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A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing 1-gen-2012 Solda', G; Robusto, M; Primignani, P; Castorina, P; Benzoni, E; Cesarani, A; Ambrosetti, U; Asselta, R; Duga, S
SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population 1-gen-2012 Trotta, L; Guella, I; Soldà, G; Sironi, F; Tesei, S; Canesi, M; Pezzoli, G; Goldwurm, S; Duga, S; Asselta, R
Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene 1-gen-2013 Costantino, L.; Rusconi, D.; Solda', G.; Seia, M.; Paracchini, V.; Porcaro, L.; Asselta, R.; Colombo, C.; Duga, S.
Dual Role of G-runs and hnRNP F in the Regulation of a Mutation-Activated Pseudoexon in the Fibrinogen Gamma-Chain Transcript 1-gen-2013 Rimoldi, V; Solda, G; Asselta, R; Spena, S; Stuani, C; Buratti, E; Duga, S
No association of GBA mutations and multiple system atrophy 1-gen-2013 Srulijes, K.; Hauser, A. K.; Guella, I.; Asselta, R.; Brockmann, K.; Schulte, C.; Soldà, G.; Cilia, R.; Maetzler, W.; Schols, L.; Wenning, G. K.; Poewe, W.; Barone, P.; Wüllner, U.; Oertel, W.; Berg, D.; Goldwurm, S.; Gasser, T.
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. 1-gen-2014 Paraboschi, E; Rimoldi, V; Soldà, G; Tabaglio, T; Dall'Osso, C; Saba, E; Vigliano, M; Salviati, A; Leone, M; Benedetti, Md; Fornasari, D; Saarela, J; De Jager, Pl; Patsopoulos, Na; D'Alfonso, S; Gemmati, D; Duga, S; Asselta, R.
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II 1-gen-2014 Rimoldi, V.; Straniero, L.; Asselta, R.; Mauri, L.; Manfredini, E.; Penco, S.; Gesu, G. P.; Del Longo, A.; Piozzi, E.; Solda', G.; Primignani, P.
Improving mRNA 5′ coding sequence determination in the mouse genome 1-gen-2014 Piovesan, A; Caracausi, M; Pelleri, Mc; Vitale, L; Martini, S; Bassani, C; Gurioli, A; Casadei, R; Solda', G; Strippoli, P
Glucocerebrosidase mutations in primary parkinsonism 1-gen-2014 Asselta, R; Rimoldi, V; Siri, C; Cilia, R; Guella, I; Tesei, S; Solda', G; Pezzoli, G; Duga, S; Goldwurm, S
Next-generation sequencing analysis of miRNA expression in control and FSHD myogenesis 1-gen-2014 Colangelo, V; François, S; Solda', G; Picco, R; Roma, F; Ginelli, E; Meneveri, R.
Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency 1-gen-2015 Asselta, R; Platè, M; Robusto, M; Borhany, M; Guella, I; Solda', G; Afrasiabi, A; Menegatti, M; Shamsi, T; Peyvandi, F; Duga, S
Meta-analysis of Multiple Sclerosis microarray data reveals dysregulation in RNA splicing regulatory genes 1-gen-2015 Paraboschi, E; Cardamone, G; Rimoldi, V; Gemmati, D; Spreafico, M; Duga, S; Solda, G; Asselta, R
TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations 1-gen-2015 Pensato, V; Tiloca, C; Corrado, L; Bertolin, C; Sardone, V; Del Bo, R; Calini, D; Mandrioli, J; Lauria, G; Mazzini, L; Querin, G; Ceroni, M; Cantello, R; Corti, S; Castellotti, B; Solda, G; Duga, S; Comi, Gp; Cereda, C; Soraru', G; D'Alfonso, S; Taroni, F; Shaw, Ce; Landers, Je; Ticozzi, N; Ratti, A; Gellera, C; Silani, V; Slagen, Consortium.
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy 1-gen-2015 Robusto, M; Fang, M; Asselta, R; Castorina, P; Previtali, Sc; Caccia, S; Benzoni, E; De Cristofaro, R; Yu, C; Cesarani, A; Liu, X; Li, W; Primignani, P; Ambrosetti, U; Xu, X; Duga, S; Solda', G.
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites 1-gen-2015 Straniero, L; Rimoldi, V; Solda, G; Mauri, L; Manfredini, E; Andreucci, E; Bargiacchi, S; Penco, S; Gesu, Gp; Del Longo, A; Piozzi, E; Asselta, R; Primignani, P
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis. *Shared first authorship 1-gen-2016 Straniero, L; Solda', G; Costantino, L; Seia, M; Melotti, P; Colombo, C; Asselta, R; Duga, S.
In-depth characterization of breast cancer tumor-promoting cell transcriptome by RNA sequencing and microarrays 1-gen-2016 Callari, M; Guffanti, A; Solda', G; Merlino, G; Fina, E; Brini, E; Moles, A; Cappelletti, V; Daidone, Mg.
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family 1-gen-2016 Solda, G; Caccia, S; Robusto, M; Chiereghin, C; Castorina, P; Ambrosetti, U; Duga, S; Asselta, R
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters 1-gen-2016 Cilia, R; Tunesi, S; Marotta, G; Cereda, E; Siri, C; Tesei, S; Zecchinelli, Al; Canesi, M; Mariani, Cb; Meucci, N; Sacilotto, G; Zini, M; Barichella, M; Magnani, C; Duga, S; Asselta, R; Solda', G; Seresini, A; Seia, M; Pezzoli, G; Goldwurm, S.
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. 1-gen-2017 Chiereghin, C; Robusto, M; Mastrangelo, A; Castorina, P; Montini, G; Giani, M; Duga, S; Asselta, R; Solda, G
Mostrati risultati da 41 a 60 di 91
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