Mangano GD - 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: mangano gd. Ann Neurol. 2023 Aug;94(2):332-349. doi: 10.1002/ana.26662. Epub 2023 May 22. Ann Neurol. 2023. PMID: 37062836

2

Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit.

Scalia F, Barone R, Rappa F, Marino Gammazza A, Lo Celso F, Lo Bosco G, Barone G, Antona V, Vadalà M, Vitale AM, Mangano GD, Amato D, Sentiero G, Macaluso F, Myburgh KH, Conway de Macario E, Macario AJL, Giuffrè M, Cappello F. Scalia F, et al. Among authors: mangano gd. Front Mol Biosci. 2022 Jun 2;9:887336. doi: 10.3389/fmolb.2022.887336. eCollection 2022. Front Mol Biosci. 2022. PMID: 35720129 Free PMC article.

3

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. Among authors: mangano gd, mangano s. 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

4

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: mangano gd, mangano s. Epileptic Disord. 2019 Feb 1;21(1):87-91. doi: 10.1684/epd.2019.1030. Epileptic Disord. 2019. PMID: 30782577

5

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. Among authors: mangano gd, mangano s. Epileptic Disord. 2020 Feb 1;22(1):111-115. doi: 10.1684/epd.2020.1138. Epileptic Disord. 2020. PMID: 32031527

6

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: mangano gd, mangano s. 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

7

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. Among authors: mangano gd, mangano s. BMC Neurol. 2020 Apr 26;20(1):155. doi: 10.1186/s12883-020-01704-5. BMC Neurol. 2020. PMID: 32336275 Free PMC article.

8

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. Among authors: mangano gd. Epileptic Disord. 2020 Dec 1;22(6):807-810. doi: 10.1684/epd.2020.1221. Epileptic Disord. 2020. PMID: 33337327

9

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. Among authors: mangano gd, mangano s. 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

10

Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.

Nardello R, Mangano GD, Antona V, Fontana A, Striano P, Giorgio E, Brusco A, Mangano S, Salpietro V. Nardello R, et al. Among authors: mangano gd, mangano s. Seizure. 2021 Feb;85:151-154. doi: 10.1016/j.seizure.2020.12.017. Epub 2020 Dec 31. Seizure. 2021. PMID: 33476899 Free article. Review. No abstract available.

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