidosis - from hydrops fetalis to hydrocephalus
2003 Donati M.A.; Caciotti A.; Bardelli T.; Dani C.; D'Azzo A.; Morrone A.; Zammarchi E.
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.
2003 CACIOTTI A; BARDELLI T; CUNNINGHAM J; D'AZZO A; E. ZAMMARCHI; MORRONE A
THE DE NOVO Q167K MUTATION IN THE POU1F1 GENE LEADS TO COMBINED PITUITARY HORMONE DEFICIENCY IN AN ITALIAN PATIENT.
2003 MALVAGIA S; G. POGGI; PASQUINI E.; DONATI M.A.; PELA I; MORRONE A; ZAMMARCHI E
Severe Prognosis in a Large Family with Hypokalemic Periodic Paralysis.
2003 CACIOTTI A; A. MORRONE; DOMENICI R; DONATI M.A.; ZAMMARCHI E
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry.
2003 la Marca G; Malvagia S; Donati MA; Morrone A; Pasquini E; Zammarchi E
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers
2003 A. MORRONE; C. CAVICCHI; T. BARDELLI; D. ANTUZZI; R. PARINI; M. DI ROCCO; S. FERIOZZI; O. GABRIELLI; R. BARONE; G. PISTONE; C. SPISNI; R. RICCI; E. ZAMMARCHI
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
2004 GEORGIOU T; DROUSIOTOU A; CAMPOS Y; CACIOTTI A; SZTRIHA L; GURURAJ A; OZAND P; E. ZAMMARCHI; MORRONE A; D'AZZO A
Fabry disease in Italy: first epidemiologic and collaborative study
2004 Ricci R; Castorina M; Di Lillo M; Antuzzi D; Frustaci A; Parini R; Menni F; Furlan F; Burlina A; Burlina A; Catuogno S; Gabrielli O; Burattini I; Borsini W; Buchner S; Ferriozzi S; Spisni C; De Vito R; Di Rocco M; Aricò M; Pistone G; Bongiorno AM; Morrone A; Cavicchi C; Zammarchi E.
New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor.
2004 S. MALVAGIA; A. MORRONE; A. CACIOTTI; T. BARDELLI; A. DAZZO; G. ANCORA; E. ZAMMARCHI; M. A. DONATI
Primary and secondary elastin binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.
2005 A CACIOTTI; M A DONATI; T BARDELLI; A DAZZO; G MASSAI; L LUCIANI; E ZAMMARCHI; A. MORRONE
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.
2005 Cavicchi C; Donati MA; Pasquini E; Poggi GM; Dionisi-Vici C; Parini R; Zammarchi E; Morrone A.
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency.
2005 Malvagia S; Morrone A; Pasquini E; Funghini S; la Marca G; Zammarchi E; Donati MA.
Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies.
2005 Funghini S; Morrone A; Pasquini E; Zammarchi E; Donati MA.
Successful prenatal molecular diagnosis of Carbamyl Phosphate Syntetase I deficiency in two at risk pregnancies.
2005 S. FUNGHINI; M. DONATI; A. MORRONE; E. PASQUINI; E. ZAMMARCHI
Role of beta-galactosidase and Elastin Binding Protein in Lysosomal and non Lysosomal complexes of GM1- gangliosidosis patients
2005 A. CACIOTTI; M.A.DONATI; A.BONEH; A.DAZZO; A.FEDERICO; R.PARINI; D.ANTUZZI; T.BARDELLI; D.NOSI; V.KIMONIS; E.ZAMMARCHI; A. MORRONE
Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile.
2005 Drousiotou A; Georgiou T; Drousiotou A; Campos Y; Caciotti A; Sztriha L; Gururaj A; Ozand P; Zammarchi E; Morrone A; d Azzo A.
The Arg482His Mutation in the -Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village.
