Almramhi MM - Search Results

1

Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome.

Storm CS, Kia DA, Almramhi MM, Bandres-Ciga S, Finan C; International Parkinson’s Disease Genomics Consortium (IPDGC); Hingorani AD, Wood NW. Storm CS, et al. Among authors: almramhi mm. Nat Commun. 2021 Dec 20;12(1):7342. doi: 10.1038/s41467-021-26280-1. Nat Commun. 2021. PMID: 34930919 Free PMC article.

2

Using Mendelian randomization to understand and develop treatments for neurodegenerative disease.

Storm CS, Kia DA, Almramhi M, Wood NW. Storm CS, et al. Brain Commun. 2020 Mar 20;2(1):fcaa031. doi: 10.1093/braincomms/fcaa031. eCollection 2020. Brain Commun. 2020. PMID: 32954289 Free PMC article. Review.

3

Mendelian Randomisation Finds No Causal Association between Urate and Parkinson's Disease Progression.

Coneys R, Storm CS, Kia DA, Almramhi M, Wood NW. Coneys R, et al. Mov Disord. 2021 Sep;36(9):2182-2187. doi: 10.1002/mds.28662. Epub 2021 May 31. Mov Disord. 2021. PMID: 34056740

4

The role of body fat in multiple sclerosis susceptibility and severity: A Mendelian randomisation study.

Almramhi MM, Storm CS, Kia DA, Coneys R, Chhatwal BK, Wood NW. Almramhi MM, et al. Mult Scler. 2022 Oct;28(11):1673-1684. doi: 10.1177/13524585221092644. Epub 2022 May 14. Mult Scler. 2022. PMID: 35575213

5

Exploring the Role of Plasma Lipids and Statin Interventions on Multiple Sclerosis Risk and Severity: A Mendelian Randomization Study.

Almramhi MM, Finan C, Storm CS, Schmidt AF, Kia DA, Coneys R, Chopade S, Hingorani AD, Wood NW. Almramhi MM, et al. Neurology. 2023 Oct 24;101(17):e1729-e1740. doi: 10.1212/WNL.0000000000207777. Epub 2023 Sep 1. Neurology. 2023. PMID: 37657941 Free PMC article.

6

Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family.

Jelani M, Ahmed S, Almramhi MM, Mohamoud HS, Bakur K, Anshasi W, Wang J, Al-Aama JY. Jelani M, et al. Among authors: almramhi mm. Eur J Med Genet. 2015 Apr;58(4):216-21. doi: 10.1016/j.ejmg.2015.02.002. Epub 2015 Feb 23. Eur J Med Genet. 2015. PMID: 25721873

7

A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.

Jelani M, Kang C, Mohamoud HS, Al-Rehaili R, Almramhi MM, Serafi R, Yang H, Al-Aama JY, Naeem M, Alkhiary YM. Jelani M, et al. Among authors: almramhi mm. Arch Oral Biol. 2016 Jul;67:28-33. doi: 10.1016/j.archoralbio.2016.03.012. Epub 2016 Mar 23. Arch Oral Biol. 2016. PMID: 27019138

8

Case of Sjögren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis.

Gaboon NE, Jelani M, Almramhi MM, Mohamoud HS, Al-Aama JY. Gaboon NE, et al. Among authors: almramhi mm. J Dermatol. 2015 Jul;42(7):706-9. doi: 10.1111/1346-8138.12861. Epub 2015 Apr 9. J Dermatol. 2015. PMID: 25855245

9

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.

Ahmed S, Jelani M, Alrayes N, Mohamoud HS, Almramhi MM, Anshasi W, Ahmed NA, Wang J, Nasir J, Al-Aama JY. Ahmed S, et al. Among authors: almramhi mm. J Neurol Sci. 2015;353(1-2):149-54. doi: 10.1016/j.jns.2015.04.038. Epub 2015 May 1. J Neurol Sci. 2015. PMID: 25956234

10

Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family.

Serafi R, Jelani M, Almramhi MM, Mohamoud HSA, Ahmed S, Alkhiary YM, Zhang J, Yang H, Al-Aama JY. Serafi R, et al. Among authors: almramhi mm. Ann Hum Genet. 2015 Sep;79(5):350-356. doi: 10.1111/ahg.12123. Epub 2015 Jun 23. Ann Hum Genet. 2015. PMID: 26102279

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