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Data di pubblicazione Titolo Autore(i) File
1-gen-2014 Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions Lattante, Serena; Le Ber, I; Galimberti, D; Serpente, M; Rivaud Péchoux, S; Camuzat, A; Clot, F; Fenoglio, C; Scarpini, E; Brice, A; Kabashi, E.
1-gen-2001 Deletion of murine smn exon 7 directed to skeletal muscle leads to severe muscular dystrophy Cifuentes Diaz, C; Frugier, T; Tiziano, Francesco Danilo; Lacene, E; Roblot, N; Joshi, V; Moreau, M; Melki, J.
1-gen-1996 Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family Zappata, S; Tiziano, Francesco Danilo; Neri, Giovanni; Brahe, Cristina Beate
1-gen-1999 Detection of the survival motor neuron (SMN) genes by FISH: Further evidence for a role for SMN2 in the modulation of disease severity in SMA patients Vitali, Tiziana; Sossi, V; Tiziano, Francesco Danilo; Zappata, S; Giuli, A; Paravatou Petsotas, M; Neri, Giovanni; Brahe, Cristina Beate
1-gen-2014 DNA fingerprinting secondary transfer from different skin areas: Morphological and genetic studies Zoppis, S; Muciaccia, B; D'Alessio, Alessio; Ziparo, E; Vecchiotti, C; Filippini, A.
1-gen-2014 Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS Silvestri, Gabriella; Masciullo, Marcella; Modoni, Anna; Bianchi, Maria Laura Ester; Santorelli, Filippo
1-gen-2003 Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia Lastella, Patrizia; Sabba', Carlo; Lenato, Gennaro Maria; Resta, Nicoletta; Lattanzi, Wanda; Gallitelli, Mauro; Cirulli, Annalisa; Guanti, Ginevra
1-gen-2015 Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. Van Der Velde, Kj; Kuiper, J; Thompson, Ba; Plazzer, Jp; Van Valkenhoef, G; De Haan, M; Jongbloed, Jd; Wijmenga, C; De Koning, Tj; Abbott, Km; Sinke, R; Spurdle, Ab; Macrae, F; Genuardi, Maurizio; Sijmons, Rh; Swertz, Ma
1-gen-2012 Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study Crawford, To; Paushkin, Sv; Kobayashi, Dt; Forrest, Sj; Joyce, Cl; Finkel, Rs; Kaufmann, P; Swoboda, Kj; Tiziano, Francesco Danilo; Lomastro, Rosa; Li, Rh; Trachtenberg, Fl; Plasterer, T; Chen, Ks
1-gen-1996 Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I Brahe, Cristina Beate; Clermont, O; Zappata, S; Tiziano, Francesco Danilo; Melki, J; Neri, Giovanni
1-gen-2018 Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes. Ravegnini, G; Quero, Giuseppe; Sammarini, G; Giustiniani, Maria Cristina; Castri, Federica; Pomponi, Maria Grazia; Angelini, S; Alfieri, Sergio; Genuardi, Maurizio; Zamboni, G; Ricci, R.
1-gen-1999 Gene targeting restricted to mouse striated muscle lineage. Miniou, P; Tiziano, Francesco Danilo; Frugier, T; Roblot, N; Le, Meur; M, Melki
1-gen-2013 Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians Sijmons, R; Greenblatt, M; Genuardi, Maurizio
1-gen-2015 Genetic Engineering of Dystroglycan in Animal Models of Muscular Dystrophy Sciandra, Francesca; Bigotti, Maria Giulia; Giardina, Bruno; Bozzi, Manuela; Brancaccio, Andrea
1-gen-2018 HIV-1 non-R5 tropism correlates with a larger size of the cellular viral reservoir and a detectable residual viremia in patients under suppressive ART Lombardi, Francesca; Belmonti, Simone; Rapone, Lucrezia; Borghetti, Alberto; Ciccullo, Arturo; Gagliardini, Roberta; Baldin, Gianmaria; Montagnani, Francesca; Moschese, Davide; Emiliozzi, Arianna; Rossetti, Barbara; De Luca, Andrea; Di Giambenedetto, Simona
1-gen-2014 hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes Le Ber, I; Van Bortel, I; Nicolas, G; Bouya Ahmed, K; Camuzat, A; Wallon, D; De Septenville, A; Latouche, M; Lattante, Serena; Kabashi, E; Jornea, L; Hannequin, D; Brice, A.
1-gen-2014 Homozygous TREM2 mutation in a family with atypical frontotemporal dementia Le Ber, I; De Septenville, A; Guerreiro, R; Bras, J; Camuzat, A; Caroppo, P; Lattante, Serena; Couarch, P; Kabashi, E; Bouya Ahmed, K; Dubois, B; Brice, A.
1-gen-2014 Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor Gasparotto, D; Rossi, S; Campagna, D; Scavina, P; Tiziano, Francesco Danilo; Marzotto, A; Toffolatti, L; Vitelli, Ce; Amini, M; Dei Tos, Ap; Maestro, R.
1-gen-2021 Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization Tabolacci, Elisabetta; Molinario, C; Marangi, Giuseppe; Nobile, Veronica; Arena, Vincenzo; Mendes, Mi; Smith, Dec; Salomons, Gs; Tana, Milena; Costa, S; Vento, Giovanni; Genuardi, Maurizio
1-gen-2009 Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2 Neilson, De; Adams, Md; Orr, Cmd; Schelling, Dk; Eiben, Rm; Kerr, Ds; Anderson, J; Bassuk, Ag; Bye, Am; Childs, A; Clarke, A; Crow, Yj; Di Rocco, M; Dohna Schwake, C; Dueckers, G; Fasano, Ae; Gika, Ad; Gionnis, D; Gorman, Mp; Grattan Smith, Pj; Hackenberg, A; Kuster, A; Lentschig, Mg; Lopez Laso, E; Marco, Ej; Mastroyianni, S; Perrier, J; Schmitt Mechelke, T; Servidei, Serenella; Skardoutsou, A; Uldall, P; Van Der Knaap, Ms; Goglin, Kc; Tefft, Dl; Aubin, C; De Jager, P; Hafler, D; Warman, Ml
Mostrati risultati da 17 a 36 di 73
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