BALLABIO, ANDREA

BALLABIO, ANDREA  

Dipartimento di Scienze mediche traslazionali  

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Steroid sulphatasedeficiency is present in patients with the syndrome 'ichthyosis and malehypogonadism' and with 'Rud syndrome'. 1.1 Articolo in rivista 1984 Andria, Generoso; Ballabio, Andrea; Parenti, Giancarlo; DI MAIO, Salvatore; Piccirillo, A.
Correction of Hunter syndrome via gene delivery using the MPSII mouse model. 1.1 Articolo in rivista 2006 Cardone, M.; Polito, V. A.; Pepe, S.; Dazzo, A.; Muenzer, J.; Auricchio, Alberto; Ballabio, Andrea; Cosma, M. P. .
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. 1.1 Articolo in rivista 2002 Errico, A; Ballabio, Andrea; Rugarli, Ei
Genetics of disease The sex chromosomes and human disease. 1.1 Articolo in rivista 2006 Ballabio, Andrea; Nelson, D; Rozen, S.
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 1.1 Articolo in rivista 2007 Fedele, Ao; Filocamo, M; DI ROCCO, M; Sersale, G; Lubke, T; DI NATALE, Paola; Cosma, Mp; Ballabio, Andrea
Biochemical characterization of arysulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. 1.1 Articolo in rivista 1998 Daniele, A; Parenti, G; Daddio, M; Andria, G; Ballabio, Andrea; Meroni, G.
Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle. 1.1 Articolo in rivista 1999 Cainarca, S; Messali, S; Ballabio, Andrea; Meroni, G.
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. 1.1 Articolo in rivista 2004 Ferreirinha, F; Quattrini, A; Pirozzi, M; Valsecchi, V; Dina, G; Broccoli, V; Piemonte, F; Tozzi, G; Gaeta, L; Casari, G; Ballabio, Andrea; AND RUGARLI, E. I.
Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders 1.1 Articolo in rivista 2009 Ballabio, Andrea
Lysosomal disorders: From storage to cellular damage 1.1 Articolo in rivista 2009 Ballabio, Andrea; Gieselmann, V.
Contiguous gene syndromes due todeletions in the distal short arm of the human X chromosome. 1.1 Articolo in rivista 1989 Ballabio, Andrea; Bardoni, B; Carrozzo, R; Andria, Generoso; Bick, D; Campbell, L; Hamel, B; Ferguson Smith, Ma; Gimelli, G; Fraccaro, M.
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. 1.1 Articolo in rivista 1991 Brown, Cj; Ballabio, Andrea; Rupert, Jl; Lafreniere, Rg; Grompe, M; Tonlorenzi, R; Willard, Hf
PCR test for cystic fibrosis deletion. 1.1 Articolo in rivista 1990 Ballabio, Andrea; Gibbs, R. A.; Caskey, C. T.
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. 1.1 Articolo in rivista 1991 Franco, Brunella; Guioli, S; Pragliola, A; Incerti, B; Bardoni, B; Tonlorenzi, R; Carrozzo, R; Maestrini, E; Pieretti, M; Taillon Miller, P; Brown, Cj; Willard, Hf; Lawrence, C; Graziella Persico, M; Camerino, G; Ballabio, Andrea
Localization of the X inactivation centre on the human X chromosome in Xq13. 1.1 Articolo in rivista 1991 Brown, Cj; Lafreniere, Rg; Powers, Ve; Sebastio, G; Ballabio, Andrea; Pettigrew, Al; Ledbetter, Dh; Levy, E; Craig, Iw; Willard, H. F.
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. 1.1 Articolo in rivista 1987 Ballabio, Andrea; Parenti, G; Carrozzo, R; Sebastio, G; Andria, G; Buckle, V; Fraser, N; Craig, I; Rocchi, M; Romeo, G.
Characterization of a murine gene expressed from the inactive X chromosome. 1.1 Articolo in rivista 1991 Borsani, G; Tonlorenzi, R; Simmler, Mc; Dandolo, L; Arnaud, D; Capra, V; Grompe, M; Pizzuti, A; Muzny, D; Lawrence, C; Willard, Hf; Avner, P; Ballabio, Andrea
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. 1.1 Articolo in rivista 1998 G., Casari; M. D., Fusco; S., Ciarmatori; M., Zeviani; M., Mora; P., Fernandez; DE MICHELE, Giuseppe; Filla, Alessandro; Cocozza, Sergio; R., Marconi; A., Dürr; B., Fontaine; Ballabio, Andrea
Lack of sik1 in mouse embryonic stem cells impairs cardiomyogenesis by down-regulating the cyclin-dependent kinase inhibitor p57kip2 1.1 Articolo in rivista 2010 Romito, A; Lonardo, E; Roma, G; Minchiotti, G; Ballabio, Andrea; Cobellis, G.
Evidence for interaction between human PRUNE and nm23-H1 NDPKinase. 1.1 Articolo in rivista 1999 Reymond, A; Volorio, S; Merla, G; Almaghtheh, M; Zuffardi, O; Bulfone, A; Ballabio, Andrea; Zollo, Massimo