AJMAR, FRANCO
AJMAR, FRANCO
8 - DIPARTIMENTO DI NEUROSCIENZE, OFTALMOLOGIA E GENETICA (attivo dal 01/06/2002 al 18/07/2012)
17p11.2 duplication is a common finding in sporadic cases of charcot-marie-tooth type 1
1994-01-01 Mancardi, G. L.; Uccelli, A.; Bellone, E.; Sghirlanzoni, A.; Mandich, P.; Pareyson, D.; Schenone, A.; Abbruzzese, M.; Ajmar, F.
[Specific enzymatic amplification of a DNA region closely associated with Huntington chorea].
1990-01-01 G., Novelli; Mandich, Paola; A., Ruzzo; F., Mannello; Ajmar, Franco; B., Dallapiccola
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci.
2002-01-01 Bellone, Emilia; Rodolico, C.; Toscano, A.; DI MARIA, Emilio; Cassandrini, D.; Pizzuti, A.; Pigullo, S.; Mazzeo, A.; Macaione, V.; Girlanda, P.; Vita, G.; Ajmar, Franco; Mandich, Paola
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.
1999-01-01 Bellone, Emilia; DI MARIA, Emilio; Soriani, S; Varese, A; Doria, Ll; Ajmar, Franco; Mandich, Paola
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect
2004-01-01 DI MARIA, Emilio; Gulli, R.; Balestra, P.; Cassandrini, D.; Pigullo, S.; DORIA LAMBA, L.; Bado, M.; Schenone, Angelo; Ajmar, Franco; Mandich, Paola; Bellone, Emilia
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease
2004-01-01 Santoro, L.; Manganelli, F.; DI MARIA, Emilio; Bordo, D.; Cassandrini, D.; Ajmar, Franco; Mandich, Paola; Bellone, Emilia
Adult polycystic kidney disease: prenatal diagnosis with DNA polymorphic markers.
1991-01-01 Bellone, Emilia; Mandich, Paola; P., Costa; L., Dalerba; Ajmar, Franco
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP
2006-01-01 Bellone, Emilia; Balestra, P; Ribizzi, G; Schenone, Angelo; Zocchi, G; DI MARIA, Emilio; Ajmar, Franco; Mandich, Paola
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease
1994-01-01 Novelletto, A.; Persichetti, F.; Sabbadini, G.; Mandich, Paola; Bellone, Emilia; Ajmar, Franco; Pergola, M.; DEL SENNO, L.; MAC DONALD, M.; Gusella, J.; Frontali, M.
Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease.
1990-01-01 Mandich, Paola; G., Restagno; G., Novelli; Bellone, Emilia; L., Potenza; O., Varetto; B., Dallapiccola; A., Carbonara; Ajmar, Franco
Charcot-Marie-Tooth disease: evidence of a duplication at D17S122 locus.
1992-01-01 Mandich, Paola; Bellone, Emilia; Uccelli, Antonio; D., Pareyson; Ajmar, Franco
Clinical and genetic study of essential tremor in the Italian population.
2001-01-01 Abbruzzese, Giovanni; S., Pigullo; DI MARIA, Emilio; P., Martinelli; P., Barone; R., Marchese; C., Scaglione; A., Assini; C., Lucetti; A., Berardelli; S., Calzetti; Bellone, Emilia; Ajmar, Franco; Mandich, Paola
Comments on Davar et al., Pain, 67 (1996) 135-139.
