Sfoglia per Autore
Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1
2002-01-01 Zortea, M.; Vettori, A.; Trevisan, C. P.; Bellini, S.; Vazza, G.; Armani, M.; Simonati, Alessandro; Mostacciuolo, M. L.
No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V
2002-01-01 Toscano, E.; Simonati, Alessandro; Indo, Y.; Andria, G.
Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease)
2003-01-01 Simonati, Alessandro; Filosto, M.; Savio, C.; Tomelleri, Giuliano; Tonin, Paola; DALLA BERNARDINA, Bernardo; Rizzuto, Nicolo'
Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease
2003-01-01 Simonati, Alessandro; Filosto, M.; Tomelleri, Giuliano; Savio, C.; Tonin, Paola; Polo, A.; Rizzuto, Nicolo'
MELAS: clinical phenotypes and morphological brain abnormalities
2003-01-01 Sparaco, M.; Simonati, Alessandro; Cavallaro, T.; Bartolomei, L.; Grauso, M.; Piscioli, F.; Morelli, Luca; Rizzuto, Nicolo'
Dysmyelinating neuropathies of infancy: defined and undefined forms
2004-01-01 Fabrizi, Gian Maria; Cavallaro, T.; Ferrarini, Moreno; Angiari, Chiara; Cabrini, Ilaria; Simonati, Alessandro; Rizzuto, Nicolo'
Spinal cord lesions
2004-01-01 Simonati, Alessandro
Chapter 14 | Dysmyelinating neuropathies of infancy: defined and undefined forms
2004-01-01 Fabrizi, Gian Maria; Cavallaro, Tiziana; Ferrarini, Moreno; Angiari, Chiara; Cabrini, Ilaria; Simonati, Alessandro; Rizzuto, Nicolo'
Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation
2004-01-01 Filosto, M.; Mancuso, M.; Tomelleri, Giuliano; Rizzuto, Nicolo'; DALLA BERNARDINA, Bernardo; Di Mauro, S.; Simonati, Alessandro
Cerebral cortex three-dimensional profiling in human fetuses by magnetic resonance imaging
2004-01-01 Sbarbati, Andrea; Pizzini, Francesca; Fabene, Paolo; Nicolato, Elena; Marzola, Pasquina; Calderan, Laura; Simonati, Alessandro; Longo, L; Osculati, Francesco; Beltramello, A.
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA
2005-01-01 Ferrari, G.; Lamantea, E.; Donati, A.; Filosto, M.; Briem, E.; Carrara, F.; Parini, R.; Simonati, Alessandro; Santer, R.; Zeviani, M.
Malformazioni cerebrali e neuropatologia perinatale.
2006-01-01 Simonati, Alessandro
Unexpected subacute leucoencephalopathy following intrathecal methotrexate and cytarabine administration in a patient homozygous for MTHFR 677C→T polymorphism.
2006-01-01 Bonifacio, Massimiliano; Andreoli, A; Friso, Simonetta; Guarini, Patrizia; Simonati, Alessandro; Ruggeri, Mirella; Nadali, G; Pizzolo, G.
Malattie mitocondriali
2006-01-01 Spinazzola, A.; Farina, L.; Simonati, Alessandro; Zeviani, M.
A novel missense mutation in the L1CAM gene in a boy with L1-disease.
2006-01-01 Simonati, Alessandro; Boaretto, F.; Vettori, Andrea; Dabrilli, P.; Criscuolo, L.; Rizzuto, Nicolo'; Mostacciuolo, M. L.
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean
2006-01-01 Cannelli, N.; Cassandrini, D.; Bertini, E.; Striano, P.; Fusco, L.; Gaggero, R.; Specchio, N.; Biancheri, R.; Vigevano, F.; Bruno, C.; Simonati, Alessandro; Zara, F.; Santorelli, F. M.
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
2006-01-01 Valente, E. M.; Silhavy, J. L.; Brancati, F.; Barrano, G.; Krishnaswami, S. R.; Castori, M.; Lancaster, M. A.; Boltshauser, E.; Boccone, L.; Al Gazali, L.; Fazzi, E.; Signorini, S.; Louie, C. M.; Bellacchio, E.; International Joubert Syndrome Related Disorders Study, Group; Simonati, Alessandro; Bertini, E.; Dallapiccola, B.; Gleeson, J. G.
PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron
2006-01-01 Morgan, N. V.; Westaway, S. K.; Morton, J. E.; Gregory, A.; Gissen, P.; Sonek, S.; Cangul, H.; Coryell, J.; Canham, N.; Nardocci, N.; Zorzi, G.; Pasha, S.; Rodriguez, D.; Desguerre, I.; Mubaidin, A.; Bertini, E.; Trembath, R. C.; Simonati, Alessandro; Schanen, C.; Johnson, C. A.; Levinson, B.; Woods, C. G.; Wilmot, B.; Kramer, P.; Gitschier, J.; Maher, R.; Hayflick, S. J.
Protein glutathionylation in human central nervous system: potential role in redox regulation of neuronal defense against free radicals
2006-01-01 Sparaco, M.; Gaeta, L. M.; Tozzi, G.; Bertini, E.; Pastore, A.; Simonati, Alessandro; Santorelli, F. M.; Piemonte, F.
Neuronal-specific roles of the survival motor neuron protein: evidence from survival motor neuron expression patterns in the developing human central nervous system.
