BALLABIO, ANDREA
BALLABIO, ANDREA
Dipartimento di Scienze mediche traslazionali
Strategies for Gene Discovery in Mammalian Systems
1998 Ballabio, Andrea; Brown, S.; Fisher, E.
Methods and compositions for recovering or improving visual function
2006 Auricchio, Alberto; Surace, E. M.; Ballabio, Andrea
Kallmann Syndrome
2000 Ballabio, Andrea
Pelizaeus-Merzbacher Disease
1995 Zoghbi, H. Y.; Ballabio, Andrea
Multiple Sulfatase Deficiency and the Nature of the Sulfatase Family
2000 Hopwood, J. J.; Ballabio, Andrea
Neurofibromatosis 2
1995 Zoghbi, H. Y.; Ballabio, Andrea
Kallmann Syndrome.
1995 Ballabio, Andrea; Zoghbi, H. Y.
Spinocerebellar Ataxia Type 1.
1995 Zoghbi, H. Y.; Ballabio, Andrea
Waardenburg Syndrome
1995 Zoghbi, H. Y.; Ballabio, Andrea
Steroid Sulfatase Deficiency and X-linked Ichthyosis
2000 Ballabio, Andrea
Molecular Cytogenetics of Contiguous Gene Syndromes: Mechanisms and Consequences of Gene Dosage Imbalance.
1995 Ledbetter, D. H.; Ballabio, Andrea
New targets for old diseases: lessons from mucolipidosis type II.
2013 Settembre, Carmine; Ballabio, Andrea
Type I Ocular Albinism: from molecular bases to therapy (RO1).
2004 Ballabio, Andrea
Self-eating in skeletal development: Implications for lysosomal storage disorders. Autophagy. Feb 13;5(2). [Epub ahead of print] 2009
2009 Settembre, Carmine; Arteaga Solis, E; Ballabio, Andrea; Karsenty, G.
Intracerebral Administration of Adeno-Associated Viral Vector Serotype rh.10 Carrying Human SGSH and SUMF1 cDNAs in Children with Mucopolysaccharidosis Type IIIA Disease: Results of a Phase I/II Trial.
2014 Tardieu, M; Z?rah, M; Husson, B; de Bournonville, S; Deiva, K; Adamsbaum, C; Vincent, F; Hocquemiller, M; Broissand, C; Furlan, V; Ballabio, Andrea; Fraldi, Alessandro; Crystal, Rg; Baugnon, T; Roujeau, T; Heard, Jm; Danos, O.
T. rex attacks the lysosome.
2013 Simon, Ak; Ballabio, Andrea
Neuronal-Targeted TFEB Accelerates Lysosomal Degradation of APP, Reducing Aβ Generation and Amyloid Plaque Pathogenesis.
2015 Xiao, Q; Yan, P; Ma, X; Liu, H; Perez, R; Zhu, A; Gonzales, E; Tripoli, Dl; Czerniewski, L; Ballabio, Andrea; Cirrito, Jr; Diwan, A; Lee, Jm
The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.
1996 Auricchio, Alberto; Brancolini, V; Casari, G; Milla, P. J.; Smith, V. V.; Devoto, M; Ballabio, Andrea
Double heterozigosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.
1999 Auricchio, Alberto; Griseri, P.; Carpentieri, M. L.; Betsos, N.; Staiano, Annamaria; Tozzi, A.; Priolo, M.; Thompson, H.; Bocciardi, R.; Romeo, G.; Ballabio, Andrea; Ceccherini, I.
