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Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene 1-gen-2003 Lee, Mj; Stephenson, Da; Groves, Mj; Sweeney, Mg; Davis, Mb; An, Sf; Houlden, H; Salih, Mam; Timmerman, V; DE JONGHE, P; AUER GRUMBACH, M; DI MARIA, Emilio; Scaravilli, F; Wood, Nw; Reilly, Mm
Essential tremor is not associated with alpha-synuclein gene haplotypes 1-gen-2003 Pigullo, S.; DI MARIA, Emilio; Marchese, R.; Bellone, Emilia; Gulli, R.; Scaglione, C.; Battaglia, S.; Barone, P.; Martinelli, P.; Abbruzzese, Giovanni; Ajmar, Franco; Mandich, Paola
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length 1-gen-2004 Brinkman, R. R.; Falush, D.; Paulsen, J. S.; Hayden, M. R.; ON BEHALF OF AN INTERNATIONAL HUNTINGTON'S DISEASE COLLABORATIVE, Group; DI MARIA, Emilio
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia 1-gen-2004 Ciotti, P; DI MARIA, Emilio; Bellone, Emilia; Ajmar, F; Mandich, Paola
Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study 1-gen-2004 DI MARIA, Emilio; Gulli, R; Begni, S; DE LUCA, A; Bignotti, S; Pasini, A; Bellone, Emilia; Pizzuti, A; Dallapiccola, B; Novelli, G; Ajmar, F; Gennarelli, M; Mandich, P.
Gene symbol: VHL. Disease: von Hippel-Lindau syndrome 1-gen-2004 Di Maria, E.; Ciotti, P.
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
Mutational analysis of parkin gene by denaturing high performance liquid chromatography (DHPLC) in essential tremor 1-gen-2004 Pigullo, S.; DE LUCA, A.; Barone, P.; Marchese, R.; Bellone, Emilia; Colosimo, A.; Scaglione, C.; Martinelli, P.; DI MARIA, Emilio; Pizzuti, A.; Abbruzzese, Giovanni; Dallapiccola, B.; Ajmar, Franco; Mandich, Paola
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
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
Juvenile renal cell carcinoma as first manifestation of von Hippel-Lindau disease 1-gen-2004 Granata, A; Sessa, A; Righetti, M; Cordaro, S; Leone, G; Figura, M; Fatuzzo, P; Rapisarda, F; DI MARIA, Emilio; Ciotti, P; Mandich, Paola; Nardo, A; Ferrone, M; Gallone, S; Liuzzo, G.
Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers 1-gen-2005 Ceravolo, R; Antonini, A; Volterrani, D; Rossi, C; Goldwurm, S; DI MARIA, Emilio; Kiferle, L; Bonuccelli, U; Murri, L.
Multifocal bilateral renal cell carcinoma and retinal angiomas in a patient with de novo von Hippel-Lindau disease: identification of a new germline mutation 1-gen-2005 Sessa, A.; Battini, G.; Meroni, M.; Pitingolo, F.; Righetti, M.; Ciotti, P.; DI MARIA, Emilio; Bellone, Emilia; Ajmar, Franco; Mandich, Paola
Screening for mutations in GJB1 gene in Italian patients with Charcot-Marie-Tooth disease (CMT). 1-gen-2006 Varese, ; M., Acquaviva; A., Geroldi; DI MARIA, Emilio; Mandich, Paola; Bellone, Emilia
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
No evidence of association between BDNF gene variants and age at onset of Huntington disease 1-gen-2006 DI MARIA, Emilio; Marasco, A.; Tartari, M.; Ciotti, P.; Abbruzzese, Giovanni; Novelli, G.; Bellone, Emilia; Cattaneo, E.; Mandich, Paola
A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study 1-gen-2007 Gulli, R; Masnata, B; Bonvicini, C; Tura, Gb; Manglaviti, L; Vaggi, M; Mollica, M; Bellone, Emilia; Mandich, Paola; Gennarelli, M; DI MARIA, Emilio
Recurrence of Mowat-Wilson Syndrome in siblings with a novel mutation in the ZEB2 Gene 1-gen-2008 Cecconi, M; Forzano, F; Garavelli, L; Pantaleoni, C; Grasso, M; DAGNA BRICARELLI, F; Perroni, L; DI MARIA, Emilio; Faravelli, F.
Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: Recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling 1-gen-2008 Viassolo, V.; Previtali, S. C.; Schiatti, G.; Magnani, G.; Minetti, C.; Zara, F.; Grasso, M.; Dagna-Bricarelli, F.; Di Maria, E.
A single nucleotide variant in the FMR1 CGG repeat results in a "pseudodeletion" and is not associated with the fragile X syndrome phenotype 1-gen-2008 Cecconi, M; Forzano, F; Rinaldi, R; Cappellacci, S; Grammatico, P; Faravelli, F; DAGNA BRICARELLI, F; DI MARIA, Emilio; Grasso, M.
Mostrati risultati da 21 a 40 di 101
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