Hassan MJ - Search Results

1

Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing.

Walker S, Dad R, Thiruvahindrapuram B, Ullah MI, Ahmad A, Hassan MJ, Scherer SW, Minassian BA. Walker S, et al. Among authors: hassan mj. Neurol Genet. 2018 May 18;4(3):e242. doi: 10.1212/NXG.0000000000000242. eCollection 2018 Jun. Neurol Genet. 2018. PMID: 29845114 Free PMC article.

2

Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype.

Dad R, Walker S, Scherer SW, Hassan MJ, Alghamdi MD, Minassian BA, Alkhater RA. Dad R, et al. Among authors: hassan mj. Neurol Genet. 2017 May 23;3(3):e156. doi: 10.1212/NXG.0000000000000156. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28626794 Free PMC article. No abstract available.

3

Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.

Dad R, Walker S, Scherer SW, Hassan MJ, Kang SY, Minassian BA. Dad R, et al. Among authors: hassan mj. Neurol Genet. 2017 Sep 22;3(5):e189. doi: 10.1212/NXG.0000000000000189. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28955728 Free PMC article. No abstract available.

4

Clinical and genetic studies in patients with Lafora disease from Pakistan.

Ahmad A, Dad R, Ullah MI, Baig TA, Ahmad IN, Nasir A, Hübner CA, Hassan MJ. Ahmad A, et al. Among authors: hassan mj. J Neurol Sci. 2017 Feb 15;373:263-267. doi: 10.1016/j.jns.2017.01.010. Epub 2017 Jan 4. J Neurol Sci. 2017. PMID: 28131202

5

Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26.

Dad R, Malik U, Javed A, Minassian BA, Hassan MJ. Dad R, et al. Among authors: hassan mj. Gene. 2017 Aug 30;626:258-263. doi: 10.1016/j.gene.2017.05.041. Epub 2017 May 20. Gene. 2017. PMID: 28536081

6

Structural and functional annotation of PR/SET Domain (PRDM) protein family: In-silico study elaborating role of PRDM12 mutation in congenital insensitivity to pain.

Mehmood S, Dad R, Ahmad A, Ullah MI, John P, Ali A, Hubner CA, Mohyuddin A, Hassan MJ. Mehmood S, et al. Among authors: hassan mj. Comput Biol Chem. 2020 Dec;89:107382. doi: 10.1016/j.compbiolchem.2020.107382. Epub 2020 Sep 24. Comput Biol Chem. 2020. PMID: 33010785

7

Corrigendum to "Clinical and genetic studies in patients with Lafora disease from Pakistan"[J. Neurol. Sci. 373 (2017) 263-267].

Ahmad A, Dad R, Ullah MI, Baig TA, Ahmad IN, Nasir A, Hübner CA, Hassan MJ. Ahmad A, et al. Among authors: hassan mj. J Neurol Sci. 2017 Apr 15;375:281. doi: 10.1016/j.jns.2017.02.010. Epub 2017 Feb 12. J Neurol Sci. 2017. PMID: 28320149 No abstract available.

8

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.

Ullah MI, Nasir A, Ahmad A, Harlalka GV, Ahmad W, Hassan MJ, Baple EL, Crosby AH, Chioza BA. Ullah MI, et al. Among authors: hassan mj. BMC Med Genet. 2018 Feb 20;19(1):25. doi: 10.1186/s12881-018-0532-x. BMC Med Genet. 2018. PMID: 29458334 Free PMC article.

9

A novel deletion mutation in EPM2A underlies progressive myoclonic epilepsy (Lafora body disease) in a Pakistani family.

Orooj F, Umm-E-Kalsoom, Zhao X, Ahmad A, Ahmed IN, Faheem M, Hassan MJ, Minasian BA. Orooj F, et al. Among authors: hassan mj. Neurol Asia. 2021 Jun;26(2):427-433. Neurol Asia. 2021. PMID: 34733372 Free PMC article.

10

A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.

Khan K, Mehmood S, Liu C, Siddiqui M, Ahmad A, Faiz BY, Chioza BA, Baple EA, Ullah MI, Akram Z, Satti HS, Khan R, Harlalka GV, Jameel M, Akram T, Baig SM, Crosby AH, Hassan MJ, Zhang F, Davis EE, Khan TN. Khan K, et al. Among authors: hassan mj. Am J Med Genet A. 2022 Feb;188(2):498-508. doi: 10.1002/ajmg.a.62545. Epub 2021 Oct 25. Am J Med Genet A. 2022. PMID: 34697879

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