Pubblicazioni CRN

Pubblicato 17 giugno 2015 |

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Abstracts 1996 – 2006

2006 (4)

1. Amalia C. Bruni, Gianfranco Puccio. “La rete dei servizi Alzheimer” eds Alzheimer Italia – I trimestre 2006 Anno XIV n° 30 pg.30-31

2. Manganelli F, Perretti A, Nolano M, Lanzillo B, Bruni AC, De Michele G,et al.: “Electrophysiologic characterization in spinocerebellar ataxia 17” Neurology 2006; 66:932-934

3. Bernardi L, Maletta R, Tomaino, Smirne N, Di Natale M, Perri M, et al. The effects of APOE and tau gene variability on risk of frontotemporal dementia. Neurobiol Aging 2006; 27:702-709

4. Salvatore E, Varrone A, Sansone V, Nolano M, Bruni AC, De Rosa A, et al. “Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17” Mov Disord 2006; 21:872-875

2005 (2)  

1. Puccio G, Colao R, Curcio SAM, Frangipane F, Mirabelli M, Maletta R, et al. “Frontal Variant in PS1 Mutated Families: Does the pure Clinical Picture of AD exist?” New Trends in Alzheimer and Parkinson Related Disorders: AD PD 2005 pp 217-223

2. Emanuele E , D’Angelo A, Tomaino C, Binetti G, Ghidoni R, Politi P, et al.: Circulating levels of solubile receptor for advanced glycation end products in Alzheimer disease and vascular dementia. Arch Neurol 2005; 62:1734-1736

2004 (10)

1. Bruni AC, Kawarai T, Spillantini MG, St.George HyslopPH, Leotta A, Lio S, Foncin JF, et al. Démence Fronto-Temporale Familiale Avec Inclusions Marquées Par L’antiubiquitine Dans Le Tronc Cérébral. Rev Neurol (Paris) 2004; 160:1171-1179.
2. Bruni AC, Takahashi-Fujigasaki J, Maltecca F, Foncin JF, Servadio A, Casari G, et al.: Behavioural disorder, dementia, ataxia and rigidity in a large family with TATA box-Binding protein mutation: a clinico-pathological study. Arch Neurol 2004; 61:1314-1320

3. Rossi G, Giaccone G, Maletta RG, Morbin M, Capobianco R, Mangieri M, et al.: A family with Alzheimer’s disease and Stroke associated with A713T mutation of the APP gene. Neurology  2004; 63(5):910-912
4. Emanuele E., Peros E, Tomaino C, Feudatari E, Bernardi L, Binetti G, et al. Relation of apolipoprotein(a) size to Alzheimer’s disease and vascular dementia. Dement Geriatr Cogn Dis 2004; 18:189-196.
5. Emanuele E., Peros E, Tomaino C, Feudatari E, Bernardi L, Binetti G, et al.: Apolipoprotein(a) null phenotype is related to a delayed age at onset of Alzheimer’s disease. Neurosci.Lett. 2004; 1(357): 45-48
6. Johnson J, Ostojic J, Lannfelt L, Glaser A, Basun H, Rogaeva E, et al.: No evidence for Tau duplications in Fronto Temporal Dementia Families showing genetic linkage to the Tau Locus in which Tau mutations have not yet been found.  Neurosci Lett. 2004; 363(2):99-101
7. Bruni AC: La  Malattia di Alzheimer e la Demenza Frontotemporale. In : Caleidoscopio Italiano. Editoria Medical System –Genova. Settembre 2004, vol. 179.
8. Musicco M, Caltagirone C, Sorbi S, Bonavita V e il Gruppo di studio per le demenze delle Società Italiana di Neurologia. Italian Neurological Society guidelines for the diagnosis of dementia : revision 1. Neurol Sci 2004; 25:154-167
9.  Tomaino C, Filla A, DeMichele G, Bruni AC. A Large family with a neurological and unknown complex disorder Review series Dementia 2004; issue 2: pp12-13

10. Rizzo M., Bruni AC, Barberio C., MagroG., Foncin JF A Heidenhain variant of Creutzfeldt-Jakob disease: forensic implication. Forensic Sci Int 2004; vol 2 suppl 146:S51-54

2003 (10) 

1. Garasto S, Rose G, Derango F, Berardelli M, Corsonello A, Feraco E, et al.: The study of APOA1, APOC3, APOA4 variability in healthy ageing people reveals another paradox in the oldest old subjects. Ann Hum Genet 2003; 67 (Pt 1): 54-62
2. Di Natale M, Perri M, Maletta RG, Tomaino C, Kawarai T, Sato C, et al.: Absence of Association Between Alzheimer’s Disease and the Regulatory Region Polymorphism of the PS-2 Gene in an  Italian Population. Neurosci Lett 2003; 3(343): 210-212

3. Heyer E, Toupance B, Perri C, De Vito O, Foncin JF, Bruni AC: Manic depressive illness in a founder population. Eur J Hum Genet 2003; (11): 597-602

4. Takahashi-Fujigasaki J, Fujigasaki H, Iwabuchi K, Bruni AC, Uchihara T, EI Hachimi KH, et al.: Relation between PML nuclear bodies and neuronal intranuclear inclusions in polyglutamine diseases. Neurobiology of disease 2003; 13(3):230-237
5. Bruni AC: Geni e fattori di rischio nelle Demenze Degenerative. Riv.Med.Lab. – JLM (2003); 2-S1(3)

6. Emanuele, Peros E, Tomaino C, Feudatari E, Bernardi L, Binetti G,et al.: Association between small apolipoprotein(a) isoforms and frontotemporal dementia in humans. Neuroscience letters 2003; 3(353): 201-204

