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The complexities of CACNA1A in clinical neurogenetics.
J Neurol. 2022 Jun;269(6):3094-3108. doi: 10.1007/s00415-021-10897-9. Epub 2021 Nov 22.
J Neurol. 2022.
PMID: 34806130
Generation of induced pluripotent stem cell lines carrying monoallelic (UCSFi001-A-60) or biallelic (UCSFi001-A-61; UCSFi001-A-62) frameshift variants in CACNA1A using CRISPR/Cas9.
Hommersom MP, Bijnagte-Schoenmaker C, Albert S, van de Warrenburg BPC, Nadif Kasri N, van Bokhoven H.
Hommersom MP, et al.
Stem Cell Res. 2022 May;61:102730. doi: 10.1016/j.scr.2022.102730. Epub 2022 Feb 26.
Stem Cell Res. 2022.
PMID: 35286975
Free article.
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Human Induced Pluripotent Stem Cell-Based Modelling of Spinocerebellar Ataxias.
Hommersom MP, Buijsen RAM, van Roon-Mom WMC, van de Warrenburg BPC, van Bokhoven H.
Hommersom MP, et al.
Stem Cell Rev Rep. 2022 Feb;18(2):441-456. doi: 10.1007/s12015-021-10184-0. Epub 2021 May 25.
Stem Cell Rev Rep. 2022.
PMID: 34031815
Free PMC article.
Review.
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Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Polla DL, Edmondson AC, Duvet S, March ME, Sousa AB, Lehman A; CAUSES Study; Niyazov D, van Dijk F, Demirdas S, van Slegtenhorst MA, Kievit AJA, Schulz C, Armstrong L, Bi X, Rader DJ, Izumi K, Zackai EH, de Franco E, Jorge P, Huffels SC, Hommersom M, Ellard S, Lefeber DJ, Santani A, Hand NJ, van Bokhoven H, He M, de Brouwer APM.
Polla DL, et al.
Am J Hum Genet. 2021 Jul 1;108(7):1342-1349. doi: 10.1016/j.ajhg.2021.05.010. Epub 2021 Jun 17.
Am J Hum Genet. 2021.
PMID: 34143952
Free PMC article.
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Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders.
Linda K, Lewerissa EI, Verboven AHA, Gabriele M, Frega M, Klein Gunnewiek TM, Devilee L, Ulferts E, Hommersom M, Oudakker A, Schoenmaker C, van Bokhoven H, Schubert D, Testa G, Koolen DA, de Vries BBA, Nadif Kasri N.
Linda K, et al.
Autophagy. 2022 Feb;18(2):423-442. doi: 10.1080/15548627.2021.1936777. Epub 2021 Jul 21.
Autophagy. 2022.
PMID: 34286667
Free PMC article.
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Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1.
Dillen L, Fatima N, Hommersom MP, