Search Results - "Monari, Lucia"

Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: Disease Phenotype Determined by a DNA Polymorphism by Goldfarb, Lev G., Petersen, Robert B., Tabaton, Massimo, Brown, Paul, LeBlanc, Andréa C., Montagna, Pasquale, Cortelli, Pietro, Julien, Jean, Vital, Claude, Pendelbury, William W., Haltia, Matti, Willis, Peter R., Hauw, Jean J., McKeever, Paul E., Monari, Lucia, Schrank, Bertold, Swergold, Gary D., Autilio-Gambetti, Lucila, Gajdusek, D. Carleton, Lugaresi, Elio, Gambetti, Pierluigi

“…Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD), two clinically and pathologically distinct diseases, are linked to the…”
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Molecular Pathology of Fatal Familial Insomnia by Parchi, Piero, Petersen, Robert B., Chen, Shu G., Autilio-Gambetti, L., Capellari, Sabina, Monari, Lucia, Cortelli, Pietro, Montagna, Pasquale, Lugaresi, Elio, Gambetti, Pierluigi

“…Fatal familial insomnia (FFI) is linked to a mutation at codon 178 of the prion protein gene, coupled with the methionine codon at position 129, the site of a…”
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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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Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: Different Prion Proteins Determined by a DNA Polymorphism by Monari, Lucia, Chen, Shu G., Brown, Paul, Parchi, Piero, Petersen, Robert B., Mikol, Jacqueline, Gray, Franscoise, Cortelli, Pietro, Montagna, Pasquale, Ghetti, Bernardino, Goldfarb, Lev G., Gajdusek, D. Carleton, Lugaresi, Elio, Gambetti, Pierluigi, Autilio-Gambetti, Lucila

“…Fatal familial insomnia and a subtype of Creutzfeldt-Jakob disease, two clinically and pathologically distinct diseases, are linked to the same mutation at…”
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Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North African patient by Carelli, Valerio, Barboni, Piero, Zacchini, Annalisa, Mancini, Rita, Monari, Lucia, Cevoli, Sabina, Liguori, Rocco, Sensi, Mariachiara, Lugaresi, Elio, Montagna, Pasquale

“…We report the clinical and genetic study of a Leber's Hereditary Optic Neuropathy (LHON) patient of North African origin harboring the 14484/ND6 mutation of…”
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Congenital encephalomyopathy with epilepsy, chorioretinitis, basal ganglia involvement, and muscle minicores by Avoni, Patrizia, Monari, Lucia, Carelli, Valerio, Carcangiu, Roberta, Barboni, Piero, Donati, Catia, Badiali, Lucilla, Baruzzi, Agostino, Montagna, Pasquale

“…A woman had severe psychomotor retardation, epilepsy, rigidity, and chorioretinitis. Magnetic resonance imaging showed cerebellar and cerebral atrophy and…”
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A novel mechanism of phenotypic heterogeneity demonstrated by the effect of a polymorphism on a pathogenic mutation in the PRNP (prion protein gene) by Petersen, R B, Goldfarb, L G, Tabaton, M, Brown, P, Monari, L, Cortelli, P, Montagna, P, Autilio-Gambetti, L, Gajdusek, D C, Lugaresi, E

“…Fatal familial insomnia (FFI) is a subacute dementing illness originally described in 1986. The phenotypic characteristics of this disease include progressive…”
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