Tucci A - Search Results

1

Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.

Rinaldi B, Ge YH, Freri E, Tucci A, Granata T, Estienne M, Sun JH, Gérard B, Bayat A, Efthymiou S, Gervasini C, Shi YS, Houlden H, Marchisio P, Milani D. Rinaldi B, et al. Among authors: tucci a. Neurogenetics. 2022 Jan;23(1):27-35. doi: 10.1007/s10048-021-00666-1. Epub 2021 Nov 3. Neurogenetics. 2022. PMID: 34731330 Free PMC article.

2

Genetic variability at the PARK16 locus.

Tucci A, Nalls MA, Houlden H, Revesz T, Singleton AB, Wood NW, Hardy J, Paisán-Ruiz C. Tucci A, et al. Eur J Hum Genet. 2010 Dec;18(12):1356-9. doi: 10.1038/ejhg.2010.125. Epub 2010 Aug 4. Eur J Hum Genet. 2010. PMID: 20683486 Free PMC article.

3

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases.

Sailer A, Scholz SW, Gibbs JR, Tucci A, Johnson JO, Wood NW, Plagnol V, Hummerich H, Ding J, Hernandez D, Hardy J, Federoff HJ, Traynor BJ, Singleton AB, Houlden H. Sailer A, et al. Among authors: tucci a. Neurology. 2012 Jul 10;79(2):127-31. doi: 10.1212/WNL.0b013e31825f048e. Epub 2012 Jun 6. Neurology. 2012. PMID: 22675081 Free PMC article.

4

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.

Tucci A, Liu YT, Preza E, Pitceathly RD, Chalasani A, Plagnol V, Land JM, Trabzuni D, Ryten M; UKBEC; Jaunmuktane Z, Reilly MM, Brandner S, Hargreaves I, Hardy J, Singleton AB, Abramov AY, Houlden H. Tucci A, et al. J Neurol Neurosurg Psychiatry. 2014 May;85(5):486-92. doi: 10.1136/jnnp-2013-306387. Epub 2013 Nov 6. J Neurol Neurosurg Psychiatry. 2014. PMID: 24198383 Free PMC article.

5

A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings.

Koutsis G, Lynch DS, Tucci A, Houlden H, Karadima G, Panas M. Koutsis G, et al. Among authors: tucci a. J Neurol Sci. 2015 Aug 15;355(1-2):199-201. doi: 10.1016/j.jns.2015.05.031. Epub 2015 May 29. J Neurol Sci. 2015. PMID: 26049658

6

Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.

Lynch DS, Koutsis G, Tucci A, Panas M, Baklou M, Breza M, Karadima G, Houlden H. Lynch DS, et al. Among authors: tucci a. Eur J Hum Genet. 2016 Jun;24(6):857-63. doi: 10.1038/ejhg.2015.200. Epub 2015 Sep 16. Eur J Hum Genet. 2016. PMID: 26374131 Free PMC article.

7

Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.

Ronzoni L, Tagliaferri F, Tucci A, Baccarin M, Esposito S, Milani D. Ronzoni L, et al. Among authors: tucci a. Am J Med Genet A. 2016 May;170A(5):1257-61. doi: 10.1002/ajmg.a.37553. Epub 2016 Jan 11. Am J Med Genet A. 2016. PMID: 26754677

8

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.

Tucci A, Ronzoni L, Arduino C, Salmin P, Esposito S, Milani D. Tucci A, et al. BMC Med Genet. 2016 Mar 11;17:22. doi: 10.1186/s12881-016-0287-1. BMC Med Genet. 2016. PMID: 26969503 Free PMC article.

9

MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions.

Tucci A, Ciaccio C, Scuvera G, Esposito S, Milani D. Tucci A, et al. Mol Cytogenet. 2016 Nov 3;9:80. doi: 10.1186/s13039-016-0289-x. eCollection 2016. Mol Cytogenet. 2016. PMID: 27822311 Free PMC article.

10

7p22.1 microduplication syndrome: Refinement of the critical region.

Ronzoni L, Grassi FS, Pezzani L, Tucci A, Baccarin M, Esposito S, Milani D. Ronzoni L, et al. Among authors: tucci a. Eur J Med Genet. 2017 Feb;60(2):114-117. doi: 10.1016/j.ejmg.2016.11.005. Epub 2016 Nov 16. Eur J Med Genet. 2017. PMID: 27866048

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