2006-01-01 Giavazzi, A.; Setola, V.; Simonati, Alessandro; Battaglia, G.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1 | 1-gen-2002 | Zortea, M.; Vettori, A.; Trevisan, C. P.; Bellini, S.; Vazza, G.; Armani, M.; Simonati, Alessandro; Mostacciuolo, M. L. | |
| No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V | 1-gen-2002 | Toscano, E.; Simonati, Alessandro; Indo, Y.; Andria, G. | |
| Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease) | 1-gen-2003 | Simonati, Alessandro; Filosto, M.; Savio, C.; Tomelleri, Giuliano; Tonin, Paola; DALLA BERNARDINA, Bernardo; Rizzuto, Nicolo' | |
| Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease | 1-gen-2003 | Simonati, Alessandro; Filosto, M.; Tomelleri, Giuliano; Savio, C.; Tonin, Paola; Polo, A.; Rizzuto, Nicolo' | |
| MELAS: clinical phenotypes and morphological brain abnormalities | 1-gen-2003 | Sparaco, M.; Simonati, Alessandro; Cavallaro, T.; Bartolomei, L.; Grauso, M.; Piscioli, F.; Morelli, Luca; Rizzuto, Nicolo' | |
| Dysmyelinating neuropathies of infancy: defined and undefined forms | 1-gen-2004 | Fabrizi, Gian Maria; Cavallaro, T.; Ferrarini, Moreno; Angiari, Chiara; Cabrini, Ilaria; Simonati, Alessandro; Rizzuto, Nicolo' | |
| Spinal cord lesions | 1-gen-2004 | Simonati, Alessandro | |
| Chapter 14 | Dysmyelinating neuropathies of infancy: defined and undefined forms | 1-gen-2004 | Fabrizi, Gian Maria; Cavallaro, Tiziana; Ferrarini, Moreno; Angiari, Chiara; Cabrini, Ilaria; Simonati, Alessandro; Rizzuto, Nicolo' | |
| Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation | 1-gen-2004 | Filosto, M.; Mancuso, M.; Tomelleri, Giuliano; Rizzuto, Nicolo'; DALLA BERNARDINA, Bernardo; Di Mauro, S.; Simonati, Alessandro | |
| Cerebral cortex three-dimensional profiling in human fetuses by magnetic resonance imaging | 1-gen-2004 | Sbarbati, Andrea; Pizzini, Francesca; Fabene, Paolo; Nicolato, Elena; Marzola, Pasquina; Calderan, Laura; Simonati, Alessandro; Longo, L; Osculati, Francesco; Beltramello, A. | |
| Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA | 1-gen-2005 | Ferrari, G.; Lamantea, E.; Donati, A.; Filosto, M.; Briem, E.; Carrara, F.; Parini, R.; Simonati, Alessandro; Santer, R.; Zeviani, M. | |
| Malformazioni cerebrali e neuropatologia perinatale. | 1-gen-2006 | Simonati, Alessandro | |
| Unexpected subacute leucoencephalopathy following intrathecal methotrexate and cytarabine administration in a patient homozygous for MTHFR 677C→T polymorphism. | 1-gen-2006 | Bonifacio, Massimiliano; Andreoli, A; Friso, Simonetta; Guarini, Patrizia; Simonati, Alessandro; Ruggeri, Mirella; Nadali, G; Pizzolo, G. | |
| Malattie mitocondriali | 1-gen-2006 | Spinazzola, A.; Farina, L.; Simonati, Alessandro; Zeviani, M. | |
| A novel missense mutation in the L1CAM gene in a boy with L1-disease. | 1-gen-2006 | Simonati, Alessandro; Boaretto, F.; Vettori, Andrea; Dabrilli, P.; Criscuolo, L.; Rizzuto, Nicolo'; Mostacciuolo, M. L. | |
| Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean | 1-gen-2006 | Cannelli, N.; Cassandrini, D.; Bertini, E.; Striano, P.; Fusco, L.; Gaggero, R.; Specchio, N.; Biancheri, R.; Vigevano, F.; Bruno, C.; Simonati, Alessandro; Zara, F.; Santorelli, F. M. | |
| Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. | 1-gen-2006 | Valente, E. M.; Silhavy, J. L.; Brancati, F.; Barrano, G.; Krishnaswami, S. R.; Castori, M.; Lancaster, M. A.; Boltshauser, E.; Boccone, L.; Al Gazali, L.; Fazzi, E.; Signorini, S.; Louie, C. M.; Bellacchio, E.; International Joubert Syndrome Related Disorders Study, Group; Simonati, Alessandro; Bertini, E.; Dallapiccola, B.; Gleeson, J. G. | |
| PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron | 1-gen-2006 | Morgan, N. V.; Westaway, S. K.; Morton, J. E.; Gregory, A.; Gissen, P.; Sonek, S.; Cangul, H.; Coryell, J.; Canham, N.; Nardocci, N.; Zorzi, G.; Pasha, S.; Rodriguez, D.; Desguerre, I.; Mubaidin, A.; Bertini, E.; Trembath, R. C.; Simonati, Alessandro; Schanen, C.; Johnson, C. A.; Levinson, B.; Woods, C. G.; Wilmot, B.; Kramer, P.; Gitschier, J.; Maher, R.; Hayflick, S. J. | |
| Protein glutathionylation in human central nervous system: potential role in redox regulation of neuronal defense against free radicals | 1-gen-2006 | Sparaco, M.; Gaeta, L. M.; Tozzi, G.; Bertini, E.; Pastore, A.; Simonati, Alessandro; Santorelli, F. M.; Piemonte, F. | |
| Neuronal-specific roles of the survival motor neuron protein: evidence from survival motor neuron expression patterns in the developing human central nervous system. | 1-gen-2006 | Giavazzi, A.; Setola, V.; Simonati, Alessandro; Battaglia, G. |
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