Ashaat NA - Search Results

1

Biallelic TYR and TKFC variants in Egyptian patients with OCA1 and new expanded TKFC features.

Ashaat EA, Esmaiel NN, El-Saiedi SA, Ashaat NA, Hussen DF, Ramadan A, Al Kersh MA, AbdelHakim NS, Said I, Metwally AM, Fayez A. Ashaat EA, et al. Among authors: ashaat na. BMC Genomics. 2024 Sep 9;25(1):844. doi: 10.1186/s12864-024-10705-4. BMC Genomics. 2024. PMID: 39251934 Free PMC article.

2

Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients.

Elaraby NM, Ahmed HA, Dawoud H, Ashaat NA, Azmy A, Galal ER, Elhusseny Y, Awady HE, Metwally AM, Ashaat EA. Elaraby NM, et al. Among authors: ashaat na. Mol Biol Rep. 2024 Jun 15;51(1):766. doi: 10.1007/s11033-024-09646-8. Mol Biol Rep. 2024. PMID: 38877370

3

Correction to: Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene.

Elaraby NM, Ahmed HA, Ashaat NA, Tawfik S, Ahmed MKH, Hassib NF, Ashaat EA. Elaraby NM, et al. Among authors: ashaat na. J Mol Neurosci. 2024 Jun 1;74(2):58. doi: 10.1007/s12031-024-02233-3. J Mol Neurosci. 2024. PMID: 38822216 Free PMC article. No abstract available.

4

The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.

Ashaat EA, Ahmed HA, Elaraby NM, Fayez A, Metwally AM, Mekkawy MK, Hussen DF, Ashaat NA, Elhossini RM, ElAwady HA, Abdelgawad RHA, Gammal ME, Al Kersh MA, Saleh DA. Ashaat EA, et al. Among authors: ashaat na. Mol Neurobiol. 2024 Aug;61(8):4949-4961. doi: 10.1007/s12035-023-03866-y. Epub 2023 Dec 28. Mol Neurobiol. 2024. PMID: 38153683 Free PMC article.

5

First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.

Elaraby NM, Galal ER, Abdel-Hamid M, Elbendary HM, Elbadry M, Mekkawy MK, Ashaat NA, Mounir SM, Ashaat EA. Elaraby NM, et al. Among authors: ashaat na. J Mol Neurosci. 2023 Aug;73(7-8):598-607. doi: 10.1007/s12031-023-02139-6. Epub 2023 Jul 20. J Mol Neurosci. 2023. PMID: 37470904 Free PMC article.

6

Sialic acid and anti-ganglioside M1 antibodies are invaluable biomarkers correlated with the severity of autism spectrum disorder.

Ashaat EA, Sabry S, Zaki ME, Mohamed R, Abdelsattar HA, Bawady SA, Ashaat NA, Elnaggar W, Ganem MMF, El-Hariri HM, El-Bassyouni HT, Saleh DA. Ashaat EA, et al. Among authors: ashaat na. Brain Dev. 2023 Apr;45(4):212-219. doi: 10.1016/j.braindev.2022.11.006. Epub 2022 Dec 13. Brain Dev. 2023. PMID: 36522215

7

Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.

Elaraby NM, Ahmed HA, Ashaat NA, Tawfik S, Ahmed MKH, Hassib NF, Ashaat EA. Elaraby NM, et al. Among authors: ashaat na. J Mol Neurosci. 2022 Nov;72(11):2242-2251. doi: 10.1007/s12031-022-02074-y. Epub 2022 Oct 17. J Mol Neurosci. 2022. PMID: 36251212 Free PMC article. Review.

8

Turner syndrome in diverse populations.

Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong MK, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, de Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M. Kruszka P, et al. Among authors: ashaat na. Am J Med Genet A. 2020 Feb;182(2):303-313. doi: 10.1002/ajmg.a.61461. Epub 2019 Dec 19. Am J Med Genet A. 2020. PMID: 31854143 Free PMC article.

9

The potential impact of COMT gene variants on dopamine regulation and phenotypic traits of ASD patients.

Esmaiel NN, Ashaat EA, Mosaad R, Fayez A, Ibrahim M, Abdallah ZY, Issa MY, Salem S, Ramadan A, El Wakeel MA, Ashaat NA, Zaki MS, Ismail S. Esmaiel NN, et al. Among authors: ashaat na. Behav Brain Res. 2020 Jan 27;378:112272. doi: 10.1016/j.bbr.2019.112272. Epub 2019 Oct 3. Behav Brain Res. 2020. PMID: 31586564

10

Study of C677T variant of methylene tetrahydrofolate reductase gene in autistic spectrum disorder Egyptian children.

Ismail S, Senna AA, Behiry EG, Ashaat EA, Zaki MS, Ashaat NA, Salah DM. Ismail S, et al. Among authors: ashaat na. Am J Med Genet B Neuropsychiatr Genet. 2019 Jul;180(5):305-309. doi: 10.1002/ajmg.b.32729. Epub 2019 Apr 29. Am J Med Genet B Neuropsychiatr Genet. 2019. PMID: 31033224

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