Nardello R - Search Results

1

KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.

Cioclu MC, Mosca I, Ambrosino P, Puzo D, Bayat A, Wortmann SB, Koch J, Strehlow V, Shirai K, Matsumoto N, Sanders SJ, Michaud V, Legendre M, Riva A, Striano P, Muhle H, Pendziwiat M, Lesca G, Mangano GD, Nardello R; KCNT2-study group; Lemke JR, Møller RS, Soldovieri MV, Rubboli G, Taglialatela M. Cioclu MC, et al. Among authors: nardello r. Ann Neurol. 2023 Aug;94(2):332-349. doi: 10.1002/ana.26662. Epub 2023 May 22. Ann Neurol. 2023. PMID: 37062836

2

The hairy elbows syndrome: clinical and neuroradiological findings.

Nardello R, Mangano S, Fontana A, Tripi G, Didato MA, Di Pace M, Corsello G. Nardello R, et al. Pediatr Med Chir. 2008 Sep-Oct;30(5):262-4. Pediatr Med Chir. 2008. PMID: 19320141

3

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.

Miceli F, Striano P, Soldovieri MV, Fontana A, Nardello R, Robbiano A, Bellini G, Elia M, Zara F, Taglialatela M, Mangano S. Miceli F, et al. Among authors: nardello r. Epilepsia. 2015 Feb;56(2):e15-20. doi: 10.1111/epi.12887. Epub 2014 Dec 19. Epilepsia. 2015. PMID: 25524373 Free article.

4

A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.

Nardello R, Fontana A, Antona V, Beninati A, Mangano GD, Stallone MC, Mangano S. Nardello R, et al. Brain Dev. 2018 Jan;40(1):58-64. doi: 10.1016/j.braindev.2017.07.003. Epub 2017 Jul 26. Brain Dev. 2018. PMID: 28756000

5

A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome.

Piro E, Nardello R, Gennaro E, Fontana A, Taglialatela M, Mangano GD, Corsello G, Mangano S. Piro E, et al. Among authors: nardello r. Epileptic Disord. 2019 Feb 1;21(1):87-91. doi: 10.1684/epd.2019.1030. Epileptic Disord. 2019. PMID: 30782577

6

Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.

Nardello R, Fontana A, Mangano GD, Efthymiou S, Salpietro V, Houlden H, Mangano S. Nardello R, et al. Epileptic Disord. 2020 Feb 1;22(1):111-115. doi: 10.1684/epd.2020.1138. Epileptic Disord. 2020. PMID: 32031527

7

Migraine in children under 6 years of age: A long-term follow-up study.

Marchese F, Rocchitelli L, Messina LM, Nardello R, Mangano GD, Vanadia F, Mangano S, Brighina F, Raieli V. Marchese F, et al. Among authors: nardello r. Eur J Paediatr Neurol. 2020 Jul;27:67-71. doi: 10.1016/j.ejpn.2020.04.005. Epub 2020 Apr 17. Eur J Paediatr Neurol. 2020. PMID: 32334992

8

Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant.

Nardello R, Plicato G, Mangano GD, Gennaro E, Mangano S, Brighina F, Raieli V, Fontana A. Nardello R, et al. BMC Neurol. 2020 Apr 26;20(1):155. doi: 10.1186/s12883-020-01704-5. BMC Neurol. 2020. PMID: 32336275 Free PMC article.

9

Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?

Nardello R, Mangano GD, Miceli F, Fontana A, Piro E, Salpietro V. Nardello R, et al. Epileptic Disord. 2020 Dec 1;22(6):807-810. doi: 10.1684/epd.2020.1221. Epileptic Disord. 2020. PMID: 33337327

10

Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome.

Nardello R, Mangano GD, Fontana A, Gagliardo C, Midiri F, Borgia P, Brighina F, Raieli V, Mangano S, Salpietro V. Nardello R, et al. Eur J Med Genet. 2021 Feb;64(2):104133. doi: 10.1016/j.ejmg.2020.104133. Epub 2020 Dec 30. Eur J Med Genet. 2021. PMID: 33387673

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