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3b-hydroxysteroid-D5-desaturase
2002 BRUNETTI PIERRI, Nicola; Corso, G; Rossi, M; Ferrari, P; Balli, F; Rivasi, F; Annunziata, I; Ballabio, Andrea; DELLO RUSSO, A; Andria, Generoso; Parenti, Giancarlo
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Strategies for Gene Discovery in Mammalian Systems | 2.1 Contributo in volume (Capitolo o Saggio) | 1998 | Ballabio, Andrea; Brown, S.; Fisher, E. | |
| Methods and compositions for recovering or improving visual function | 6.1 Brevetto | 2006 | Auricchio, Alberto; Surace, E. M.; Ballabio, Andrea | |
| Kallmann Syndrome | 2.1 Contributo in volume (Capitolo o Saggio) | 2000 | Ballabio, Andrea | |
| Pelizaeus-Merzbacher Disease | 2.1 Contributo in volume (Capitolo o Saggio) | 1995 | Zoghbi, H. Y.; Ballabio, Andrea | |
| Multiple Sulfatase Deficiency and the Nature of the Sulfatase Family | 2.1 Contributo in volume (Capitolo o Saggio) | 2000 | Hopwood, J. J.; Ballabio, Andrea | |
| Neurofibromatosis 2 | 2.1 Contributo in volume (Capitolo o Saggio) | 1995 | Zoghbi, H. Y.; Ballabio, Andrea | |
| Kallmann Syndrome. | 2.1 Contributo in volume (Capitolo o Saggio) | 1995 | Ballabio, Andrea; Zoghbi, H. Y. | |
| Spinocerebellar Ataxia Type 1. | 2.1 Contributo in volume (Capitolo o Saggio) | 1995 | Zoghbi, H. Y.; Ballabio, Andrea | |
| Waardenburg Syndrome | 2.1 Contributo in volume (Capitolo o Saggio) | 1995 | Zoghbi, H. Y.; Ballabio, Andrea | |
| Steroid Sulfatase Deficiency and X-linked Ichthyosis | 2.1 Contributo in volume (Capitolo o Saggio) | 2000 | Ballabio, Andrea | |
| Molecular Cytogenetics of Contiguous Gene Syndromes: Mechanisms and Consequences of Gene Dosage Imbalance. | 2.1 Contributo in volume (Capitolo o Saggio) | 1995 | Ledbetter, D. H.; Ballabio, Andrea | |
| New targets for old diseases: lessons from mucolipidosis type II. | 1.1 Articolo in rivista | 2013 | Settembre, Carmine; Ballabio, Andrea | |
| Type I Ocular Albinism: from molecular bases to therapy (RO1). | 8.07 Progetti di Ricerca Finanziati | 2004 | Ballabio, Andrea | |
| Self-eating in skeletal development: Implications for lysosomal storage disorders. Autophagy. Feb 13;5(2). [Epub ahead of print] 2009 | 1.1 Articolo in rivista | 2009 | Settembre, Carmine; Arteaga Solis, E; Ballabio, Andrea; Karsenty, G. | |
| Intracerebral Administration of Adeno-Associated Viral Vector Serotype rh.10 Carrying Human SGSH and SUMF1 cDNAs in Children with Mucopolysaccharidosis Type IIIA Disease: Results of a Phase I/II Trial. | 1.1 Articolo in rivista | 2014 | Tardieu, M; Z?rah, M; Husson, B; de Bournonville, S; Deiva, K; Adamsbaum, C; Vincent, F; Hocquemiller, M; Broissand, C; Furlan, V; Ballabio, Andrea; Fraldi, Alessandro; Crystal, Rg; Baugnon, T; Roujeau, T; Heard, Jm; Danos, O. | |
| T. rex attacks the lysosome. | 1.1 Articolo in rivista | 2013 | Simon, Ak; Ballabio, Andrea | |
| Neuronal-Targeted TFEB Accelerates Lysosomal Degradation of APP, Reducing Aβ Generation and Amyloid Plaque Pathogenesis. | 1.1 Articolo in rivista | 2015 | Xiao, Q; Yan, P; Ma, X; Liu, H; Perez, R; Zhu, A; Gonzales, E; Tripoli, Dl; Czerniewski, L; Ballabio, Andrea; Cirrito, Jr; Diwan, A; Lee, Jm | |
| The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. | 1.1 Articolo in rivista | 1996 | Auricchio, Alberto; Brancolini, V; Casari, G; Milla, P. J.; Smith, V. V.; Devoto, M; Ballabio, Andrea | |
| Double heterozigosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. | 1.1 Articolo in rivista | 1999 | Auricchio, Alberto; Griseri, P.; Carpentieri, M. L.; Betsos, N.; Staiano, Annamaria; Tozzi, A.; Priolo, M.; Thompson, H.; Bocciardi, R.; Romeo, G.; Ballabio, Andrea; Ceccherini, I. | |
| Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3b-hydroxysteroid-D5-desaturase | 1.1 Articolo in rivista | 2002 | BRUNETTI PIERRI, Nicola; Corso, G; Rossi, M; Ferrari, P; Balli, F; Rivasi, F; Annunziata, I; Ballabio, Andrea; DELLO RUSSO, A; Andria, Generoso; Parenti, Giancarlo |