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669 results on '"Galassi, G."'

157. Methodology for the evaluation of the reliability of passive systems

Author

D'Auria, F. and Galassi, G. M.

Subjects
Reliability of Passive systems, REPAS, failure of thermal-hydraulic systems, use of statistics, advanced nuclear reactors, REPAS, use of statistics, Reliability of Passive systems, failure of thermal-hydraulic systems, advanced nuclear reactors
Published
2000

159. Exome sequencing reveals VCP mutations as a cause of familial ALS

Author

Johnson, Jo, Mandrioli, J, Benatar, M, Abramzon, Y, Van Deerlin, Vm, Trojanowski, Jq, Gibbs, Jr, Brunetti, M, Gronka, S, Wuu, J, Ding, J, Mccluskey, L, Martinez Lage, M, Falcone, D, Hernandez, Dg, Arepalli, S, Chong, S, Schymick, Jc, Rothstein, J, Landi, Francesco Luigi, Wang, Y, Calvo, A, Mora, G, Sabatelli, Mario, Monsurrò, Mr, Battistini, S, Salvi, F, Spataro, R, Sola, P, Borghero, G, Galassi, G, Scholz, Sw, Taylor, Jp, Restagno, G, Chiò, A, Traynor, Bj, Sabatelli, Mario (ORCID:0000-0001-6635-4985), Johnson, Jo, Mandrioli, J, Benatar, M, Abramzon, Y, Van Deerlin, Vm, Trojanowski, Jq, Gibbs, Jr, Brunetti, M, Gronka, S, Wuu, J, Ding, J, Mccluskey, L, Martinez Lage, M, Falcone, D, Hernandez, Dg, Arepalli, S, Chong, S, Schymick, Jc, Rothstein, J, Landi, Francesco Luigi, Wang, Y, Calvo, A, Mora, G, Sabatelli, Mario, Monsurrò, Mr, Battistini, S, Salvi, F, Spataro, R, Sola, P, Borghero, G, Galassi, G, Scholz, Sw, Taylor, Jp, Restagno, G, Chiò, A, Traynor, Bj, and Sabatelli, Mario (ORCID:0000-0001-6635-4985)

Abstract

Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mutation in a pathologically proven case of ALS. VCP protein is essential for maturation of ubiquitin-containing autophagosomes, and mutant VCP toxicity is partially mediated through its effect on TDP-43 protein, a major constituent of ubiquitin inclusions that neuropathologically characterize ALS. Our data broaden the phenotype of IBMPFD to include motor neuron degeneration, suggest that VCP mutations may account for ∼1%-2% of familial ALS, and provide evidence directly implicating defects in the ubiquitination/protein degradation pathway in motor neuron degeneration.

Published
2010

161. Panda ISP 42: Relap5/m3.2.2 pre-test analysis

Author

D'Auria, F. and Galassi, G. M.

Subjects
PANDA, code validation OECD/NEA/CSNI, PANDA, experimental apparatus, ISP 42, code validation OECD/NEA/CSNI, blind calculation, blind calculation, ISP 42, experimental apparatus
Published
1999

169. Participation in the OECD/NEA/NSC TMI-1 PWR MSLB Benchmark - Phase 1: 0-D neutronics, Final Results

Author

Cappariello, Afredo, D'Auria, F., Galassi, G. M., and Bajs, Tomislav

Subjects
MSLB, three-dimensional neutron physics, reactor analysis, 3D-NK-TH coupling, three-dimensional neutron physics, coupling of cods, Three Mile Island NPP, reactor analysis, evaluation of core safety margin, MSLB, coupling of cods, evaluation of core safety margin, Three Mile Island NPP, 3D-NK-TH coupling
Published
1998

181. UMAE Application: Contribution to the OECD/CSNI UMS vol. 2

Author

D'Auria, F., Galassi, G. M., Belsito, Salvatore, Ingegneri, Maurizio, and Gatta, Piero

Subjects
UMS, UMS, UMAE, International project, OECD/NEA/CSNI, Uncertainty method qualification (demonstration of), International project, OECD/NEA/CSNI, UMAE, Uncertainty method qualification (demonstration of)
Published
1997

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