Search Results - "Vazza, G."

The GIP/GIPR axis is functionally linked to GH-secretion increase in a significant proportion of gsp− somatotropinomas by Regazzo, D, Losa, M, Albiger, N M, Terreni, M R, Vazza, G, Ceccato, F, Emanuelli, E, Denaro, L, Scaroni, C, Occhi, G

“…Objective Glucose-dependent insulinotropic polypeptide receptor (GIPR) overexpression has been recently described in a proportion of gsp− somatotropinomas and…”
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Rare Risk Variants Identification by Identity-by-Descent Mapping and Whole-Exome Sequencing Implicates Neuronal Development Pathways in Schizophrenia and Bipolar Disorder by Salvoro, C., Bortoluzzi, S., Coppe, A., Valle, G., Feltrin, E., Mostacciuolo, M. L., Vazza, G.

“…Schizophrenia (SCZ) and bipolar disorder (BPD) are highly heritable disorders with an estimated co-heritability of 68%. Hundreds of common alleles have been…”
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Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample by Mostacciuolo, ML, Pastorello, E, Vazza, G, Miorin, M, Angelini, C, Tomelleri, G, Galluzzi, G, Trevisan, CP

“…Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disease associated with a partial deletion on chromosome 4q35. Few relevant…”
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A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy by Gregianin, E., Vazza, G., Scaramel, E., Boaretto, F., Vettori, A., Leonardi, E., Tosatto, S. C. E., Manara, R., Pegoraro, E., Mostacciuolo, M. L.

“…Background and purpose Mutations in the SACS gene are commonly associated with autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS), a complex…”
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P.12.2 Dominant distal myopathy due to slow channelopathy by Angelini, C, Vazza, G, Mostacciuolo, M.L

“…Slow channel syndrome, first recognized by Engel in 1982, has distinct phenotypic features, dominant inheritance, selective weakness of cervical scapular and…”
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High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites by Manno, N., Sherratt, S., Boaretto, F., Coico, F. Mejìa, Camus, C. Espinoza, Campos, C. Jara, Musumeci, S., Battisti, A., Quinnell, R.J., León, J. Mostacero, Vazza, G., Mostacciuolo, M.L., Paoletti, M.G., Falcone, F.H.

“…•Catalytic deficiency of chitotriosidase has a very high frequency in Amerindians highly exposed to chitin from enteroparasites and diet.•Mutation frequencies…”
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SEVERE CMT TYPE 2 WITH FATAL ENCEPHALOPATHY ASSOCIATED WITH A NOVEL MFN2 SPLICING MUTATION by BOARETTO, F, VETTORI, A, MOSTACCIUOLO, M. L, MARTINUZZI, A, CASARIN, A, VAZZA, G, MUGLIA, M, ROSSETTO, M. G, CAVALLARO, T, RIZZUTO, N, CARELLI, V, SALVIATI, L

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Genome-wide scan supports the existence of a susceptibility locus for schizophrenia and bipolar disorder on chromosome 15q26 by VAZZA, G, BERTOLIN, C, SCUDELLARO, E, VETTORI, A, BOARETTO, F, RAMPINELLI, S, DE SANCTIS, G, PERINI, G, PERUZZI, P, MOSTACCIUOLO, M. L

“…Schizophrenia (SZ) and bipolar disorder (BPD) are two severe psychiatric diseases with a strong genetic component. In agreement with the 'continuum theory',…”
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A Locus for Migraine without Aura Maps on Chromosome 14q21.2-q22.3 by Soragna, D., Vettori, A., Carraro, G., Marchioni, E., Vazza, G., Bellini, S., Tupler, R., Savoldi, F., Mostacciuolo, M.L.

“…Migraine is a common and disabling neurological disease of unknown origin characterized by a remarkable clinical variability. It shows strong familial…”
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A novel founder mutation in the MFN2 gene associated with variable Charcot–Marie–Tooth type 2 phenotype in two families from Southern Italy by Muglia, M, Vazza, G, Patitucci, A, Milani, M, Pareyson, D, Taroni, F, Quattrone, A, Mostacciuolo, M L

“…Recently, mutations in the mitochondrial fusion protein 2 (MFN2) gene were reported in families with CMT2A 1 and additional mutations have been detected in…”
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Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28 by Vazza, G., Picelli, S., Bozzato, A., Mostacciuolo, M.L.

