Al-Jasmi F - Search Results

1

A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.

Mohamed FE, Al Sorkhy M, Ghattas MA, Al-Zaabi N, Al-Shamsi A, Almansoori TM, Al-Gazali L, Al-Dirbashi OY, Al-Jasmi F, Ali BR. Mohamed FE, et al. J Mol Neurosci. 2020 Jan;70(1):45-55. doi: 10.1007/s12031-019-01398-6. Epub 2019 Aug 29. J Mol Neurosci. 2020. PMID: 31468281

2

LINS, a modulator of the WNT signaling pathway, is involved in human cognition.

Akawi NA, Al-Jasmi F, Al-Shamsi AM, Ali BR, Al-Gazali L. Akawi NA, et al. Orphanet J Rare Dis. 2013 Jun 17;8:87. doi: 10.1186/1750-1172-8-87. Orphanet J Rare Dis. 2013. PMID: 23773660 Free PMC article.

3

Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.

Mohamed FE, Al-Gazali L, Al-Jasmi F, Ali BR. Mohamed FE, et al. Front Pharmacol. 2017 Jul 7;8:448. doi: 10.3389/fphar.2017.00448. eCollection 2017. Front Pharmacol. 2017. PMID: 28736525 Free PMC article. Review.

4

Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survival.

Zaabi NA, Kendi A, Al-Jasmi F, Takashima S, Shimozawa N, Al-Dirbashi OY. Zaabi NA, et al. Brain Dev. 2019 Jan;41(1):57-65. doi: 10.1016/j.braindev.2018.07.015. Epub 2018 Aug 2. Brain Dev. 2019. PMID: 30078639 Review.

5

Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias.

Al Dhahouri N, Langhans CD, Al Hammadi Z, Okun JG, Hoffmann GF, Al-Jasmi F, Al-Dirbashi OY. Al Dhahouri N, et al. Clin Chim Acta. 2018 Dec;487:41-45. doi: 10.1016/j.cca.2018.09.017. Epub 2018 Sep 11. Clin Chim Acta. 2018. PMID: 30217751

6

Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism.

Al-Dirbashi OY, Alfadhel M, Al-Thihli K, Al Dhahouri N, Langhans CD, Al Hammadi Z, Al-Shamsi A, Hertecant J, Okun JG, Hoffmann GF, Al-Jasmi F. Al-Dirbashi OY, et al. Sci Rep. 2019 Aug 26;9(1):12366. doi: 10.1038/s41598-019-48885-9. Sci Rep. 2019. PMID: 31451751 Free PMC article.

7

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases.

Al Jasmi F, Al Zaabi N, Al-Thihli K, Al Teneiji AM, Hertecant J, El-Hattab AW. Al Jasmi F, et al. J Cent Nerv Syst Dis. 2020 Feb 29;12:1179573520909377. doi: 10.1177/1179573520909377. eCollection 2020. J Cent Nerv Syst Dis. 2020. PMID: 32165851 Free PMC article.

8

The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.

Mohamed FE, Al Sorkhy M, Ghattas MA, Al-Gazali L, Al-Dirbashi O, Al-Jasmi F, Ali BR. Mohamed FE, et al. Hum Genet. 2020 May;139(5):657-673. doi: 10.1007/s00439-020-02153-3. Epub 2020 Mar 26. Hum Genet. 2020. PMID: 32219518

9

Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients.

Ali A, Almesmari FSA, Dhahouri NA, Saleh Ali AM, Aldhanhani MAAMA, Vijayan R, Al Tenaiji A, Al Shamsi A, Hertecant J, Al Jasmi F. Ali A, et al. Genes (Basel). 2021 Aug 27;12(9):1334. doi: 10.3390/genes12091334. Genes (Basel). 2021. PMID: 34573316 Free PMC article.

10

A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP Gene.

Mohamed FE, Ali A, Al-Tenaiji A, Al-Jasmi A, Al-Jasmi F. Mohamed FE, et al. J Mol Neurosci. 2022 Jun;72(6):1322-1333. doi: 10.1007/s12031-022-01987-y. Epub 2022 Mar 22. J Mol Neurosci. 2022. PMID: 35316504

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