PALMERI, SILVIA
PALMERI, SILVIA
Dipartimento di Scienze Mediche, Chirurgiche e Neuroscienze
A case of dystonia with onset during pregnancy.
2007-01-01 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.
2000-01-01 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.
1997-01-01 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.
1996-01-01 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.
1995-01-01 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.
2004-01-01 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.
2007-01-01 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.
2007-01-01 Dotti, Maria; Federico, Antonio; Nesti, E; Palmeri, Silvia; Pucci, B; Puglia, ; Rufa, Alessandra; Semmoloni, J.
Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL.
2002-01-01 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?
1994-01-01 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
2000-01-01 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.
1993-01-01 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.
2000-01-01 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.
2013-01-01 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.
1996-01-01 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.
1990-01-01 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.
1989-01-01 Dotti, Maria; Federico, Antonio; Palmeri, Silvia; Guazzi, Gc
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
2010-01-01 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.
1992-01-01 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?
1993-01-01 Tiacci, C; D'Alessandro, P; Cantisani, Ta; Piccirilli, M; Signorini, E; Pelli, Ma; Cavalletti, Ml; Castellucci, G; Palmeri, Silvia; Battisti, C.
| 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. | - |