Sfoglia per Autore
Two novel missense mutations causing adrenoleukodystrophy in Italian patients
1999-01-01 Perusi, C; Gomez, Maria Macarena; Mottes, Monica; Pignatti, Pierfranco; Bertini, E; Cappa, M; Vigliani, Mc; Schiffer, D; Rizzuto, Nicolo'; Salviati, Alessandro
Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patients
1999-01-01 Gomez, Maria Macarena; C., Perusi; Mottes, Monica; Pignatti, Pierfranco; G., Uziel; Rizzuto, Nicolo'; Salviati, Alessandro
Neuroaxonal dystrophy with dystonia and pallidal involvement
1999-01-01 Simonati, A.; Trevisan, C.; Salviati, A.; Rizzuto, N.
Myelin Oligodendrocyte glycoprotein (MOG) polymorphisms and adrenoleukodystrophy
2000-01-01 Gomez, Maria Macarena; Marzari, M. G.; Pignatti, Pierfranco; Rizzuto, Nicolo'; Salviati, Alessandro
Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations
2000-01-01 Gomez, Maria Macarena; Mottes, Monica; Pignatti, Pierfranco; Medica, I.; Uziel, G.; Cappa, M.; Bertini, E.; 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
2001-01-01 Gomez-Lira, M.; Mottes, M.; Perusi, C.; Pignatti, P. F.; Rizzuto, N.; Gatti, R.; Salviati, A.
Prevalence of dementia and apoliprotein E genotype distribution in the elderly of Buttapietra, Verona Province, Italy
2002-01-01 Benedetti, Mariadonata; Salviati, Alessandro; Filipponi, S.; Manfredi, M.; DE TOGNI, L.; Gomez, Maria Macarena; Stenta, G.; Fincati, E.; Pampanin, M.; Rizzuto, Nicolo'; Danti, G.
Myelin oligodendrocyte glycoprotein polymorphisms and multiple sclerosis.
2002-01-01 Gomez, Maria Macarena; Moretto, G.; Bonamini, D.; Benedetti, Mariadonata; Pignatti, Pierfranco; Rizzuto, Nicolo'; Salviati, Alessandro
Neuropathology of cognitively normal elderly
2003-01-01 Knopman, D. S.; Parisi, J. E.; Salviati, Alessandro; Floriach Robert, M.; Boeve, B. F.; Ivnik, R. J.; Smith, G. E.; Dickson, D. W.; Johnson, K. A.; Petersen, L. E.; Mcdonald, W. C.; Braak, H.; Petersen, R. C.
Vascular dementia in a population-based autopsy study
2003-01-01 Knopman, D. S.; Parisi, J. E.; Boeve, B. F.; Cha, R. H.; Apaydin, H.; Salviati, Alessandro; Edland, S. D.; Rocca, W. A.
CD45 and Multiple Sclerosis: the exon 4 C77G polymorphism and new markers
2003-01-01 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.
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?
2004-01-01 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.
Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene
2004-01-01 Gallo, S.; Randi, D.; Bertelli, M.; Salviati, Alessandro; Pandolfo, M.
COX-2 promoter region polymorphisms in multiple sclerosis: lack of association of -765G>C with disease risk
2007-01-01 Mazzola, Silvia; Gomez, Maria Macarena; Benedetti, Mariadonata; Salviati, Alessandro; Ottaviani, S.; Malerba, Giovanni; Ortombina, M.; Pignatti, Pierfranco
A case of Fabry disease with central nervous system (CNS) demyelinating lesions: a double trouble?
2008-01-01 Invernizzi, P.; Bonometti, M. A.; Turri, E.; Benedetti, Mariadonata; Salviati, Alessandro
Unusual renal presentation of Fabry disease in a female patient.
2009-01-01 Abaterusso, Cataldo; De Biase, V.; Salviati, Alessandro; Fabris, A.; Millardi, D.; Tomei, Paola; Bernich, P.; Lupo, Antonio; Gambaro, G.
Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy.
2010-01-01 Salviati, Alessandro; Burlina, A. P.; Borsini, W.
Genetic association and altered gene expression of mir-155 in multiple sclerosis patients.
2011-01-01 Paraboschi, E. M.; Soldà, G.; Gemmati, D.; Orioli, E.; Zeri, G.; Benedetti, Mariadonata; Salviati, Alessandro; Barizzone, N.; Leone, M.; Duga, S.; Asselta, R.
GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings.
2011-01-01 Caciotti, A.; Garman, S. C.; Rivera Colón, Y.; Procopio, E.; Catarzi, S.; Ferri, L.; Guido, C.; Martelli, P.; Parini, R.; Antuzzi, D.; Battini, R.; Sibilio, M.; Simonati, Alessandro; Fontana, Elena; Salviati, Alessandro; Akinci, G.; Cereda, C.; Dionisi Vici, C.; Deodato, F.; D'Amico, A.; D'Azzo, A.; Bertini, E.; Filocamo, M.; Scarpa, M.; di Rocco, M.; Tifft, C. J.; Ciani, F.; Gasperini, S.; Pasquini, E.; Guerrini, R.; Donati, M. A.; Morrone, A.