“…This study reports the characterization of a novel human gene, chromosome 3 open reading frame 6 ( C3orf6), mapped to chromosome 3q28, within the critical…”
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A New Locus for Autosomal Recessive Spastic Paraplegia Associated with Mental Retardation and Distal Motor Neuropathy, SPG14, Maps to Chromosome 3q27-q28 by Vazza, G., Zortea, M., Boaretto, F., Micaglio, G.F., Sartori, V., Mostacciuolo, M.L.

“…Hereditary spastic paraplegias (HSPs), a group of neurodegenerative disorders that cause progressive spasticity of the lower limbs, are characterized by…”
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A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset by Vazza, G., Merlini, L., Bertolin, C., Zortea, M., Mostacciuolo, M.L.

“…X-linked Charcot-Marie-Tooth disease is the second most common variant of CMT. CMTX1 is caused by mutations in the GJB1 gene encoding for connexin 32. We…”
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Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1 by Zortea, M, Vettori, A, Trevisan, C P, Bellini, S, Vazza, G, Armani, M, Simonati, A, Mostacciuolo, M L

“…It has been suggested that a genetic factor(s) or a familial predisposition may contribute to the clinical manifestations of disc herniation; moreover, no…”
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Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity by Mostacciuolo, M.L, Rampoldi, L, Righetti, E, Vazza, G, Schiavon, F, Angelini, C

“…Hereditary motor and sensory neuropathy type V is a very rare disease in which hereditary spastic paraplegia is associated with peripheral motor and sensory…”
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The GIP/GIPR axis is functionally linked to GH-secretion increase in a significant proportion of gsp^sup -^ somatotropinomas by Regazzo, D, Losa, M, Albiger, N M, Terreni, M R, Vazza, G, Ceccato, F, Emanuelli, E, Denaro, L, Scaroni, C, Occhi, G

“…Objective Glucose-dependent insulinotropic polypeptide receptor (GIPR) overexpression has been recently described in a proportion of gsp- somatotropinomas and…”
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Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations by Méreaux, Jean-Loup, Firanescu, Cristina, Coarelli, Giulia, Kvarnung, Malin, Rodrigues, Rita, Pegoraro, Elena, Tazir, Meriem, Taithe, Frédéric, Valter, Rémi, Huin, Vincent, Lidström, Kristina, Banneau, Guillaume, Morais, Sara, Parodi, Livia, Coutelier, Marie, Papin, Mélanie, Svenningsson, Per, Azulay, Jean-Philippe, Alonso, Isabel, Nilsson, Daniel, Brice, Alexis, Le Guern, Eric, Press, Rayomand, Vazza, Giovanni, Loureiro, José Leal, Goizet, Cyril, Durr, Alexandra, Paucar, Martin, Stevanin, Giovanni

“…Spastic ataxias are rare neurogenetic disorders involving spinocerebellar and pyramidal tracts. Many genes are involved. Among them, CAPN1 , when mutated, is…”
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Distal hereditary motor neuropathy (DHMN): a new locus for an autosomal recessive form by Mostacciuolo, ML, Crestanello, E, Boaretto, F, Boscolo, E, Liguori, M, Tessarolo, D, Vettori, A, Vazza, G

“…Distal hereditary motor neuropathy (dHMN), also known as the spinal form of Charcot‐Marie‐Tooth (spinal CMT) disease or as distal spinal muscular atrophy…”
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A novel founder mutation in the MFN2 gene associated with variable Charcot–Marie–Tooth type 2 phenotype in two families from Southern Italy by Muglia, Maria, Vazza, Giovanni, Patitucci, Alessandra, Milani, Micaela, Pareyson, Davide, Taroni, Franco, Quattrone, Aldo, Mostacciuolo, Maria Luisa

“…Charcot–Marie–Tooth (CMT) disease is the most common hereditary neuropathy. CMT falls into two main forms: the demyelinating CMT type 1 with decreased nerve…”
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RICERCHE DI CINEMATICA STORICA. IL MOVIMENTO DEI PREZZI IN GENOVA DAL 1845 AL 1905 by Vazza, G, Petris, N De, Versetti, P, naci, T

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