SALVIATI, Alessandro

SALVIATI, Alessandro  

DIPARTIMENTO DI BIOTECNOLOGIE  

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[Hereditary sensory neuropathies with acrodystrophic lesions. Nosographic considerations] 1-gen-1982 B., Lucci; A., Marbini; F., Gemignani; M. M., Bragaglia; E., Govoni; Salviati, Alessandro; Rizzuto, Nicolo'
A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease 1-gen-1995 Gomez-Lira, M.; Perusi, C.; Brutti, N.; Farnetani, M. A.; Margollicci, M. A.; Rizzuto, N.; Pignatti, P. F.; Salviati, A.
A case of Fabry disease with central nervous system (CNS) demyelinating lesions: a double trouble? 1-gen-2008 Invernizzi, P.; Bonometti, M. A.; Turri, E.; Benedetti, Mariadonata; Salviati, Alessandro
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients. 1-gen-1995 Gomez, Maria Macarena; Sangalli, Antonella; Mottes, Monica; Perusi, C; Pignatti, Pierfranco; Rizzuto, Nicolo'; Salviati, Alessandro
A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease 1-gen-2001 Gomez-Lira, M.; Mottes, M.; Perusi, C.; Pignatti, P. F.; Rizzuto, N.; Gatti, R.; Salviati, A.
A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene 1-gen-1997 C., Perusi; Gomez, Maria Macarena; Mottes, Monica; Pignatti, Pierfranco; Rizzuto, Nicolo'; Salviati, Alessandro
Amyotrophy in Shy-Drager syndrome. 1-gen-1983 P., Montagna; P., Martinelli; Rizzuto, Nicolo'; Salviati, Alessandro; F., Rasi; E., Lugaresi
Anti-N-methyl-d-aspartate receptor encephalitis causing a prolonged depressive disorder evolving to inflammatory brain disease. 1-gen-2014 Mariotto, Sara; Tamburin, Stefano; Salviati, Alessandro; Ferrari, Sergio; Zoccarato, M.; Giometto, B.; Bertolasi, Laura; Alessandrini, Franco; Benedetti, Mariadonata; Monaco, Salvatore
Aortic and Mitral Valve Involvement in Maroteaux-Lamy Syndrome VI: Surgical Implications in the Enzyme Replacement Therapy Era 1-gen-2016 Torre, Salvatore; Scarpelli, Mauro; Salviati, Alessandro; Buffone, Ebba; Faggian, Giuseppe; Luciani, GIOVANNI BATTISTA
Atypical presentation of thalamic post-stroke pain. 1-gen-2013 Brigo, Francesco; Rossini, Fabio; Stefani, A.; Tocco, Pierluigi; Fiaschi, Antonio; Salviati, Alessandro
AZT-induced mitochondrial myopathy 1-gen-1992 Tomelleri, Giuliano; Tonin, Paola; Spadaro, M.; Tilia, G.; Orrico, Daniele; Barelli, A.; Bonetti, Bruno; Monaco, Salvatore; Salviati, Alessandro; Morocutti, C.; Rizzuto, Nicolo'
BAEP and autopsy findings in Wallenberg syndrome 1-gen-1982 A., Amantini; G., Arnetoli; L., Rossi; Fenzi, Flavio; Salviati, Alessandro; Rizzuto, Nicolo'; R., Zappoli
CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers 1-gen-2003 Gomez, Maria Macarena; Liguori, M.; Magnani, C.; Bonamini, D.; Salviati, Alessandro; Leone, M.; Andreoli, V.; Trojano, M.; Valentino, P.; Savatteri, G.; Quattrone, A.; Pignatti, Pierfranco; Momigliano Richiardi, P.; Giordano, M.
Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture 1-gen-2021 Grosso, Valentina; Marcolungo, Luca; Maestri, Simone; Alfano, Massimiliano; Lavezzari, Denise; Iadarola, Barbara; Salviati, Alessandro; Mariotti, Barbara; Botta, Annalisa; D'Apice, Maria Rosaria; Novelli, Giuseppe; Delledonne, Massimo; Rossato, Marzia
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? 1-gen-2004 Mancuso, M.; Conforti, F. L.; Rocchi, A.; Tessitore, A.; Muglia, M.; Tedeschi, G.; Panza, D.; Monsurrò, M.; Sola, P.; Mandrioli, J.; Choub, A.; Delcorona, A.; Manca, M. L.; Mazzei, R.; Sprovieri, T.; Filosto, M.; Salviati, Alessandro; Valentino, P.; Bono, F.; Caracciolo, M.; Simone, I. L.; La Bella, V.; Majorana, G.; Siciliano, G.; Murri, L.; Quattrone, A.
COX-2 promoter region polymorphisms in multiple sclerosis: lack of association of -765G>C with disease risk 1-gen-2007 Mazzola, Silvia; Gomez, Maria Macarena; Benedetti, Mariadonata; Salviati, Alessandro; Ottaviani, S.; Malerba, Giovanni; Ortombina, M.; Pignatti, Pierfranco
Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease. 1-gen-2014 Concolino, D.; Degennaro, E.; Parini, R.; on behalf of Fabry Delphi working, Group; Salviati, Alessandro; as a., group member
Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations 1-gen-2000 Gomez, Maria Macarena; Mottes, Monica; Pignatti, Pierfranco; Medica, I.; Uziel, G.; Cappa, M.; Bertini, E.; Rizzuto, Nicolo'; Salviati, Alessandro
Effects of long-term conduction block on membrane properties of reinnervated and normally innervated rat skeletal muscle 1-gen-1996 Pasino, Efrem; Buffelli, Mario Rosario; Arancio, O.; Busetto, Giuseppe; Salviati, Alessandro; Cangiano, Alberto
FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease 1-gen-2016 Mignani, Renzo; Pieruzzi, Federico; Berri, Francesco; Burlina, Alessandro; Chinea, Benito; Gallieni, Maurizio; Pieroni, Maurizio; Salviati, Alessandro; Spada, Marco