Naseer MI - Search Results

1

Autosomal recessive spinocerebellar ataxia type 4 due to a novel homozygous mutation in the VPS13D gene in a Saudi family.

Algahtani H, Shirah B, Naseer MI. Algahtani H, et al. Among authors: naseer mi. Clin Neurol Neurosurg. 2024 May;240:108271. doi: 10.1016/j.clineuro.2024.108271. Epub 2024 Mar 30. Clin Neurol Neurosurg. 2024. PMID: 38569247

2

A missense variant in the PACS2 gene cause Epileptic Encephalopathy and seizures in Saudi family.

Haque A, Naseer MI. Haque A, et al. Among authors: naseer mi. Pak J Med Sci. 2024 Mar-Apr;40(4):782-784. doi: 10.12669/pjms.40.4.8707. Pak J Med Sci. 2024. PMID: 38545008 Free PMC article.

3

Whole exome sequencing of a novel homozygous missense variant in PALB2 gene leading to Fanconi anaemia complementation group.

Abdulkareem AA, Shirah BH, Bagabir HA, Haque A, Naseer MI. Abdulkareem AA, et al. Among authors: naseer mi. Biomed Rep. 2024 Mar 1;20(4):67. doi: 10.3892/br.2024.1756. eCollection 2024 Apr. Biomed Rep. 2024. PMID: 38476606 Free PMC article.

4

Correction to: Neuroprotective profile of pyruvate against ethanol-induced neurodegeneration in developing mice brain.

Ullah N, Naseer MI, Ullah I, Kim TH, Lee HY, Kim MO. Ullah N, et al. Among authors: naseer mi. Neurol Sci. 2024 Feb 15. doi: 10.1007/s10072-024-07398-8. Online ahead of print. Neurol Sci. 2024. PMID: 38355816 No abstract available.

5

Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis.

Muthaffar OY, Alqarni A, Shafei JA, Bahowarth SY, Alyazidi AS, Naseer MI. Muthaffar OY, et al. Among authors: naseer mi. Genes Genomics. 2024 Apr;46(4):475-487. doi: 10.1007/s13258-023-01481-8. Epub 2024 Jan 19. Genes Genomics. 2024. PMID: 38243045

6

A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report.

Muthaffar OY, Abdulkareem AA, Ashi A, Naseer MI. Muthaffar OY, et al. Among authors: naseer mi. Front Pediatr. 2023 Nov 17;11:1288542. doi: 10.3389/fped.2023.1288542. eCollection 2023. Front Pediatr. 2023. PMID: 38046674 Free PMC article.

7

Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.

Zaman Q, Khan J, Ahmad M, Khan H, Chaudhary HT, Rehman G, Rahman OU, Shah MM, Hussain J, Jamal Q, Khan BT, Khan MA, Sadeeda, Sahar K, Idrees M, Ahmad R, Faisal MS, Khan MI, Khisroon M, Abdulkareem AA, Lee E, Ryu SW, Bibi N, Muthaffar OY, Jelani M, Naseer MI. Zaman Q, et al. Among authors: naseer mi. Gene. 2024 Feb 5;894:147986. doi: 10.1016/j.gene.2023.147986. Epub 2023 Nov 11. Gene. 2024. PMID: 37956964

8

Exploring bioactive compounds from a symbiotic bacterial strain of Spongiobacter sp.

Bibi F, Naseer MI, Azhar EI. Bibi F, et al. Among authors: naseer mi. Bioinformation. 2023 Apr 30;19(4):369-374. doi: 10.6026/97320630019369. eCollection 2023. Bioinformation. 2023. PMID: 37822833 Free PMC article.

9

Leber hereditary optic neuropathy presenting as bilateral visual loss and white matter disease.

Algahtani H, Shirah B, Abdulkareem AA, Bibi F, Pushparaj PN, Naseer MI. Algahtani H, et al. Among authors: naseer mi. Bioinformation. 2023 Mar 31;19(3):226-229. doi: 10.6026/97320630019226. eCollection 2023. Bioinformation. 2023. PMID: 37808372 Free PMC article.

10

Use of whole exome sequencing for identification of genetic variants related to Growth Hormone Deficiency and Short Stature: A Family-Based Study.

Alharazy S, Naseer MI. Alharazy S, et al. Among authors: naseer mi. Pak J Med Sci. 2023 Sep-Oct;39(5):1337-1344. doi: 10.12669/pjms.39.5.7601. Pak J Med Sci. 2023. PMID: 37680843 Free PMC article.

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