Brancati F - Search Results

1

Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements.

Scarciolla O, Brancati F, Valente EM, Ferraris A, De Angelis MV, Valbonesi S, Garavaglia B, Uncini A, Palka G, Stuppia L, Dallapiccola B. Scarciolla O, et al. Among authors: brancati f. Mov Disord. 2007 Nov 15;22(15):2274-8. doi: 10.1002/mds.21532. Mov Disord. 2007. PMID: 17914726

2

Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.

Brancati F, Defazio G, Caputo V, Valente EM, Pizzuti A, Livrea P, Berardelli A, Dallapiccola B. Brancati F, et al. Mov Disord. 2002 Mar;17(2):392-7. doi: 10.1002/mds.10077. Mov Disord. 2002. PMID: 11921130

3

Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene.

Defazio G, Brancati F, Valente EM, Caputo V, Pizzuti A, Martino D, Abbruzzese G, Livrea P, Berardelli A, Dallapiccola B. Defazio G, et al. Among authors: brancati f. Mov Disord. 2003 Feb;18(2):207-12. doi: 10.1002/mds.10314. Mov Disord. 2003. PMID: 12539217

4

A novel family with an unusual early-onset generalized dystonia.

Fabbrini G, Brancati F, Vacca L, Valente EM, Nemeth A, Meesaq A, Sykes N, Dallapiccola B, Berardelli A. Fabbrini G, et al. Among authors: brancati f. Mov Disord. 2005 Jan;20(1):81-6. doi: 10.1002/mds.20267. Mov Disord. 2005. PMID: 15390042

5

Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.

Clarimon J, Brancati F, Peckham E, Valente EM, Dallapiccola B, Abruzzese G, Girlanda P, Defazio G, Berardelli A, Hallett M, Singleton AB. Clarimon J, et al. Among authors: brancati f. Mov Disord. 2007 Jan 15;22(2):162-6. doi: 10.1002/mds.21182. Mov Disord. 2007. PMID: 17133500

6

Mutation screening of the DYT6/THAP1 gene in Italy.

Bonetti M, Barzaghi C, Brancati F, Ferraris A, Bellacchio E, Giovanetti A, Ialongo T, Zorzi G, Piano C, Petracca M, Albanese A, Nardocci N, Dallapiccola B, Bentivoglio AR, Garavaglia B, Valente EM. Bonetti M, et al. Among authors: brancati f. Mov Disord. 2009 Dec 15;24(16):2424-7. doi: 10.1002/mds.22861. Mov Disord. 2009. PMID: 19908325

7

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Elia AE, Ghezzi D, Albanese A, Altavista MC, Antonini A, Barone P, Brusa L, Cortelli P, Martinelli P, Pellecchia MT, Pezzoli G, Scaglione C, Stanzione P, Tinazzi M, Zecchinelli A, Zeviani M, Cassetta E, Garavaglia B, Dallapiccola B, Bentivoglio AR, Valente EM; Italian PD Study Group. Marongiu R, et al. Hum Mutat. 2008 Apr;29(4):565. doi: 10.1002/humu.20719. Hum Mutat. 2008. PMID: 18330912 Free article.

8

Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.

Valente EM, Misbahuddin A, Brancati F, Placzek MR, Garavaglia B, Salvi S, Nemeth A, Shaw-Smith C, Nardocci N, Bentivoglio AR, Berardelli A, Eleopra R, Dallapiccola B, Warner TT. Valente EM, et al. Among authors: brancati f. Mov Disord. 2003 Sep;18(9):1047-51. doi: 10.1002/mds.10476. Mov Disord. 2003. PMID: 14502674

9

Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.

Marongiu R, Brancati F, Antonini A, Ialongo T, Ceccarini C, Scarciolla O, Capalbo A, Benti R, Pezzoli G, Dallapiccola B, Goldwurm S, Valente EM. Marongiu R, et al. Among authors: brancati f. Hum Mutat. 2007 Jan;28(1):98. doi: 10.1002/humu.9472. Hum Mutat. 2007. PMID: 17154281

10

The expanding joubert spectrum.

Valente EM, Brancati F, Dallapiccola B. Valente EM, et al. Among authors: brancati f. Neuroradiol J. 2007 Aug 31;20(4):421-5. doi: 10.1177/197140090702000406. Epub 2007 Aug 31. Neuroradiol J. 2007. PMID: 24299702 No abstract available.

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