1997-01-01 Mandich, Paola; Bellone, Emilia; M., Montera; Ajmar, Franco; Schenone, Angelo; L., Nobbio; Mancardi, GIOVANNI LUIGI; A., Pizzuti; A., Ratti; A. J., Windebank
Congenital hypomyelination (CH) due to myelin protein zero (P0) Q215X mutation
1999-01-01 Mandich, Paola; Mancardi, GIOVANNI LUIGI; Varese, A.; Soriani, S.; DI MARIA, Emilio; Bellone, Emilia; Bado, M.; Gross, L.; Windebank, A. J.; Ajmar, Franco; Schenone, Angelo
Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies
1997-01-01 Schenone, Angelo; Nobbio, L.; Caponetto, C.; Abbruzzese, Michele; Mandich, Paola; Bellone, Emilia; Ajmar, Franco; Gherardi, G.; Windebank, A. J.; Mancardi, GIOVANNI LUIGI
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy
2000-01-01 Tabaton, M; Vigo, T; Abbruzzese, G; Marchese, R; Bellone, E; Donati, C; Montagna, P; Marinelli, L; Zanusso, G; Frasson, E; Munoz, D; Pramstaller, P; Ajmar, F; Mandich, P
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy
2000-01-01 DI MARIA, Emilio; Tabaton, Massimo; Vigo, T.; Abbruzzese, Giovanni; Bellone, Emilia; Donati, C.; Frasson, E.; Marchese, R.; Montagna, P.; Munoz, D. G.; Pramstaller, P. P.; Zanusso, G.; Ajmar, Franco; Mandich, Paola
De novo duplication in Charcot-Marie Tooth type 1A.
1996-01-01 Mandich, Paola; Bellone, Emilia; Schenone, Angelo; Mancardi, GIOVANNI LUIGI; Abbruzzese, Michele; Ajmar, Franco
DNA marker analysis of adult polycystic kidney disease in Italian families. Italian Cooperative Group on ADPKD.
1989-01-01 L., Potenza; Mandich, Paola; G., Restagno; Bellone, Emilia; G., Novelli; B., Dallapiccola; Ajmar, Franco; A., Carbonara
Does parkin play a role in the peripheral nervous system? A family report
2004-01-01 Abbruzzese, Giovanni; Pigullo, S.; Schenone, Angelo; Bellone, Emilia; Marchese, R.; DI MARIA, Emilio; Benedetti, L.; Ciotti, P.; Nobbio, Lucilla; Bonifati, V.; Ajmar, Franco; Mandich, Paola
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
17p11.2 duplication is a common finding in sporadic cases of charcot-marie-tooth type 1 | 1-gen-1994 | Mancardi, G. L.; Uccelli, A.; Bellone, E.; Sghirlanzoni, A.; Mandich, P.; Pareyson, D.; Schenone, A.; Abbruzzese, M.; Ajmar, F. | |
[Specific enzymatic amplification of a DNA region closely associated with Huntington chorea]. | 1-gen-1990 | G., Novelli; Mandich, Paola; A., Ruzzo; F., Mannello; Ajmar, Franco; B., Dallapiccola | |
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci. | 1-gen-2002 | Bellone, Emilia; Rodolico, C.; Toscano, A.; DI MARIA, Emilio; Cassandrini, D.; Pizzuti, A.; Pigullo, S.; Mazzeo, A.; Macaione, V.; Girlanda, P.; Vita, G.; Ajmar, Franco; Mandich, Paola | |
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. | 1-gen-1999 | Bellone, Emilia; DI MARIA, Emilio; Soriani, S; Varese, A; Doria, Ll; Ajmar, Franco; Mandich, Paola | |
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect | 1-gen-2004 | DI MARIA, Emilio; Gulli, R.; Balestra, P.; Cassandrini, D.; Pigullo, S.; DORIA LAMBA, L.; Bado, M.; Schenone, Angelo; Ajmar, Franco; Mandich, Paola; Bellone, Emilia | |
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease | 1-gen-2004 | Santoro, L.; Manganelli, F.; DI MARIA, Emilio; Bordo, D.; Cassandrini, D.; Ajmar, Franco; Mandich, Paola; Bellone, Emilia | |
