Sfoglia per Autore
Neuronal intranuclear inclusion disease: Polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case
1996-01-01 Malandrini, A.; Fabrizi, G. M.; Cavallaro, T.; Zazzi, M.; Parrotta, E.; Romano, L.; Berti, G.; Villanova, M.; Guazzi, G. C.
The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause a MERFF syndrome.
1996-01-01 Fabrizi, Gian Maria; Cardaioli, E.; Grieco, G. S.; Cavallaro, Tiziana; Malandrini, A.; Manneschi, L.; Dotti, M. T.; Federico, A.; Guazzi, G. C.
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities.
1996-01-01 Malandrini, A.; Cesaretti, S.; Mulinari, M.; Palmeri, S.; Fabrizi, G. M.; Villanova, M.; Parrotta, E.; Montagnani, A.; Anichini, M.; Guazzi, G. C.
Clinicopathological study of familial late infantile Hallervorden-Spatz disease: a particular form of neuroacanthocytosis.
1996-01-01 Malandrini, A.; Fabrizi, Gian Maria; Bartalucci, P.; Salvadori, C.; Berti, G.; Sabo, C.; Guazzi, G. C.
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy
1996-01-01 Malandrini, A.; Carrera, P.; Palmeri, S.; Cavallaro, T.; Fabrizi, Gian Maria; Villanova, M.; Fattaposta, M.; Vismara, L.; Brancolini, V.; Tanganelli, P.; Cali, A.; Morocutti, C.; Zeviani, M.; Ferrari, M.; Guazzi, G. C.
Chorea-acanthocytosis: genetic linkage to chromosome 9q21
1997-01-01 Rubio, J. P.; Danek, A.; Stone, C.; Chalmers, R.; Wood, N.; Verellen, C.; Ferrer, X.; Malandrini, A.; Fabrizi, G. M.; Manfredi, M.; Vance, J.; Pericak-Vance, M.; Brown, R.; Rudolf, G.; Picard, F.; Alonso, E.; Brin, M.; Nemeth, A. H.; Farrall, M.; Monaco, A. P.
Multiple sclerosis associated with duplicated CMT1A: a report of two cases
1997-01-01 E., Frasson; A., Polo; A., Di Summa; Fabrizi, Gian Maria; Taioli, Federica; Fiaschi, Antonio; Rizzuto, Nicolo'; G., Moretto
Juvenile Leigh syndrome with protracted course presenting as chronic sensory motor neuropathy, ataxia, deafness and retinitis pigmentosa: a clinicopathological report
1998-01-01 Malandrini, A.; Palmeri, S.; Fabrizi, G. M.; Villanova, M.; Berti, G.; Salvadori, C.; Gardini, G.; Motti, L.; Solime, F.; Guazzi, G. C.
Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases
1998-01-01 Fabrizi, Gian Maria; Simonati, Alessandro; Morbin, M.; Cavallaro, T.; Taioli, Federica; Benedetti, M. D.; Edomi, P.; Rizzuto, Nicolo'
Simultaneus occurence of spongiform encephalopathy in a man and his cat in Italy
1998-01-01 Zanusso, Gianluigi; Nardelli, E.; Rosati, A.; Fabrizi, Gian Maria; Ferrari, Sergio; Carteri, A.; De Simone, F.; Rizzuto, Nicolo'; Monaco, Salvatore
Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family.
1999-01-01 Casali, C.; Fabrizi, Gian Maria; Santorelli, F. M.; Colazza, G.; Villanova, M.; Dotti, M. T.; Cavallaro, T.; Cardaioli, E.; Battisti, C.; Manneschi, L.; Di Gennaro, G. C.; Fortini, D; Spadaro, M.; Morocutti, C.; Federico, A.
Novel mutation of the P0 extracellular domain causes a Dejerine-Sottas syndrome
1999-01-01 Fabrizi, Gian Maria; Cavallaro, T.; Morbin, M.; Simonati, Alessandro; Taioli, Federica; Rizzuto, Nicolo'
Guidelines for the diagnosis of Charcot-Marie-Tooth disease and related neuropathies.
