Tucci A - Search Results

1

Correction to: 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):81. doi: 10.1007/s10048-021-00678-x. Neurogenetics. 2022. PMID: 34837146 Free PMC article. No abstract available.

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

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

4

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.

5

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

6

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.

7

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.

8

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

9

16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation.

Ciaccio C, Tucci A, Scuvera G, Estienne M, Esposito S, Milani D. Ciaccio C, et al. Among authors: tucci a. Eur J Med Genet. 2017 Mar;60(3):159-162. doi: 10.1016/j.ejmg.2016.12.006. Epub 2016 Dec 20. Eur J Med Genet. 2017. PMID: 28007608

10

Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.

Tucci A, Pezzani L, Scuvera G, Ronzoni L, Scola E, Esposito S, Milani D. Tucci A, et al. Am J Med Genet A. 2017 Mar;173(3):638-646. doi: 10.1002/ajmg.a.38054. Epub 2016 Dec 25. Am J Med Genet A. 2017. PMID: 28019079 Review.

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