Adult polycystic kidney disease: prenatal diagnosis with DNA polymorphic markers. | 1-gen-1991 | Bellone, Emilia; Mandich, Paola; P., Costa; L., Dalerba; Ajmar, Franco | |
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP | 1-gen-2006 | Bellone, Emilia; Balestra, P; Ribizzi, G; Schenone, Angelo; Zocchi, G; DI MARIA, Emilio; Ajmar, Franco; Mandich, Paola | |
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease | 1-gen-1994 | Novelletto, A.; Persichetti, F.; Sabbadini, G.; Mandich, Paola; Bellone, Emilia; Ajmar, Franco; Pergola, M.; DEL SENNO, L.; MAC DONALD, M.; Gusella, J.; Frontali, M. | |
Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease. | 1-gen-1990 | Mandich, Paola; G., Restagno; G., Novelli; Bellone, Emilia; L., Potenza; O., Varetto; B., Dallapiccola; A., Carbonara; Ajmar, Franco | |
Charcot-Marie-Tooth disease: evidence of a duplication at D17S122 locus. | 1-gen-1992 | Mandich, Paola; Bellone, Emilia; Uccelli, Antonio; D., Pareyson; Ajmar, Franco | |
Clinical and genetic study of essential tremor in the Italian population. | 1-gen-2001 | Abbruzzese, Giovanni; S., Pigullo; DI MARIA, Emilio; P., Martinelli; P., Barone; R., Marchese; C., Scaglione; A., Assini; C., Lucetti; A., Berardelli; S., Calzetti; Bellone, Emilia; Ajmar, Franco; Mandich, Paola | |
Comments on Davar et al., Pain, 67 (1996) 135-139. | 1-gen-1997 | Mandich, Paola; Bellone, Emilia; M., Montera; Ajmar, Franco; Schenone, Angelo; L., Nobbio; Mancardi, GIOVANNI LUIGI; A., Pizzuti; A., Ratti; A. J., Windebank | |
Congenital hypomyelination (CH) due to myelin protein zero (P0) Q215X mutation | 1-gen-1999 | Mandich, Paola; Mancardi, GIOVANNI LUIGI; Varese, A.; Soriani, S.; DI MARIA, Emilio; Bellone, Emilia; Bado, M.; Gross, L.; Windebank, A. J.; Ajmar, Franco; Schenone, Angelo | |
Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies | 1-gen-1997 | Schenone, Angelo; Nobbio, L.; Caponetto, C.; Abbruzzese, Michele; Mandich, Paola; Bellone, Emilia; Ajmar, Franco; Gherardi, G.; Windebank, A. J.; Mancardi, GIOVANNI LUIGI | |
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy | 1-gen-2000 | Tabaton, M; Vigo, T; Abbruzzese, G; Marchese, R; Bellone, E; Donati, C; Montagna, P; Marinelli, L; Zanusso, G; Frasson, E; Munoz, D; Pramstaller, P; Ajmar, F; Mandich, P | |
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy | 1-gen-2000 | DI MARIA, Emilio; Tabaton, Massimo; Vigo, T.; Abbruzzese, Giovanni; Bellone, Emilia; Donati, C.; Frasson, E.; Marchese, R.; Montagna, P.; Munoz, D. G.; Pramstaller, P. P.; Zanusso, G.; Ajmar, Franco; Mandich, Paola | |
De novo duplication in Charcot-Marie Tooth type 1A. | 1-gen-1996 | Mandich, Paola; Bellone, Emilia; Schenone, Angelo; Mancardi, GIOVANNI LUIGI; Abbruzzese, Michele; Ajmar, Franco | |
DNA marker analysis of adult polycystic kidney disease in Italian families. Italian Cooperative Group on ADPKD. | 1-gen-1989 | L., Potenza; Mandich, Paola; G., Restagno; Bellone, Emilia; G., Novelli; B., Dallapiccola; Ajmar, Franco; A., Carbonara | |
Does parkin play a role in the peripheral nervous system? A family report | 1-gen-2004 | Abbruzzese, Giovanni; Pigullo, S.; Schenone, Angelo; Bellone, Emilia; Marchese, R.; DI MARIA, Emilio; Benedetti, L.; Ciotti, P.; Nobbio, Lucilla; Bonifati, V.; Ajmar, Franco; Mandich, Paola |