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Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France
2013 Lattante, Serena; Le Ber, I; Camuzat, A; Brice, A; Kabashi, E.
MUTYH c.933+3A > C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis
2013 Pin, E; Pastrello, C; Tricarico, R; Papi, L; Quaia, M; Fornasarig, M; Carnevali, I; Oliani, C; Fornasin, A; Agostini, M; Maestro, R; Barana, D; Aretz, S; Genuardi, Maurizio; Viel, A.
MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations
2014 Pecci, A; Klersy, C; Gresele, P; Lee, Kj; De Rocco, D; Bozzi, V; Russo, G; Heller, Pg; Loffredo, G; Ballmaier, M; Fabris, F; Beggiato, E; Kahr, Wh; Pujol Moix, N; Platokouki, H; Van Geet, C; Noris, P; Yerram, P; Hermans, C; Gerber, B; Economou, M; De Groot, M; Zieger, B; De Candia, Erica; Fraticelli, V; Kersseboom, R; Piccoli, Gb; Zimmermann, S; Fierro, T; Glembotsky, Ac; Vianello, F; Zaninetti, C; Nicchia, E; Güthner, C; Baronci, C; Seri, M; Knight, Pj; Balduini, Cl; Savoia, A.
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis
2016 Sabatelli, Mario; Marangi, Giuseppe; Conte, Amelia; Tasca, Giorgio; Zollino, Marcella; Lattante, Serena
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families
2021 Capoluongo, Ettore Domenico; De Matteis, Elisabetta; Cucinotto, I; Ronzino, G; Santonocito, Concetta; Tornesello, Assunta; De Giorgio, Mr; Lucci Cordisco, Emanuela; Minucci, Angelo; Genuardi, Maurizio
NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.
2015 Gurrieri, Fiorella; Cavaliere, Ml; Priolo, M; Wischmeijer, A; Mammì, C; Neri, G; Pisanti, Ma; Rodella, G; Laganà, C.
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy
2006 Cardaioli, E.; Gallus, G. N.; Da Pozzo, P.; Rufa, A.; Franceschini, R.; Motolese, E.; Caporossi, Aldo; Dotti, M. T.; Federico, A.
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy.
2000 Frugier, Tony; Tiziano, Francesco Danilo; Cifuentes Diaz, Carmen; Miniou, Pierre; Roblot, Natacha; Dierich, A; Le Meur, M; Melki, Judith
Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism
2014 Fornarino, S; Stagnaro, M; Rinelli, M; Tiziano, Francesco Danilo; Mancardi, Mm; Traverso, M; Veneselli, E; De Grandis, E.
PCR and sierology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism
2010 Satterfield, Bc; Garcia, Ra; Gurrieri, Fiorella; Schwartz, Charles
Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia.
2009 Chassaing, N; Golzio, C; Odent, S; Lequeux, L; Vigouroux, A; Martinovic Bouriel, L; Tiziano, Francesco Danilo; Masini, Lucia; Piro, F; Maragliano, G; Delezoide, Al; Attié Bitach, T; Manouvrier Hanu, S; Etchevers, Hc; Calvas, P.
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations
2015 Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Del Grande, Alessandra; Marangi, Giuseppe; Lucchini, Matteo; Mirabella, Massimiliano; Romano, Angela; Piacentini, Roberto; Bisogni, Giulia; Lattante, Serena; Luigetti, Marco; Rossini, Paolo Maria; Moncada, Alice
Refined characterization of the expression and stability of the SMN gene products
2007 Vitte, J; Fassier, C; Tiziano, Francesco Danilo; Dalard, C; Soave, S; Roblot, N; Brahe, Cristina Beate; Saugier Veber, P; Bonnefont, Jp; Melki, J.
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design.
