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, S.; Malandrini, A.; Dotti, M. T.; Federico, A.
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, A.; Piemonte, F.; Patrono, C.; Villanova, M.; Tessa, A.; Palmeri, S.; 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, A.; Palmeri, S.; 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, A.; Cesaretti, S.; Mulinari, M.; Palmeri, S.; Fabrizi, G. M.; Villanova, M.; Parrotta, E.; Montagnani, A.; Montagnani, M.; Anichini, M.; Guazzi, G. C.
Amiodarone induced lipidosis similar to Niemann-Pick C disease. Biochemical and morphological study
1995-01-01 Palmeri, S.; Battisti, C.; Malandrini, A.; Federico, A.
Antibodies to dorsal root ganglia and olfactory cells in a patient with chronic sensory neuropathy and anosmia
2004-01-01 Gambelli, S.; Ginanneschi, F.; Malandrini, A.; Palmeri, S.; Berti, G.; Passali, D.; Bellussi, L.; Passali, F. M.; Rossi, A.
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, K. E.; Elsiger, M. A.; Chang, Y.; Richard, C.; Thomas, G.; Carey, W.; Tylkiszymanska, A.; Czartoryska, B.; Buchholz, T.; Criado, G. R.; Palmeri, S.; 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, A.; Fabrizi, G. M.; Palmeri, S.; Ciacci, G.; Salvadori, C.; Berti, G.; Bucalossi, A.; Federico, A.; Guazzi, G. C.
Chronic diarrhea associated with the A3243G mtDNA mutation
2000-01-01 Santorelli, F. M.; Villanova, M.; Malandrini, A.; Grieco, G. S.; Palmeri, S.; 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, A.; Carrera, P.; Palmeri, S.; Cavallaro, T.; Fabrizi, G. M.; 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, A.; Dotti, M. T.; Fabrizi, G. M.; Palmeri, S.; Massimo, L.; Robinson, B. H.; Malandrini, A.; Guazzi, G. C.
Congenital oculo-facial paralysis (Moebius syndrome): evidence of dominant inheritance in two families
1989-01-01 Dotti, M. T.; Federico, A.; Palmeri, S.; Guazzi, G. C.
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)
2010-01-01 Kruer, M. C.; PAISÁN-RUIZ, C.; Boddaert, N.; Yoon, M. Y.; Hama, H.; Gregory, A.; Malandrini, A.; Woltjer, R. L.; Munnich, A.; Gobin, S.; Polster, B. J.; Palmeri, S.; Edvardson, S.; Hardy, J.; Houlden, H.; Hayflick, S. J.
Dementia, myoclonus, peripheral neuropathy, and lipid-like material in skin biopsy during psychotropic drug treatment
1992-01-01 Federico, A.; Palmeri, S.; Malandrini, A.; 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, T. A.; Piccirilli, M.; Signorini, E.; Pelli, M. A.; Cavalletti, M. L.; Castellucci, G.; Palmeri, S.; Battisti, C.; Federico, A.
| Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
|---|---|---|---|---|
| A case of dystonia with onset during pregnancy | 1-gen-2007 | Buccoliero, R.; Palmeri, S.; Malandrini, A.; Dotti, M. T.; Federico, A. | - | |
| 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, A.; Piemonte, F.; Patrono, C.; Villanova, M.; Tessa, A.; Palmeri, S.; 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, A.; Palmeri, S.; 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, A.; Cesaretti, S.; Mulinari, M.; Palmeri, S.; Fabrizi, G. M.; Villanova, M.; Parrotta, E.; Montagnani, A.; Montagnani, M.; Anichini, M.; Guazzi, G. C. | - | |
| Amiodarone induced lipidosis similar to Niemann-Pick C disease. Biochemical and morphological study | 1-gen-1995 | Palmeri, S.; Battisti, C.; Malandrini, A.; Federico, A. | - | |
| Antibodies to dorsal root ganglia and olfactory cells in a patient with chronic sensory neuropathy and anosmia | 1-gen-2004 | Gambelli, S.; Ginanneschi, F.; Malandrini, A.; Palmeri, S.; Berti, G.; Passali, D.; Bellussi, L.; Passali, F. M.; Rossi, A. | - | |
| 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, K. E.; Elsiger, M. A.; Chang, Y.; Richard, C.; Thomas, G.; Carey, W.; Tylkiszymanska, A.; Czartoryska, B.; Buchholz, T.; Criado, G. R.; Palmeri, S.; 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, A.; Fabrizi, G. M.; Palmeri, S.; Ciacci, G.; Salvadori, C.; Berti, G.; Bucalossi, A.; Federico, A.; Guazzi, G. C. | - | |
| Chronic diarrhea associated with the A3243G mtDNA mutation | 1-gen-2000 | Santorelli, F. M.; Villanova, M.; Malandrini, A.; Grieco, G. S.; Palmeri, S.; 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, A.; Carrera, P.; Palmeri, S.; Cavallaro, T.; Fabrizi, G. M.; 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, A.; Dotti, M. T.; Fabrizi, G. M.; Palmeri, S.; Massimo, L.; Robinson, B. H.; Malandrini, A.; Guazzi, G. C. | - | |
| Congenital oculo-facial paralysis (Moebius syndrome): evidence of dominant inheritance in two families | 1-gen-1989 | Dotti, M. T.; Federico, A.; Palmeri, S.; Guazzi, G. C. | - | |
| Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA) | 1-gen-2010 | Kruer, M. C.; PAISÁN-RUIZ, C.; Boddaert, N.; Yoon, M. Y.; Hama, H.; Gregory, A.; Malandrini, A.; Woltjer, R. L.; Munnich, A.; Gobin, S.; Polster, B. J.; Palmeri, S.; Edvardson, S.; Hardy, J.; Houlden, H.; Hayflick, S. J. | - | |
| Dementia, myoclonus, peripheral neuropathy, and lipid-like material in skin biopsy during psychotropic drug treatment | 1-gen-1992 | Federico, A.; Palmeri, S.; Malandrini, A.; 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, T. A.; Piccirilli, M.; Signorini, E.; Pelli, M. A.; Cavalletti, M. L.; Castellucci, G.; Palmeri, S.; Battisti, C.; Federico, A. | - |