1999-01-01 Crespi, V.; Fabrizi, G. M.; Mandich, P.; Pareyson, D.; Besta, C.; Salvi, F.; Santoro, L.; Schenone, A.; Taroni, F.
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22
1999-01-01 Simonati, Alessandro; Fabrizi, Gian Maria; Pasquinelli, A.; Taioli, Federica; Cavallaro, T.; Morbin, M.; Marcon, G.; Papini, M.; Rizzuto, Nicolo'
Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22
1999-01-01 Fabrizi, Gian Maria; Cavallaro, T.; Taioli, Federica; Orrico, D.; Morbin, M.; Simonati, Alessandro; Rizzuto, Nicolo'
I quadri neuropatologici delle sindromi paraneoplastiche
2000-01-01 Rizzuto, Nicolo'; Cavallaro, Tiziana; Fabrizi, Gian Maria
X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32
2000-01-01 Fabrizi, Gian Maria; A., Polo; Cavallaro, Tiziana; C., Pinardi; Taioli, Federica; C., Corrà; Rizzuto, Nicolo'
Triplet nucleotide repeats: the spinocerebellar ataxias.
2000-01-01 Rizzuto, Nicolo'; Fabrizi, Gian Maria
Congenital hypomyelination neuropathy with a novel mutation of PMP22
2000-01-01 Rigatelli, F.; Fabrizi, Gian Maria; Simonati, Alessandro; Cavallaro, Tiziana; Ferrarini, Moreno; Taioli, Federica; Mostacciuolo, M. L.; Rizzuto, Nicolo'
Heteroplasmy of the A3243G transition of mitochondrial tRNA(Leu(UUR)) in a MELAS case and in a 25-week-old miscarried fetus.
2000-01-01 Cardaioli, E.; Fabrizi, Gian Maria; Grieco, G. S.; Dotti, M. T.; Federico, A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Neuronal intranuclear inclusion disease: Polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case | 1-gen-1996 | Malandrini, A.; Fabrizi, G. M.; Cavallaro, T.; Zazzi, M.; Parrotta, E.; Romano, L.; Berti, G.; Villanova, M.; Guazzi, G. C. | |
| The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause a MERFF syndrome. | 1-gen-1996 | Fabrizi, Gian Maria; Cardaioli, E.; Grieco, G. S.; Cavallaro, Tiziana; Malandrini, A.; Manneschi, L.; Dotti, M. T.; Federico, A.; Guazzi, G. C. | |
| Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities. | 1-gen-1996 | Malandrini, A.; Cesaretti, S.; Mulinari, M.; Palmeri, S.; Fabrizi, G. M.; Villanova, M.; Parrotta, E.; Montagnani, A.; Anichini, M.; Guazzi, G. C. | |
| Clinicopathological study of familial late infantile Hallervorden-Spatz disease: a particular form of neuroacanthocytosis. | 1-gen-1996 | Malandrini, A.; Fabrizi, Gian Maria; Bartalucci, P.; Salvadori, C.; Berti, G.; Sabo, C.; Guazzi, G. C. | |
| Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy | 1-gen-1996 | Malandrini, A.; Carrera, P.; Palmeri, S.; Cavallaro, T.; Fabrizi, Gian Maria; Villanova, M.; Fattaposta, M.; Vismara, L.; Brancolini, V.; Tanganelli, P.; Cali, A.; Morocutti, C.; Zeviani, M.; Ferrari, M.; Guazzi, G. C. | |
| Chorea-acanthocytosis: genetic linkage to chromosome 9q21 | 1-gen-1997 | Rubio, J. P.; Danek, A.; Stone, C.; Chalmers, R.; Wood, N.; Verellen, C.; Ferrer, X.; Malandrini, A.; Fabrizi, G. M.; Manfredi, M.; Vance, J.; Pericak-Vance, M.; Brown, R.; Rudolf, G.; Picard, F.; Alonso, E.; Brin, M.; Nemeth, A. H.; Farrall, M.; Monaco, A. P. | |
