Mangano GD - Search Results

1

Heat Shock Proteins Alterations in Rheumatoid Arthritis.

Fouani M, Basset CA, Mangano GD, Leone LG, Lawand NB, Leone A, Barone R. Fouani M, et al. Among authors: mangano gd. Int J Mol Sci. 2022 Mar 3;23(5):2806. doi: 10.3390/ijms23052806. Int J Mol Sci. 2022. PMID: 35269948 Free PMC article. Review.

2

Mangano GD, Fouani M, D'Amico D, Di Felice V, Barone R. Mangano GD, et al. Int J Mol Sci. 2022 Mar 10;23(6):3004. doi: 10.3390/ijms23063004. Int J Mol Sci. 2022. PMID: 35328423 Free PMC article. Review.

3

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.

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. 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

5

Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities.

Mangano GD, Fontana A, Salpietro V, Antona V, Mangano GR, Nardello R. Mangano GD, et al. Among authors: mangano gr. Eur J Med Genet. 2022 Mar;65(3):104441. doi: 10.1016/j.ejmg.2022.104441. Epub 2022 Jan 25. Eur J Med Genet. 2022. PMID: 35091116

6

A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster.

Mangano GD, Antona V, Calì E, Fontana A, Salpietro V, Houlden H, Veggiotti P, Nardello R. Mangano GD, et al. Seizure. 2022 Apr;97:20-22. doi: 10.1016/j.seizure.2022.03.001. Epub 2022 Mar 4. Seizure. 2022. PMID: 35278764 Free article.

7

Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review.

Mangano GD, Fontana A, Antona V, Salpietro V, Mangano GR, Giuffrè M, Nardello R. Mangano GD, et al. Mol Genet Genomic Med. 2022 May;10(5):e1911. doi: 10.1002/mgg3.1911. Epub 2022 Mar 29. Mol Genet Genomic Med. 2022. PMID: 35348308 Free PMC article. Review.

8

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.

9

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes.

Nardello R, Antona V, Mangano GD, Salpietro V, Mangano S, Fontana A. Nardello R, et al. Among authors: mangano gd, mangano s. BMC Med Genomics. 2021 Apr 8;14(1):98. doi: 10.1186/s12920-021-00934-x. BMC Med Genomics. 2021. PMID: 33832486 Free PMC article.

10

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

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