PALMERI, SILVIA

PALMERI, SILVIA  

Dipartimento di Scienze Mediche, Chirurgiche e Neuroscienze  

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Risultati 1 - 20 di 59 (tempo di esecuzione: 0.0 secondi).
Titolo Data di pubblicazione Autore(i) File Abstract
A case of dystonia with onset during pregnancy. 1-gen-2007 Buccoliero, R; Palmeri, Silvia; Malandrini, Alessandro; Dotti, Maria; Federico, Antonio -
A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome C oxidase deficiency. 1-gen-2000 Santoro, L; Carrozzo, R; Malandrini, Alessandro; Piemonte, F; Patrono, C; Villanova, M; Tessa, A; Palmeri, Silvia; Bertini, E; Santorelli, F. M. -
A syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers. 1-gen-1997 Malandrini, Alessandro; Palmeri, Silvia; Villanova, M; Parrotta, E; Sicurelli, F; Amato, D; Defalco, D; Guazzi, G. C. -
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities. 1-gen-1996 Malandrini, Alessandro; Cesaretti, S; Mulinari, M; Palmeri, Silvia; Fabrizi, Gm; Villanova, M; Parrotta, E; Montagnani, A; Montagnani, M; Anichini, M; Guazzi, -
Amiodarone induced lipidosis similar to Niemann-Pick C disease. Biochemical and morphological study. 1-gen-1995 Palmeri, Silvia; Battisti, Carla; Malandrini, Alessandro; Federico, Antonio -
Antibodies to dorsal root ganglia and olfactory cells in a patient with chronic sensory neuropathy and anosmia. 1-gen-2004 Gambelli, S; Ginanneschi, Federica; Malandrini, Alessandro; Palmeri, Silvia; Berti, Gianna; Desiderio, P; Bellussi, LUISA MARIA; Maria, Pf; Rossi, Alessandro -
Assessment of cognitive profile and visual spatial attention in autosomal dominant cerebellar ataxia type 2 (SCA2). Correlation between eye-tracking and neuroosychological studies. 1-gen-2007 Rufa, Alessandra; J., Semboloni; Pucci, Barbara; E., Nesti; Dotti, Maria; Palmeri, Silvia; C., Puglia; Federico, Antonio -
Assessment of cognitive profile and visual spatial attention in autosomal dominant cerebellar ataxia type 2 (SCA2). Correlation Between eye-tracking and neuropsychological studies. 1-gen-2007 Dotti, Maria; Federico, Antonio; Nesti, E; Palmeri, Silvia; Pucci, B; Puglia, ; Rufa, Alessandra; Semmoloni, J. -
Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL. 1-gen-2002 Malandrini, Alessandro; Albani, F; Palmeri, Silvia; Fattapposta, F; Gambelli, S; Berti, G; Bracco, A; Tammaro, A; Calzavara, S; Villanova, M; Ferrari, M; Rossi, Alessandro; Carrera, P. -
Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome? 1-gen-1994 Guazzi, G.; Palmeri, S.; Malandrini, A.; Ciacci, G.; Di Perri, R.; Mancini, G.; Messina, C.; Salvadori, C. -
Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex 1-gen-2000 Lukong, Ke; Elsiger, Ma; Chang, Y; Richard, C; Thomas, G; Carey, W; Tylkiszymanska, A; Czartoryska, B; Buchholz, T; Criado, Gr; Palmeri, Silvia; Pshezhetsky, A. V. -
Choreo-acanthocytosis like phenotype without acanthocytes: clinicopathological case report. A contribution to the knowledge of the functional pathology of the caudate nucleus. 1-gen-1993 Malandrini, Alessandro; Fabrizi, Gm; Palmeri, Silvia; Ciacci, G; Salvadori, Claudio; Berti, Gianna; Bucalossi, A; Federico, Antonio; Guazzi, Gc -
Chronic diarrhea associated with the A3243G mtDNA mutation. 1-gen-2000 Santorelli, Fm; Villanova, M; Malandrini, Alessandro; Grieco, Gs; Palmeri, Silvia; Merlini, L; Casali, C. -
Clinical Course of Two Italian Siblings with Ataxia-Telangiectasia-Like Disorder. 1-gen-2013 Palmeri, Silvia; Rufa, Alessandra; Pucci, Barbara; Santarnecchi, Emiliano; Malandrini, Alessandro; Stromillo, Ml; Mandalà, M; Rosini, Francesca; DE STEFANO, Nicola; Federico, Antonio -
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy. 1-gen-1996 Malandrini, Alessandro; Carrera, P; Palmeri, Silvia; Cavallaro, T; Fabrizi, Gm; Villanova, M; Fattapposta, M; Vismara, L; Brancolini, V; Tanganelli, P; Calì, A; Morocutti, C; Zeviani, M; Ferrari, M; Guazzi, G. C. -
Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy. 1-gen-1990 Federico, Antonio; Dotti, Maria; Fabrizi, Gm; Palmeri, Silvia; Massimo, L; Robinson, Bh; Malandrini, Alessandro; Guazzi, Gc -
Congenital oculo-facial paralysis (Moebius syndrome): evidence of dominant inheritance in two families. 1-gen-1989 Dotti, Maria; Federico, Antonio; Palmeri, Silvia; Guazzi, Gc -
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). 1-gen-2010 Kruer, Mc; PAISÁN RUIZ, C; Boddaert, N; Yoon, My; Hama, H; Gregory, A; Malandrini, Alessandro; Woltjer, Rl; Munnich, A; Gobin, S; Polster, Bj; Palmeri, Silvia; Edvardson, S; Hardy, J; Houlden, H; Hayflick, Sj -
Dementia, myoclonus, peripheral neuropathy, and lipid-like material in skin biopsy during psychotropic drug treatment. 1-gen-1992 Federico, Antonio; Palmeri, Silvia; Malandrini, Alessandro; Mangano, L; Ciacci, G; Scarpini, C; Tiacci, G. -
Epilepsy with bilateral occipital calcifications: Sturge-Weber variant or a different encephalopathy? 1-gen-1993 Tiacci, C; D'Alessandro, P; Cantisani, Ta; Piccirilli, M; Signorini, E; Pelli, Ma; Cavalletti, Ml; Castellucci, G; Palmeri, Silvia; Battisti, C. -