Prevalence of multiple sclerosis in Verona, Italy: an epidemiologic and genetic study
2012-01-01 Gajofatto, Alberto; A., Stefani; Turatti, Marco; Bianchi, Maria Rachele; Gomez, Maria Macarena; Salviati, Alessandro; Benedetti, Mariadonata
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Two novel missense mutations causing adrenoleukodystrophy in Italian patients | 1-gen-1999 | Perusi, C; Gomez, Maria Macarena; Mottes, Monica; Pignatti, Pierfranco; Bertini, E; Cappa, M; Vigliani, Mc; Schiffer, D; Rizzuto, Nicolo'; Salviati, Alessandro | |
Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patients | 1-gen-1999 | Gomez, Maria Macarena; C., Perusi; Mottes, Monica; Pignatti, Pierfranco; G., Uziel; Rizzuto, Nicolo'; Salviati, Alessandro | |
Neuroaxonal dystrophy with dystonia and pallidal involvement | 1-gen-1999 | Simonati, A.; Trevisan, C.; Salviati, A.; Rizzuto, N. | |
Myelin Oligodendrocyte glycoprotein (MOG) polymorphisms and adrenoleukodystrophy | 1-gen-2000 | Gomez, Maria Macarena; Marzari, M. G.; Pignatti, Pierfranco; Rizzuto, Nicolo'; Salviati, Alessandro | |
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 | |
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. | |
Prevalence of dementia and apoliprotein E genotype distribution in the elderly of Buttapietra, Verona Province, Italy | 1-gen-2002 | Benedetti, Mariadonata; Salviati, Alessandro; Filipponi, S.; Manfredi, M.; DE TOGNI, L.; Gomez, Maria Macarena; Stenta, G.; Fincati, E.; Pampanin, M.; Rizzuto, Nicolo'; Danti, G. | |
Myelin oligodendrocyte glycoprotein polymorphisms and multiple sclerosis. | 1-gen-2002 | Gomez, Maria Macarena; Moretto, G.; Bonamini, D.; Benedetti, Mariadonata; Pignatti, Pierfranco; Rizzuto, Nicolo'; Salviati, Alessandro | |
Neuropathology of cognitively normal elderly | 1-gen-2003 | Knopman, D. S.; Parisi, J. E.; Salviati, Alessandro; Floriach Robert, M.; Boeve, B. F.; Ivnik, R. J.; Smith, G. E.; Dickson, D. W.; Johnson, K. A.; Petersen, L. E.; Mcdonald, W. C.; Braak, H.; Petersen, R. C. | |
Vascular dementia in a population-based autopsy study | 1-gen-2003 | Knopman, D. S.; Parisi, J. E.; Boeve, B. F.; Cha, R. H.; Apaydin, H.; Salviati, Alessandro; Edland, S. D.; Rocca, W. A. | |
CD45 and Multiple Sclerosis: the exon 4 C77G polymorphism 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. | |
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. | |
Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene | 1-gen-2004 | Gallo, S.; Randi, D.; Bertelli, M.; Salviati, Alessandro; Pandolfo, M. | |
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 | |
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 | |
Unusual renal presentation of Fabry disease in a female patient. | 1-gen-2009 | Abaterusso, Cataldo; De Biase, V.; Salviati, Alessandro; Fabris, A.; Millardi, D.; Tomei, Paola; Bernich, P.; Lupo, Antonio; Gambaro, G. | |
Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy. | 1-gen-2010 | Salviati, Alessandro; Burlina, A. P.; Borsini, W. | |
Genetic association and altered gene expression of mir-155 in multiple sclerosis patients. | 1-gen-2011 | Paraboschi, E. M.; Soldà, G.; Gemmati, D.; Orioli, E.; Zeri, G.; Benedetti, Mariadonata; Salviati, Alessandro; Barizzone, N.; Leone, M.; Duga, S.; Asselta, R. | |
GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings. | 1-gen-2011 | Caciotti, A.; Garman, S. C.; Rivera Colón, Y.; Procopio, E.; Catarzi, S.; Ferri, L.; Guido, C.; Martelli, P.; Parini, R.; Antuzzi, D.; Battini, R.; Sibilio, M.; Simonati, Alessandro; Fontana, Elena; Salviati, Alessandro; Akinci, G.; Cereda, C.; Dionisi Vici, C.; Deodato, F.; D'Amico, A.; D'Azzo, A.; Bertini, E.; Filocamo, M.; Scarpa, M.; di Rocco, M.; Tifft, C. J.; Ciani, F.; Gasperini, S.; Pasquini, E.; Guerrini, R.; Donati, M. A.; Morrone, A. | |
Prevalence of multiple sclerosis in Verona, Italy: an epidemiologic and genetic study | 1-gen-2012 | Gajofatto, Alberto; A., Stefani; Turatti, Marco; Bianchi, Maria Rachele; Gomez, Maria Macarena; Salviati, Alessandro; Benedetti, Mariadonata |
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