Research Topics
Genomes and GenesSpecies | Lucia CorradoSummaryCountry: Italy Publications
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Detail Information
Publications
SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS)L Corrado
Department of Medical Sciences, University of Eastern Piedmont, Novara, Italy
Neuromuscul Disord 16:800-4. 2006..No association was found with intronic sequence variations by comparing their frequency in the patients and in 181 matched controls...
ATXN-2 CAG repeat expansions are interrupted in ALS patientsLucia Corrado
Department of Medical Sciences, Interdisciplinary Research Center of Autoimmune Diseases IRCAD, University of Eastern Piedmont, Via Solaroli, 17, 28100 Novara, Italy
Hum Genet 130:575-80. 2011..In conclusion, the findings of ATXN-2 expansions in pure ALS cases suggest that ALS may be a third phenotype (alongside ataxia/parkinsonism and pure Parkinson) associated with ATXN-2 interrupted alleles...
A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patientLucia Corrado
Department Medical Sciences, Interdisciplinary Research Center of Autoimmune Diseases, University of Eastern Piedmont, Novara, Italy
Neurobiol Aging 32:552.e1-6. 2011..This work contributes to determine the role of PRPH gene variants in ALS. Further studies are necessary to define the mechanisms through which the mutant peripherin could cause ALS phenotype...
Mutations of FUS gene in sporadic amyotrophic lateral sclerosisLucia Corrado
Department of Medical Sciences, Via Solaroli, 17, 28100 Novara, Italy
J Med Genet 47:190-4. 2010..Mutations in the FUS gene have recently been discovered to be a major cause of familial amyotrophic lateral sclerosis (FALS)...
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosisLucia Corrado
Department of Medical Sciences, Interdisciplinary Research Center of Autoimmune Diseases IRCAD, University of Eastern Piedmont, Novara, Italy
Hum Mutat 30:688-94. 2009..In conclusion, this report contributes to the demonstration of the causative role of the TARDBP gene in ALS pathogenesis and indicates that mutations may affect the stability of the protein even in nonneuronal tissues...
Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian populationLucia Corrado
Laboratory of Human Genetics, Department of Medical Sciences and IRCAD Interdisciplinary Research Center of Autoimmune Diseases, Eastern Piedmont University, Novara, Italy
J Neurol Sci 258:123-7. 2007..In conclusion, we did not detect the association with rs11701-G or with any other newly detected variation in the ANG regulatory region. Furthermore we did not identify potentially causal mutations in the coding region...
Association of osteopontin regulatory polymorphisms with systemic sclerosisNadia Barizzone
Department of Medical Sciences, A Avogadro University of Eastern Piedmont, Novara, Italy
Hum Immunol 72:930-4. 2011....
Association of HLA class I markers with multiple sclerosis in the Italian and UK population: evidence of two independent protective effectsLaura Bergamaschi
Department of Medical Sciences and Interdisciplinary Research Center of Autoimmune Diseases IRCAD, University of Eastern Piedmont, Novara, Italy
J Med Genet 48:485-92. 2011..The association of HLA A*02 with multiple sclerosis (MS) was recently confirmed by the authors, and it was observed that the combined presence of HLA Cw*05 significantly enhanced (threefold) the protective effect of HLA A*02...
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiencyMichela Godi
Laboratory of Human Genetics, Department of Medical Sciences and Interdisciplinary Research Center of Autoimmune Diseases, University of Eastern Piedmont, 28100 Novara, Italy
J Clin Endocrinol Metab 94:3939-47. 2009....
Association of the CBLB gene with multiple sclerosis: new evidence from a replication study in an Italian populationLucia Corrado
Department of Medical Sciences and Interdisciplinary Research Center of Autoimmune Diseases IRCAD, University of Eastern Piedmont, Novara, Italy
J Med Genet 48:210-1. 2011..The T allele of rs9657904 within the CBLB gene was recently found to be significantly associated with multiple sclerosis (MS) in a genome-wide association study in Sardinia...