7. Confaloni AM, Terreni L, Piscopo P, Crestini A, Malvezzi Campeggi L, Sala Frigerio C, et al.: Nicastrin Gene in Familial and Sporadic Alzheimer’s Disease. Neuroscience Letters 2003; (353): 61-65

8. Bruni AC: Demenza Frontotemporale Familiare. Le Demenze in Italia 100 casi clinici. UTET (eds). (2003); : 212
9. Maltecca F, Filla A, Castaldo I, Coppola G, Fragassi N.A., Carella M, et al.: Intergenerational instability and marked anticipation in SCA-17. Neurology 2003; 61: 1441-1443

10. De Michele G, Maltecca F, Carella M, Volpe G, Orio M, De Falco A, et al.: Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17. Neurol Sci 2003; 24 (3):166-167

2002 (4)

1. Curcio SAM, Kawarai T, Paterson AD, Maletta RG, Puccio G, Perri M, et al.: A large Calabrian Kindred segregating frontotemporal dementia. J Neurol 2002; 7(249): 911-922

2. Bruni AC: L’Archivio Storico come fonte per la Ricerca Neurogenetica. Quaderni del Dipartimento di Linguistica-20. Documenti & Archivi (eds). 2002; Giugno: 95-106

3. Filla A, De Michele G, Cocozza S, Parignani A, Volpe G, Castaldo I, et al.: Early Onset Autosomal dominant Dementia with Ataxia, Extrapyramidal Features, and Epilepsy. Neurology 2002; 26(58): 922-928

4. Foncin JF, Bruni AC: Formes dominantes de la maladie d’Alzheimer. Rev Neurol (2002); 158:8-9: 842-843

2001 (3)

1. Carrieri G, Bonafè M, De Luca M, Rose G, Varcasia O, Bruni AC, et al.: Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer’s disease. Hum Genet 2001; 108(3): 194-198
2. Nicolau M, Song YQ, Sato C, Orlacchio A, Kawarai T, Medeiros H et al.: Mutations in the Open Reading Frame of the Beta-site APP Cleaving Enzyme (BACE) locus are not a Common Cause of Alzheimer’s Disease. Neurogenetics 2001; 3(4): 203-206

3. Bruni AC, Perri M: Le basi genetiche della malattia di Alzheimer. Ambiente e Genetica in Neuroscienze. Litoline (eds).2001; : 95-98

2000 (4)

1. Jorge R, Mangone C, Castano E, Perandones C, Rogaeva E, St George-Hyslop PH, et al.: Comparison of the Clinical and Pathological Phenotypes in two Ethnically and Geographically Unrelated Pedigrees Segregating an equivalent Presenilin 1 Mutation. J Neuropsychiatry Clin Neurosci 2000; 12(3): 359-3630
2. Bruni AC: Nuove acquisizioni nel campo della Malattia di Alzheimer: la Nicastrina. Alzheimer Italia (2000) I trimestre Anno VII n° 20;

3. Yu G, Nishimura M, Arawaka S, Levitan D, Zhang L, Tandon A, et al.: Nicastrin Modulates Presenilin-Mediated Notch/Glp1 and APP Processing. Nature 2000; (407): 48-54

4. Sorbi S e il Gruppo di studio per le demenze della Società Italiana di Neurologia: Guidelines for the diagnosis of dementia and Alzheimer Disease. Neurol Sci 2000; 21 (4):187-194

1999 (2)

1. Bruni AC: Current Knowledge on the Genetics of Alzheimer’s Disease: problems, past, present and future. Psychiatric Networks 1999; (2): 9-22

2. Rogaeva E, Premkumar S, Grubber J, Serneels L, Scott WK, Kawarai T, et al.: An alpha-2.macroglobulin insertion-deletion polymorphism in Alzheimer Disease. Nature Genetics 1999; (1): 19-21 

1998 (3)

1. Bruni AC: Cloning of the Gene Bearing Missense Mutations in Early Onset Familial Alzheimer’s Disease: Calabrian Study. Funct Neurology 1998; (13): 257-261
2. Bruni AC: Il Ruolo dei Pedigrees Calabresi nell’isolamento del PS1. Neurobiologia 1998; 44(3): 198-203

3. Rogaeva E, Premkumar S, Song YQ, Sorbi S, Brindle N, Psyche M, et al.: Evidence for an Alzheimer Disease Susceptibility locus on Chromosome 12 and for further Locus Heterogeneity. JAMA 1998; 7(280): 614-618

1997 (2)

1. Bruni AC: L’emigrazione delle Famiglie Calabresi nella Storia della Malattia di Alzheimer Familiare: La Nicastro Family e la Torino Family. Newsletter di Neuroscienze 1997; 3(1): 1-4

2. Bruni AC, Montesi MP: Malattia di Alzheimer Familiare: La Storia della Medicina applicata ad una Ricerca. Alla ricerca di un futuro possibile. Andromeda (eds). 1997; (2): 199-209

1996 (3)

1. Bruni AC, Montesi MP: La Malattia di Alzheimer in una Popolazione Emigrata: Storia di una Ricerca. Conferenze e Seminari in Neuroscienze. Ceroni, Martignoni Molinari (eds). 1996; : 171-185

2. Bolino A, Brancolini V, Bono F, Bruni AC, Gambardella F, Romeo G, et al.: Localization of a gene responsible for CMT4B to chromosome 11q23. Hum Molecular Genetics 1996; 5: 1051-1054

3. Quattrone A, Gambardella F, Bono F, Aguglia U, Bruni AC, Montesi MP, et al.: Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheats. Neurology 1996; 13(46): 18-24

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