Nicita F - Search Results

1

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

Garone G, Capuano A, Travaglini L, Graziola F, Stregapede F, Zanni G, Vigevano F, Bertini E, Nicita F. Garone G, et al. Among authors: nicita f. Int J Mol Sci. 2020 May 20;21(10):3603. doi: 10.3390/ijms21103603. Int J Mol Sci. 2020. PMID: 32443735 Free PMC article. Review.

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. 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: nicita f. 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. 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. J Neurogenet. 2015;29(4):178-82. doi: 10.3109/01677063.2015.1091452. Epub 2015 Nov 11. J Neurogenet. 2015. PMID: 26559560

6

Neurological features of 14q24-q32 interstitial deletion: report of a new case.

Nicita F, Di Giacomo M, Palumbo O, Ferri E, Maiorani D, Vigevano F, Carella M, Capuano A. Nicita F, et al. Mol Cytogenet. 2015 Nov 24;8:93. doi: 10.1186/s13039-015-0196-6. eCollection 2015. Mol Cytogenet. 2015. PMID: 26604985 Free PMC article.

7

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.

Nicita F, Travaglini L, Sabatini S, Garavaglia B, Panteghini C, Valeriani M, Bertini E, Nardocci N, Vigevano F, Capuano A. Nicita F, et al. Parkinsonism Relat Disord. 2016 Sep;30:81-2. doi: 10.1016/j.parkreldis.2016.05.029. Epub 2016 Jun 1. Parkinsonism Relat Disord. 2016. PMID: 27268479 No abstract available.

8

Congenital-onset spastic paraplegia in a patient with TUBB4A mutation and mild hypomyelination.

Nicita F, Bertini E, Travaglini L, Armando M, Aiello C. Nicita F, et al. J Neurol Sci. 2016 Sep 15;368:145-6. doi: 10.1016/j.jns.2016.07.002. Epub 2016 Jul 2. J Neurol Sci. 2016. PMID: 27538619 No abstract available.

9

Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia.

Travaglini L, Bellacchio E, Aiello C, Pro S, Bertini E, Nicita F. Travaglini L, et al. Among authors: nicita f. J Neurol Sci. 2017 Jul 15;378:210-212. doi: 10.1016/j.jns.2017.05.014. Epub 2017 May 10. J Neurol Sci. 2017. PMID: 28566166 No abstract available.

10

ATP1A3-related epileptic encephalopathy responding to ketogenic diet.

Schirinzi T, Graziola F, Cusmai R, Fusco L, Nicita F, Elia M, Travaglini L, Bertini E, Curatolo P, Vigevano F, Capuano A. Schirinzi T, et al. Among authors: nicita f. Brain Dev. 2018 May;40(5):433-438. doi: 10.1016/j.braindev.2018.01.002. Epub 2018 Feb 1. Brain Dev. 2018. PMID: 29395663

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