Terrone G - Search Results

1

Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report.

Donnarumma B, Riccio MP, Terrone G, Palma M, Strisciuglio P, Scala I. Donnarumma B, et al. Among authors: terrone g. Ital J Pediatr. 2021 Jul 2;47(1):148. doi: 10.1186/s13052-021-01101-9. Ital J Pediatr. 2021. PMID: 34215294 Free PMC article.

2

Good cognitive performances in a child with Prader-Willi syndrome.

Nugnes R, Zito E, Mozzillo E, Camarca ME, Riccio MP, Terrone G, Melis D, Bravaccio C, Franzese A. Nugnes R, et al. Among authors: terrone g. Ital J Pediatr. 2013 Nov 15;39:74. doi: 10.1186/1824-7288-39-74. Ital J Pediatr. 2013. PMID: 24238393 Free PMC article.

3

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

4

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

5

Epilepsy in Rett Syndrome: can seizures play an encephalopathic effect in this disorder?

Bernardo P, Coppola A, Terrone G, Riccio MP, Santoro C, Del Giudice E, Bravaccio C. Bernardo P, et al. Among authors: terrone g. Minerva Pediatr. 2019 Aug;71(4):391-393. doi: 10.23736/S0026-4946.19.05309-X. Epub 2019 Apr 5. Minerva Pediatr. 2019. PMID: 30961341 No abstract available.

6

A complicated association between two different genetic rare disorders: cystic fibrosis and spinal muscular atrophy.

Palma M, Spadarella S, Donnarumma B, Zollo G, Nunziata F, Cimbalo C, Castaldo A, Buonpensiero P, Terrone G, Varone A, Tosco A, Sepe A, Raia V. Palma M, et al. Among authors: terrone g. Minerva Pediatr (Torino). 2022 Dec;74(6):797-799. doi: 10.23736/S2724-5276.19.05614-7. Epub 2021 Apr 2. Minerva Pediatr (Torino). 2022. PMID: 33820398 No abstract available.

7

Electroencephalographic findings in ATRX syndrome: A new case series and review of literature.

Aiello S, Mancardi MM, Romano A, Santucci M, Scaduto MC, Vari MS, Striano P, Operto FF, Elia M, Vitiello G, Del Giudice E, Terrone G. Aiello S, et al. Among authors: terrone g. Eur J Paediatr Neurol. 2022 Sep;40:69-72. doi: 10.1016/j.ejpn.2022.08.002. Epub 2022 Aug 18. Eur J Paediatr Neurol. 2022. PMID: 36031702 Review.

8

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

9

A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.

Terrone G, Bienvenu T, Germanaud D, Barthez-Carpentier MA, Diebold B, Delanoe C, Passemard S, Auvin S. Terrone G, et al. Epilepsia. 2014 Nov;55(11):e116-9. doi: 10.1111/epi.12800. Epub 2014 Sep 29. Epilepsia. 2014. PMID: 25266269 Free article.

10

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

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