Dagna-Bricarelli F - Search Results

1

A novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer's disease.

Pantieri R, Pardini M, Cecconi M, Dagna-Bricarelli F, Vitali A, Piccini A, Russo R, Borghi R, Tabaton M. Pantieri R, et al. Neurol Sci. 2005 Dec;26(5):349-50. doi: 10.1007/s10072-005-0499-1. Neurol Sci. 2005. PMID: 16388371

2

Plasma levels of amyloid beta-protein 42 are increased in women with mild cognitive impairment.

Assini A, Cammarata S, Vitali A, Colucci M, Giliberto L, Borghi R, Inglese ML, Volpe S, Ratto S, Dagna-Bricarelli F, Baldo C, Argusti A, Odetti P, Piccini A, Tabaton M. Assini A, et al. Neurology. 2004 Sep 14;63(5):828-31. doi: 10.1212/01.wnl.0000137040.64252.ed. Neurology. 2004. PMID: 15365131

3

A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.

Cecconi M, Forzano F, Rinaldi R, Cappellacci S, Grammatico P, Faravelli F, Dagna Bricarelli F, Di Maria E, Grasso M. Cecconi M, et al. J Mol Diagn. 2008 May;10(3):272-5. doi: 10.2353/jmoldx.2008.070163. Epub 2008 Apr 10. J Mol Diagn. 2008. PMID: 18403614 Free PMC article.

4

Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.

Cecconi M, Forzano F, Garavelli L, Pantaleoni C, Grasso M, Dagna Bricarelli F, Perroni L, Di Maria E, Faravelli F. Cecconi M, et al. Among authors: dagna bricarelli f. Am J Med Genet A. 2008 Dec 1;146A(23):3095-9. doi: 10.1002/ajmg.a.32568. Am J Med Genet A. 2008. PMID: 19006215 No abstract available.

5

No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy.

Madia F, Gennaro E, Cecconi M, Buti D, Capovilla G, Dalla Bernardina B, Elia M, Ferrari A, Fontana E, Gaggero R, Giannotta M, Giordano L, Granata T, La Selva L, Luisa Lispi M, Santucci M, Vanadia F, Veggiotti P, Vigliano P, Viri M, Dagna Bricarelli F, Bianchi A, Zara F. Madia F, et al. Epilepsy Res. 2003 Mar;53(3):196-200. doi: 10.1016/s0920-1211(03)00022-6. Epilepsy Res. 2003. PMID: 12694927

6

Early glycoxidation damage in brains from Down's syndrome.

Odetti P, Angelini G, Dapino D, Zaccheo D, Garibaldi S, Dagna-Bricarelli F, Piombo G, Perry G, Smith M, Traverso N, Tabaton M. Odetti P, et al. Biochem Biophys Res Commun. 1998 Feb 24;243(3):849-51. doi: 10.1006/bbrc.1998.8186. Biochem Biophys Res Commun. 1998. PMID: 9501012

7

Plasma levels of amyloid beta 40 and 42 are independent from ApoE genotype and mental retardation in Down syndrome.

Cavani S, Tamaoka A, Moretti A, Marinelli L, Angelini G, Di Stefano S, Piombo G, Cazzulo V, Matsuno S, Shoji S, Furiya Y, Zaccheo D, Dagna-Bricarelli F, Tabaton M, Mori H. Cavani S, et al. Am J Med Genet. 2000 Nov 27;95(3):224-8. Am J Med Genet. 2000. PMID: 11102927

8

Presence of soluble amyloid beta-peptide precedes amyloid plaque formation in Down's syndrome.

Teller JK, Russo C, DeBusk LM, Angelini G, Zaccheo D, Dagna-Bricarelli F, Scartezzini P, Bertolini S, Mann DM, Tabaton M, Gambetti P. Teller JK, et al. Nat Med. 1996 Jan;2(1):93-5. doi: 10.1038/nm0196-93. Nat Med. 1996. PMID: 8564851

9

Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey.

Sensi A, Cavani S, Villa N, Pomponi MG, Fogli A, Gualandi F, Grasso M, Sala E, Pietrobono R, Baldinotti F, Savin E, Ferlini A, Cecconi M, Rossi S, Gallone S, Bellini C, Neri G, Martinoli E, Simi P, Dalprà L, Genuardi M, Dagna-Bricarelli F, Calzolari E. Sensi A, et al. Prenat Diagn. 2004 Aug;24(8):647-52. doi: 10.1002/pd.962. Prenat Diagn. 2004. PMID: 15305356

10

Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling.

Viassolo V, Previtali SC, Schiatti E, Magnani G, Minetti C, Zara F, Grasso M, Dagna-Bricarelli F, Di Maria E. Viassolo V, et al. Clin Genet. 2008 Jul;74(1):54-60. doi: 10.1111/j.1399-0004.2008.00984.x. Epub 2008 Mar 12. Clin Genet. 2008. PMID: 18341608

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