Garone G - Search Results

1

Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.

Sartorelli J, Travaglini L, Macchiaiolo M, Garone G, Gonfiantini MV, Vecchio D, Sinibaldi L, Frascarelli F, Ceccatelli V, Petrillo S, Piemonte F, Piccolo G, Novelli A, Longo D, Pro S, D'Amico A, Bertini ES, Nicita F. Sartorelli J, et al. Among authors: garone g. Genes (Basel). 2024 Apr 18;15(4):508. doi: 10.3390/genes15040508. Genes (Basel). 2024. PMID: 38674442 Free PMC article.

2

Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1.

Nicita F, Ulgiati F, Bernardini L, Garone G, Papetti L, Novelli A, Spalice A. Nicita F, et al. Among authors: garone g. Ann Hum Genet. 2015 May;79(3):209-17. doi: 10.1111/ahg.12106. Epub 2015 Mar 16. Ann Hum Genet. 2015. PMID: 25779878

3

Severe early onset ethylmalonic encephalopathy with West syndrome.

Papetti L, Garone G, Schettini L, Giordano C, Nicita F, Papoff P, Zeviani M, Leuzzi V, Spalice A. Papetti L, et al. Among authors: garone g. Metab Brain Dis. 2015 Dec;30(6):1537-45. doi: 10.1007/s11011-015-9707-8. Epub 2015 Jul 21. Metab Brain Dis. 2015. PMID: 26194623

4

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.

Nicita F, Garone G, Spalice A, Savasta S, Striano P, Pantaleoni C, Spartà MV, Kluger G, Capovilla G, Pruna D, Freri E, D'Arrigo S, Verrotti A. Nicita F, et al. Among authors: garone g. Am J Med Genet A. 2016 Jan;170A(1):148-55. doi: 10.1002/ajmg.a.37410. Epub 2015 Oct 5. Am J Med Genet A. 2016. PMID: 26437767

5

Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.

Nicita F, Garone G, Papetti L, Consoli F, Magliozzi M, De Luca A, Spalice A. Nicita F, et al. Among authors: garone g. J Neurogenet. 2015;29(4):178-82. doi: 10.3109/01677063.2015.1091452. Epub 2015 Nov 11. J Neurogenet. 2015. PMID: 26559560

6

A cohort study on acute ocular motility disorders in pediatric emergency department.

Raucci U, Parisi P, Vanacore N, Ferro V, Garone G, Sancetta F, Petroni S, Pro S, Rossi R, Reale A, Pirozzi N. Raucci U, et al. Among authors: garone g. Ital J Pediatr. 2018 May 29;44(1):62. doi: 10.1186/s13052-018-0502-0. Ital J Pediatr. 2018. PMID: 29843812 Free PMC article.

7

A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder.

Graziola F, Stregapede F, Travaglini L, Garone G, Verardo M, Bosco L, Pro S, Bertini E, Curatolo P, Vigevano F, Capuano A. Graziola F, et al. Among authors: garone g. Parkinsonism Relat Disord. 2019 Apr;61:4-6. doi: 10.1016/j.parkreldis.2018.12.001. Epub 2018 Dec 7. Parkinsonism Relat Disord. 2019. PMID: 30579817 No abstract available.

8

Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.

Schirinzi T, Garone G, Travaglini L, Vasco G, Galosi S, Rios L, Castiglioni C, Barassi C, Battaglia D, Gambardella ML, Cantonetti L, Graziola F, Marras CE, Castelli E, Bertini E, Capuano A, Leuzzi V. Schirinzi T, et al. Among authors: garone g. Parkinsonism Relat Disord. 2019 Apr;61:19-25. doi: 10.1016/j.parkreldis.2018.11.019. Epub 2018 Nov 16. Parkinsonism Relat Disord. 2019. PMID: 30642806 Review.

9

Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.

Graziola F, Garone G, Stregapede F, Bosco L, Vigevano F, Curatolo P, Bertini E, Travaglini L, Capuano A. Graziola F, et al. Among authors: garone g. Front Genet. 2019 Oct 29;10:1026. doi: 10.3389/fgene.2019.01026. eCollection 2019. Front Genet. 2019. PMID: 31737037 Free PMC article.

10

Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.

Barresi S, Dentici ML, Manzoni F, Bellacchio E, Agolini E, Pizzi S, Ciolfi A, Tarnopolsky M, Brady L, Garone G, Novelli A, Mei D, Guerrini R, Capuano A, Pantaleoni C, Tartaglia M. Barresi S, et al. Among authors: garone g. Pediatr Neurol. 2020 Mar;104:40-45. doi: 10.1016/j.pediatrneurol.2019.09.005. Epub 2019 Oct 19. Pediatr Neurol. 2020. PMID: 31836334

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