Dallapiccola B - Search Results

1

Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis.

Conte A, Brancati F, Garaci F, Toschi N, Bologna M, Fabbrini G, Falla M, Dallapiccola B, Bollero P, Floris R, Berardelli A. Conte A, et al. Among authors: dallapiccola b. PLoS One. 2012;7(12):e51749. doi: 10.1371/journal.pone.0051749. Epub 2012 Dec 17. PLoS One. 2012. PMID: 23284759 Free PMC article.

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. Among authors: dallapiccola b. Mov Disord. 2002 Mar;17(2):392-7. doi: 10.1002/mds.10077. Mov Disord. 2002. PMID: 11921130

3

Primary hypothyroidism and osteopenia associated with Neuhauser syndrome.

Sarkozy A, Mingarelli R, Brancati F, Dallapiccola B. Sarkozy A, et al. Among authors: dallapiccola b. Am J Med Genet. 2002 Sep 1;111(4):412-4. doi: 10.1002/ajmg.10577. Am J Med Genet. 2002. PMID: 12210302

4

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: dallapiccola b. Mov Disord. 2003 Feb;18(2):207-12. doi: 10.1002/mds.10314. Mov Disord. 2003. PMID: 12539217

5

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.

Valente EM, Salpietro DC, Brancati F, Bertini E, Galluccio T, Tortorella G, Briuglia S, Dallapiccola B. Valente EM, et al. Among authors: dallapiccola b. Am J Hum Genet. 2003 Sep;73(3):663-70. doi: 10.1086/378241. Epub 2003 Aug 7. Am J Hum Genet. 2003. PMID: 12908130 Free PMC article.

6

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: dallapiccola b. Mov Disord. 2003 Sep;18(9):1047-51. doi: 10.1002/mds.10476. Mov Disord. 2003. PMID: 14502674

7

Recurrent triploidy of maternal origin.

Brancati F, Mingarelli R, Dallapiccola B. Brancati F, et al. Among authors: dallapiccola b. Eur J Hum Genet. 2003 Dec;11(12):972-4. doi: 10.1038/sj.ejhg.5201076. Eur J Hum Genet. 2003. PMID: 14508508

8

Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene.

Pizzuti A, Fabbrini G, Salehi L, Vacca L, Inghilleri M, Dallapiccola B, Berardelli A. Pizzuti A, et al. Among authors: dallapiccola b. Neurology. 2004 Mar 23;62(6):1021-2. doi: 10.1212/01.wnl.0000115174.96423.a8. Neurology. 2004. PMID: 15037720 No abstract available.

9

Ablepharon-macrostomia syndrome in a 46-year-old woman.

Brancati F, Mingarelli R, Sarkozy A, Dallapiccola B. Brancati F, et al. Among authors: dallapiccola b. Am J Med Genet A. 2004 May 15;127A(1):96-98. doi: 10.1002/ajmg.a.20658. Am J Med Genet A. 2004. PMID: 15103726

10

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: dallapiccola b. Mov Disord. 2005 Jan;20(1):81-6. doi: 10.1002/mds.20267. Mov Disord. 2005. PMID: 15390042

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