2010 Tiziano, Francesco Danilo; Lomastro, Rosa; Pinto, Anna Maria; Messina, Sonia; D'Amico, Adele; Fiori, Stefania; Angelozzi, Carla; Pane, Marika; Mercuri, Eugenio Maria; Bertini, Enrico; Neri, Giovanni; Brahe, Cristina Beate
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes
2016 Urreizti, R; Roca Ayats, N; Trepat, J; Garcia Garcia, F; Aleman, A; Orteschi, Daniela; Marangi, Giuseppe; Neri, Giovanni; Opitz, Jm; Dopazo, J; Cormand, B; Vilageliu, L; Balcells, S; Grinberg, D.
Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients
2013 Lattante, Serena; Le Ber, I; Camuzat, A; Pariente, J; Brice, A; Kabashi, E.
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis
1999 Patrizi, Al; Tiziano, Francesco Danilo; Zappata, S; Donati, Ma; Neri, Giovanni; Brahe, Cristina Beate
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR.
2010 Tiziano, Francesco Danilo; Pinto, Anna Maria; Fiori, Stefania; Lomastro, Rosa; Messina, Sonia; Bruno, Claudio; Pini, Antonella; Pane, Marika; D'Amico, Adele; Ghezzo, Alessandro; Bertini, Enrico; Mercuri, Eugenio Maria; Neri, Giovanni; Brahe, Cristina Beate
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1
2015 Rubboli, G; Veggiotti, P; Pini, A; Berardinelli, A; Cantalupo, G; Bertini, E; Tiziano, Francesco Danilo; D'Amico, A; Piazza, E; Abiusi, Emanuela; Fiori, S; Pasini, E; Darra, F; Gobbi, G; Michelucci, R.
Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD
2015 Lattante, Serena; De Calbiac, H; Le Ber, I; Brice, A; Ciura, S; Kabashi, E.
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
1-gen-2013 | Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France | Lattante, Serena; Le Ber, I; Camuzat, A; Brice, A; Kabashi, E. | |
1-gen-2013 | MUTYH c.933+3A > C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis | Pin, E; Pastrello, C; Tricarico, R; Papi, L; Quaia, M; Fornasarig, M; Carnevali, I; Oliani, C; Fornasin, A; Agostini, M; Maestro, R; Barana, D; Aretz, S; Genuardi, Maurizio; Viel, A. | |
1-gen-2014 | MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations | Pecci, A; Klersy, C; Gresele, P; Lee, Kj; De Rocco, D; Bozzi, V; Russo, G; Heller, Pg; Loffredo, G; Ballmaier, M; Fabris, F; Beggiato, E; Kahr, Wh; Pujol Moix, N; Platokouki, H; Van Geet, C; Noris, P; Yerram, P; Hermans, C; Gerber, B; Economou, M; De Groot, M; Zieger, B; De Candia, Erica; Fraticelli, V; Kersseboom, R; Piccoli, Gb; Zimmermann, S; Fierro, T; Glembotsky, Ac; Vianello, F; Zaninetti, C; Nicchia, E; Güthner, C; Baronci, C; Seri, M; Knight, Pj; Balduini, Cl; Savoia, A. | |
1-gen-2016 | New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis | Sabatelli, Mario; Marangi, Giuseppe; Conte, Amelia; Tasca, Giorgio; Zollino, Marcella; Lattante, Serena | |
1-gen-2021 | A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families | Capoluongo, Ettore Domenico; De Matteis, Elisabetta; Cucinotto, I; Ronzino, G; Santonocito, Concetta; Tornesello, Assunta; De Giorgio, Mr; Lucci Cordisco, Emanuela; Minucci, Angelo; Genuardi, Maurizio | |
1-gen-2015 | NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. | Gurrieri, Fiorella; Cavaliere, Ml; Priolo, M; Wischmeijer, A; Mammì, C; Neri, G; Pisanti, Ma; Rodella, G; Laganà, C. | |