2005 GEORGIOU T; STYLIANIDOU G; ANASTASIADOU V; CACIOTTI A; CAMPOS Y; ZAMMARCHI E; A. MORRONE; D'AZZO A; DROUSIOTOU A
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
2005 A. Caciotti;M. A. Donati;A. Boneh;A. d'Azzo;A. Federico;R. Parini;D. Antuzzi;T. Bardelli;D. Nosi;V. Kimonis;E. Zammarchi;A. Morrone
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Mutation analysis and X-inactivation studies in the galactosidase A gene | 2002 | Morrone A.; Cavicchi C.; | |
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. | 2003 | FUNGHINI S; DONATI MA; PASQUINI E; ZAMMARCHI E; A. MORRONE | |
Congenital sialidosis - from hydrops fetalis to hydrocephalus | 2003 | Donati M.A.; Caciotti A.; Bardelli T.; Dani C.; D'Azzo A.; Morrone A.; Zammarchi E. | |
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. | 2003 | CACIOTTI A; BARDELLI T; CUNNINGHAM J; D'AZZO A; E. ZAMMARCHI; MORRONE A | |
THE DE NOVO Q167K MUTATION IN THE POU1F1 GENE LEADS TO COMBINED PITUITARY HORMONE DEFICIENCY IN AN ITALIAN PATIENT. | 2003 | MALVAGIA S; G. POGGI; PASQUINI E.; DONATI M.A.; PELA I; MORRONE A; ZAMMARCHI E | |
Severe Prognosis in a Large Family with Hypokalemic Periodic Paralysis. | 2003 | CACIOTTI A; A. MORRONE; DOMENICI R; DONATI M.A.; ZAMMARCHI E | |
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry. | 2003 | la Marca G; Malvagia S; Donati MA; Morrone A; Pasquini E; Zammarchi E | |
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers | 2003 | A. MORRONE; C. CAVICCHI; T. BARDELLI; D. ANTUZZI; R. PARINI; M. DI ROCCO; S. FERIOZZI; O. GABRIELLI; R. BARONE; G. PISTONE; C. SPISNI; R. RICCI; E. ZAMMARCHI | |
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. | 2004 | GEORGIOU T; DROUSIOTOU A; CAMPOS Y; CACIOTTI A; SZTRIHA L; GURURAJ A; OZAND P; E. ZAMMARCHI; MORRONE A; D'AZZO A | |
Fabry disease in Italy: first epidemiologic and collaborative study | 2004 | Ricci R; Castorina M; Di Lillo M; Antuzzi D; Frustaci A; Parini R; Menni F; Furlan F; Burlina A; Burlina A; Catuogno S; Gabrielli O; Burattini I; Borsini W; Buchner S; Ferriozzi S; Spisni C; De Vito R; Di Rocco M; Aricò M; Pistone G; Bongiorno AM; Morrone A; Cavicchi C; Zammarchi E. | |
New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor. | 2004 | S. MALVAGIA; A. MORRONE; A. CACIOTTI; T. BARDELLI; A. DAZZO; G. ANCORA; E. ZAMMARCHI; M. A. DONATI | |
Primary and secondary elastin binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients. | 2005 | A CACIOTTI; M A DONATI; T BARDELLI; A DAZZO; G MASSAI; L LUCIANI; E ZAMMARCHI; A. MORRONE | |
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency. | 2005 | Cavicchi C; Donati MA; Pasquini E; Poggi GM; Dionisi-Vici C; Parini R; Zammarchi E; Morrone A. | |
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. | 2005 | Malvagia S; Morrone A; Pasquini E; Funghini S; la Marca G; Zammarchi E; Donati MA. | |
Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies. | 2005 | Funghini S; Morrone A; Pasquini E; Zammarchi E; Donati MA. | |
Successful prenatal molecular diagnosis of Carbamyl Phosphate Syntetase I deficiency in two at risk pregnancies. | 2005 | S. FUNGHINI; M. DONATI; A. MORRONE; E. PASQUINI; E. ZAMMARCHI | |
Role of beta-galactosidase and Elastin Binding Protein in Lysosomal and non Lysosomal complexes of GM1- gangliosidosis patients | 2005 | A. CACIOTTI; M.A.DONATI; A.BONEH; A.DAZZO; A.FEDERICO; R.PARINI; D.ANTUZZI; T.BARDELLI; D.NOSI; V.KIMONIS; E.ZAMMARCHI; A. MORRONE | |
Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile. | 2005 | Drousiotou A; Georgiou T; Drousiotou A; Campos Y; Caciotti A; Sztriha L; Gururaj A; Ozand P; Zammarchi E; Morrone A; d Azzo A. | |
The Arg482His Mutation in the -Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village. | 2005 | GEORGIOU T; STYLIANIDOU G; ANASTASIADOU V; CACIOTTI A; CAMPOS Y; ZAMMARCHI E; A. MORRONE; D'AZZO A; DROUSIOTOU A | |
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. | 2005 | A. Caciotti;M. A. Donati;A. Boneh;A. d'Azzo;A. Federico;R. Parini;D. Antuzzi;T. Bardelli;D. Nosi;V. Kimonis;E. Zammarchi;A. Morrone |
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