| Multiple sclerosis associated with duplicated CMT1A: a report of two cases | 1-gen-1997 | E., Frasson; A., Polo; A., Di Summa; Fabrizi, Gian Maria; Taioli, Federica; Fiaschi, Antonio; Rizzuto, Nicolo'; G., Moretto | |
| Juvenile Leigh syndrome with protracted course presenting as chronic sensory motor neuropathy, ataxia, deafness and retinitis pigmentosa: a clinicopathological report | 1-gen-1998 | Malandrini, A.; Palmeri, S.; Fabrizi, G. M.; Villanova, M.; Berti, G.; Salvadori, C.; Gardini, G.; Motti, L.; Solime, F.; Guazzi, G. C. | |
| Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases | 1-gen-1998 | Fabrizi, Gian Maria; Simonati, Alessandro; Morbin, M.; Cavallaro, T.; Taioli, Federica; Benedetti, M. D.; Edomi, P.; Rizzuto, Nicolo' | |
| Simultaneus occurence of spongiform encephalopathy in a man and his cat in Italy | 1-gen-1998 | Zanusso, Gianluigi; Nardelli, E.; Rosati, A.; Fabrizi, Gian Maria; Ferrari, Sergio; Carteri, A.; De Simone, F.; Rizzuto, Nicolo'; Monaco, Salvatore | |
| Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family. | 1-gen-1999 | Casali, C.; Fabrizi, Gian Maria; Santorelli, F. M.; Colazza, G.; Villanova, M.; Dotti, M. T.; Cavallaro, T.; Cardaioli, E.; Battisti, C.; Manneschi, L.; Di Gennaro, G. C.; Fortini, D; Spadaro, M.; Morocutti, C.; Federico, A. | |
| Novel mutation of the P0 extracellular domain causes a Dejerine-Sottas syndrome | 1-gen-1999 | Fabrizi, Gian Maria; Cavallaro, T.; Morbin, M.; Simonati, Alessandro; Taioli, Federica; Rizzuto, Nicolo' | |
| Guidelines for the diagnosis of Charcot-Marie-Tooth disease and related neuropathies. | 1-gen-1999 | Crespi, V.; Fabrizi, G. M.; Mandich, P.; Pareyson, D.; Besta, C.; Salvi, F.; Santoro, L.; Schenone, A.; Taroni, F. | |
| Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22 | 1-gen-1999 | Simonati, Alessandro; Fabrizi, Gian Maria; Pasquinelli, A.; Taioli, Federica; Cavallaro, T.; Morbin, M.; Marcon, G.; Papini, M.; Rizzuto, Nicolo' | |
| Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22 | 1-gen-1999 | Fabrizi, Gian Maria; Cavallaro, T.; Taioli, Federica; Orrico, D.; Morbin, M.; Simonati, Alessandro; Rizzuto, Nicolo' | |
| I quadri neuropatologici delle sindromi paraneoplastiche | 1-gen-2000 | Rizzuto, Nicolo'; Cavallaro, Tiziana; Fabrizi, Gian Maria | |
| X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32 | 1-gen-2000 | Fabrizi, Gian Maria; A., Polo; Cavallaro, Tiziana; C., Pinardi; Taioli, Federica; C., Corrà; Rizzuto, Nicolo' | |
| Triplet nucleotide repeats: the spinocerebellar ataxias. | 1-gen-2000 | Rizzuto, Nicolo'; Fabrizi, Gian Maria | |
| Congenital hypomyelination neuropathy with a novel mutation of PMP22 | 1-gen-2000 | Rigatelli, F.; Fabrizi, Gian Maria; Simonati, Alessandro; Cavallaro, Tiziana; Ferrarini, Moreno; Taioli, Federica; Mostacciuolo, M. L.; Rizzuto, Nicolo' | |
| Heteroplasmy of the A3243G transition of mitochondrial tRNA(Leu(UUR)) in a MELAS case and in a 25-week-old miscarried fetus. | 1-gen-2000 | Cardaioli, E.; Fabrizi, Gian Maria; Grieco, G. S.; Dotti, M. T.; Federico, A. |
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