Iqbal Z - Search Results

1

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.

Saadi SM, Cali E, Khalid LB, Yousaf H, Zafar G, Khan HN, Sher M, Vona B, Abdullah U, Malik NA, Klar J, Efthymiou S, Dahl N, Houlden H, Toft M, Baig SM, Fatima A, Iqbal Z. Saadi SM, et al. Among authors: iqbal z. Genes (Basel). 2023 Jul 6;14(7):1404. doi: 10.3390/genes14071404. Genes (Basel). 2023. PMID: 37510308 Free PMC article.

2

A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family.

Yousaf H, Fatima A, Ali Z, Baig SM, Toft M, Iqbal Z. Yousaf H, et al. Among authors: iqbal z. Genes (Basel). 2022 Sep 17;13(9):1667. doi: 10.3390/genes13091667. Genes (Basel). 2022. PMID: 36140834 Free PMC article.

3

CHCHD2 and Parkinson's disease.

Iqbal Z, Toft M. Iqbal Z, et al. Lancet Neurol. 2015 Jul;14(7):680-1. doi: 10.1016/S1474-4422(15)00096-4. Lancet Neurol. 2015. PMID: 26067113 Free article. No abstract available.

4

TMEM230 variants in Parkinson's disease.

Iqbal Z, Toft M. Iqbal Z, et al. Nat Genet. 2019 Mar;51(3):366. doi: 10.1038/s41588-019-0353-7. Nat Genet. 2019. PMID: 30804555 No abstract available.

5

Rare variants in dementia genes and Parkinson's disease.

Iqbal Z, Pihlstrøm L, Rengmark A, Henriksen SP, Linder J, Forsgren L, Toft M. Iqbal Z, et al. Eur J Hum Genet. 2016 Dec;24(12):1661-1662. doi: 10.1038/ejhg.2016.79. Epub 2016 Jun 22. Eur J Hum Genet. 2016. PMID: 27329738 Free PMC article. No abstract available.

6

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.

Iqbal Z, Rydning SL, Wedding IM, Koht J, Pihlstrøm L, Rengmark AH, Henriksen SP, Tallaksen CM, Toft M. Iqbal Z, et al. PLoS One. 2017 Mar 31;12(3):e0174667. doi: 10.1371/journal.pone.0174667. eCollection 2017. PLoS One. 2017. PMID: 28362824 Free PMC article.

7

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Riazuddin S, Hussain M, Razzaq A, Iqbal Z, Shahzad M, Polla DL, Song Y, van Beusekom E, Khan AA, Tomas-Roca L, Rashid M, Zahoor MY, Wissink-Lindhout WM, Basra MAR, Ansar M, Agha Z, van Heeswijk K, Rasheed F, Van de Vorst M, Veltman JA, Gilissen C, Akram J, Kleefstra T, Assir MZ; UK10K; Grozeva D, Carss K, Raymond FL, O'Connor TD, Riazuddin SA, Khan SN, Ahmed ZM, de Brouwer APM, van Bokhoven H, Riazuddin S. Riazuddin S, et al. Among authors: iqbal z. Mol Psychiatry. 2017 Nov;22(11):1604-1614. doi: 10.1038/mp.2016.109. Epub 2016 Jul 26. Mol Psychiatry. 2017. PMID: 27457812 Free PMC article.

8

Identifying genes responsible for intellectual disability in consanguineous families.

Iqbal Z, van Bokhoven H. Iqbal Z, et al. Hum Hered. 2014;77(1-4):150-60. doi: 10.1159/000360539. Epub 2014 Jul 29. Hum Hered. 2014. PMID: 25060278 Free article.

9

Missense mutations in DYT-TOR1A dystonia.

Iqbal Z, Koht J, Pihlstrøm L, Henriksen SP, Cappelletti C, Russel MB, Norberto de Souza O, Skogseid IM, Toft M. Iqbal Z, et al. Neurol Genet. 2019 Jun 6;5(4):e343. doi: 10.1212/NXG.0000000000000343. eCollection 2019 Aug. Neurol Genet. 2019. PMID: 31321303 Free PMC article. No abstract available.

10

A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family.

Basit S, Iqbal Z, Umicevic-Mirkov M, Kamran Ul-Hassan Naqvi S, Coenen M, Ansar M, van Bokhoven H, Ahmad W. Basit S, et al. Among authors: iqbal z. Arch Med Res. 2011 Feb;42(2):110-4. doi: 10.1016/j.arcmed.2011.04.006. Arch Med Res. 2011. PMID: 21565623

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