Search Results - "SANGIORGI, Simonetta"

Mitochondrial optic neuropathies: how two genomes may kill the same cell type? by Carelli, Valerio, La Morgia, Chiara, Iommarini, Luisa, Carroccia, Rosanna, Mattiazzi, Marina, Sangiorgi, Simonetta, Farne', Sabrina, Maresca, Alessandra, Foscarini, Beatrice, Lanzi, Lucia, Amadori, Marcello, Bellan, Marzio, Valentino, Maria Lucia

“…Ocular involvement is a prevalent feature in mitochondrial diseases. Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA) are both…”
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Evidence of polymorphic CYP2C19 involvement in the human metabolism of N-desmethylclobazam by CONTIN, Manuela, SANGIORGI, Simonetta, RIVA, Roberto, PARMEGGIANI, Antonia, ALBANI, Fiorenzo, BARUZZI, Agostino

“…The authors report preliminary findings on the potential contribution of CYP2C19 isoenzyme to the human metabolism of N-desmethylclobazam (N-CLB), the main…”
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Unusual side-effects due to clobazam: a case report with genetic study of CYP2C19 by Parmeggiani, Antonia, Posar, Annio, Sangiorgi, Simonetta, Giovanardi-Rossi, Paola

“…We describe the case of a 10-year-old girl with two epileptic seizures and subcontinuous spike–waves during sleep, who presented unusual side-effects related…”
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Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter by PARMEGGIANI, Antonia, POSAR, Annio, BADIALI DE GIORGI, Lucilla, SANGIORGI, Simonetta, MOCHI, Mirella, MONARI, Lucia, PATRIZI, Annalisa, ROSSI, Paola Giovanardi

“…We describe a 11 year-old-boy with Sneddon syndrome, confirmed by skin biopsy, and MR evidence of diffuse cerebral hyperintensity of white matter; he also…”
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Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians by GHEZZI, Daniele, MARELLI, Cecilia, BONUCCELLI, Ubaldo, PETROZZI, Lucia, ABBRUZZESE, Giovanni, MARCHESE, Roberta, CORTELLI, Pietro, GRIMALDI, Daniela, MARTINELLI, Paolo, FERRARESE, Carlo, GARAVAGLIA, Barbara, SANGIORGI, Simonetta, ACHILLI, Alessandro, CARELLI, Valerio, TORRONI, Antonio, ALBANESE, Alberto, ZEVIANI, Massimo, GOLDWURM, Stefano, PEZZOLI, Gianni, BARONE, Paolo, PELLECCHIA, Maria Teresa, STANZIONE, Paolo, BRUSA, Livia, BENTIVOGLIO, Anna Rita

“…It has been proposed that European mitochondrial DNA (mtDNA) haplogroups J and K, and their shared 10398G single-nucleotide polymorphism (SNP) in the ND3 gene,…”
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Methyl-CpG-binding Protein 2 (MECP2) Gene Mutations in an Italian Sample of Patients with Pervasive Developmental Disorder and Mental Retardation by Parmeggiani, Antonia, Tedde, Maria Rita, Arbizzani, Annalisa, Posar, Annio, Scaduto, Maria Cristina, Santucci, Margherita, Sangiorgi, Simonetta

“…Methyl-CpG-binding protein 2 (MECP2) gene mutations have been identified in girls with Rett syndrome and in boys with heterogeneous neuropsychiatric disorders…”
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1 Screening of candidate nuclear genes for modifying role in Leber’s hereditary optic neuropathy penetrance: A signal from manganese superoxide dismutase by Maresca, Alessandra, Tagliavini, Francesca, Sangiorgi, Simonetta, Mendieta, Luana, Amadori, Marcello, Salomao, Solange, Carelli, Valerio

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Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy by Esposti, Mauro Degli, Carelli, Valerio, Ghelli, Anna, Ratta, Marina, Crimi, Massimo, Sangiorgi, Simonetta, Montagna, Pasquale, Lenaz, Giorgio, Lugaresi, Elio, Cortelli, Pietro

“…Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease associated with point mutations in mitochondrial DNA. The most frequent of these…”
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Heritability of cluster headache by Montagna, Pasquale, Mochi, Mirella, Prologo, Guido, Sangiorgi, Simonetta, Pierangeli, Giulia, Cevoli, Sabina, Cortelli, Pietro

“…We conducted a pedigree analysis in 222 patients with cluster headaches (CHs) in order to assess a familial predisposition to the disease. Heritability was…”
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Reduced arylsulphatase A activity in children with severe mental retardation by Sangiorgi, S, Mochi, M, Cammarata, S, Benassi, G, Guarino, M, D'Alessandro, R

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Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees by ROMEO, G, RONCUZZI, L, SANGIORGI, S, GIACANELLI, M, LIGUORI, M, TESSAROLO, D, ROCCHI, M

“…Two unrelated pedigrees, which show recurrence of Emery-Dreifuss muscular dystrophy (EDMD) in three generations, have been studied using 13 X-linked DNA…”
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Reduced activity of arylsulfatase A and predisposition to neurological disorders: analysis of 140 pediatric patients by Sangiorgi, S, Ferlini, A, Zanetti, A, Mochi, M

“…A sample of 140 children exhibiting neurologic disturbances (93 suffering from epilepsy and 47 with delayed psychomotor development or mental retardation) was…”
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Developmental G6PD polymorphism inDrosophila melanogaster: Evidence for non-structural variants by Fadda, Stefania, Sangiorgi, Simonetta, Pieragostini, Elisa

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ADH system and genetic background: interaction with wing length in Drosophila melanogaster by Pieragostini, E, Sangiorgi, S, Cavicchi, S

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Developmental G6PD polymorphism in Drosophila melanogaster: evidence for non-structural variants by Fadda, S, Sangiorgi, S, Pieragostini, E

“…G6PD isozyme variation in Drosophila melanogaster is investigated in the larval stage through electrophoretic and genetic analyses. As current structural…”
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Genetic and demographic characterization of a population with high incidence of fucosidosis by Sangiorgi, S, Mochi, M, Beretta, M, Prosperi, L, Costantino, G, Romeo, G

“…A random sample of unrelated students living in Grotteria and Mammola, two villages of Southern Italy from where most of the Italian patients affected with…”
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