Terrone G - Search Results

1

A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome.

Terrone G, Marchese F, Vari MS, Severino M, Madia F, Amadori E, Del Giudice E, Romano A, Gennaro E, Zara F, Striano P. Terrone G, et al. Seizure. 2020 Jul;79:53-55. doi: 10.1016/j.seizure.2020.05.001. Epub 2020 May 11. Seizure. 2020. PMID: 32416568 Free article. No abstract available.

2

A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.

Terrone G, D'Amico A, Imperati F, Carella M, Palumbo O, Gentile M, Canani RB, Melis D, Romano A, Parente I, Riccitelli M, Del Giudice E. Terrone G, et al. Eur J Med Genet. 2012 Aug-Sep;55(8-9):466-71. doi: 10.1016/j.ejmg.2012.04.010. Epub 2012 May 29. Eur J Med Genet. 2012. PMID: 22659270

3

Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy.

Cappuccio G, Brunetti-Pierri N, Terrone G, Romano A, Andria G, Del Giudice E. Cappuccio G, et al. Among authors: terrone g. JIMD Rep. 2013;9:113-116. doi: 10.1007/8904_2012_188. Epub 2012 Oct 30. JIMD Rep. 2013. PMID: 23430556 Free PMC article.

4

The Pediatric Symptom Checklist as screening tool for neurological and psychosocial problems in a paediatric cohort of patients with coeliac disease.

Terrone G, Parente I, Romano A, Auricchio R, Greco L, Del Giudice E. Terrone G, et al. Acta Paediatr. 2013 Jul;102(7):e325-8. doi: 10.1111/apa.12239. Epub 2013 Apr 16. Acta Paediatr. 2013. PMID: 23521635

5

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.

Terrone G, Cappuccio G, Genesio R, Esposito A, Fiorentino V, Riccitelli M, Nitsch L, Brunetti-Pierri N, Del Giudice E. Terrone G, et al. Am J Med Genet A. 2014 Jan;164A(1):190-3. doi: 10.1002/ajmg.a.36200. Epub 2013 Nov 15. Am J Med Genet A. 2014. PMID: 24243641

6

Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.

Tufano M, Cappuccio G, Terrone G, Manganelli F, Pisciotta C, Geroldi A, Capponi S, Del Giudice E. Tufano M, et al. Among authors: terrone g. J Peripher Nerv Syst. 2015 Dec;20(4):415-8. doi: 10.1111/jns.12148. J Peripher Nerv Syst. 2015. PMID: 26307494

7

De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.

Terrone G, Voisin N, Abdullah Alfaiz A, Cappuccio G, Vitiello G, Guex N, D'Amico A, James Barkovich A, Brunetti-Pierri N, Del Giudice E, Reymond A. Terrone G, et al. Eur J Hum Genet. 2016 Aug;24(9):1359-62. doi: 10.1038/ejhg.2016.7. Epub 2016 Feb 10. Eur J Hum Genet. 2016. PMID: 26860062 Free PMC article.

8

A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects.

Terrone G, Vitiello G, Genesio R, D'Amico A, Imperati F, Ugga L, Giugliano T, Piluso G, Nitsch L, Brunetti-Pierri N, Del Giudice E. Terrone G, et al. Eur J Paediatr Neurol. 2017 Nov;21(6):902-906. doi: 10.1016/j.ejpn.2017.07.006. Epub 2017 Jul 20. Eur J Paediatr Neurol. 2017. PMID: 28754298

9

Reply to letter: "Brain MRI abnormalities resembling unidentified bright objects in a patient with Phelan- McDermid syndrome".

Terrone G, Vitiello G, Del Giudice E. Terrone G, et al. Eur J Paediatr Neurol. 2018 May;22(3):570. doi: 10.1016/j.ejpn.2018.01.015. Epub 2018 Jan 31. Eur J Paediatr Neurol. 2018. PMID: 29429902 No abstract available.

10

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.

Scala M, Torella A, Severino M, Morana G, Castello R, Accogli A, Verrico A, Vari MS, Cappuccio G, Pinelli M, Vitiello G, Terrone G, D'Amico A; TUDP consortium; Nigro V, Capra V. Scala M, et al. Among authors: terrone g. Eur J Hum Genet. 2019 Aug;27(8):1254-1259. doi: 10.1038/s41431-019-0392-7. Epub 2019 Apr 1. Eur J Hum Genet. 2019. PMID: 30936465 Free PMC article.

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