1-gen-2006 | A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy | Cardaioli, E.; Gallus, G. N.; Da Pozzo, P.; Rufa, A.; Franceschini, R.; Motolese, E.; Caporossi, Aldo; Dotti, M. T.; Federico, A. | |
1-gen-2000 | Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy. | Frugier, Tony; Tiziano, Francesco Danilo; Cifuentes Diaz, Carmen; Miniou, Pierre; Roblot, Natacha; Dierich, A; Le Meur, M; Melki, Judith | |
1-gen-2014 | Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism | Fornarino, S; Stagnaro, M; Rinelli, M; Tiziano, Francesco Danilo; Mancardi, Mm; Traverso, M; Veneselli, E; De Grandis, E. | |
1-gen-2010 | PCR and sierology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism | Satterfield, Bc; Garcia, Ra; Gurrieri, Fiorella; Schwartz, Charles | |
1-gen-2009 | Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia. | Chassaing, N; Golzio, C; Odent, S; Lequeux, L; Vigouroux, A; Martinovic Bouriel, L; Tiziano, Francesco Danilo; Masini, Lucia; Piro, F; Maragliano, G; Delezoide, Al; Attié Bitach, T; Manouvrier Hanu, S; Etchevers, Hc; Calvas, P. | |
1-gen-2015 | Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations | Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Del Grande, Alessandra; Marangi, Giuseppe; Lucchini, Matteo; Mirabella, Massimiliano; Romano, Angela; Piacentini, Roberto; Bisogni, Giulia; Lattante, Serena; Luigetti, Marco; Rossini, Paolo Maria; Moncada, Alice | |
1-gen-2007 | Refined characterization of the expression and stability of the SMN gene products | Vitte, J; Fassier, C; Tiziano, Francesco Danilo; Dalard, C; Soave, S; Roblot, N; Brahe, Cristina Beate; Saugier Veber, P; Bonnefont, Jp; Melki, J. | |
1-gen-2010 | Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. | Tiziano, Francesco Danilo; Lomastro, Rosa; Pinto, Anna Maria; Messina, Sonia; D'Amico, Adele; Fiori, Stefania; Angelozzi, Carla; Pane, Marika; Mercuri, Eugenio Maria; Bertini, Enrico; Neri, Giovanni; Brahe, Cristina Beate | |
1-gen-2016 | Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes | Urreizti, R; Roca Ayats, N; Trepat, J; Garcia Garcia, F; Aleman, A; Orteschi, Daniela; Marangi, Giuseppe; Neri, Giovanni; Opitz, Jm; Dopazo, J; Cormand, B; Vilageliu, L; Balcells, S; Grinberg, D. | |
1-gen-2013 | Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients | Lattante, Serena; Le Ber, I; Camuzat, A; Pariente, J; Brice, A; Kabashi, E. | |
1-gen-1999 | SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis | Patrizi, Al; Tiziano, Francesco Danilo; Zappata, S; Donati, Ma; Neri, Giovanni; Brahe, Cristina Beate | |
1-gen-2010 | SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. | Tiziano, Francesco Danilo; Pinto, Anna Maria; Fiori, Stefania; Lomastro, Rosa; Messina, Sonia; Bruno, Claudio; Pini, Antonella; Pane, Marika; D'Amico, Adele; Ghezzo, Alessandro; Bertini, Enrico; Mercuri, Eugenio Maria; Neri, Giovanni; Brahe, Cristina Beate | |
1-gen-2015 | Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1 | Rubboli, G; Veggiotti, P; Pini, A; Berardinelli, A; Cantalupo, G; Bertini, E; Tiziano, Francesco Danilo; D'Amico, A; Piazza, E; Abiusi, Emanuela; Fiori, S; Pasini, E; Darra, F; Gobbi, G; Michelucci, R. | |
1-gen-2015 | Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD | Lattante, Serena; De Calbiac, H; Le Ber, I; Brice, A; Ciura, S; Kabashi, E. |
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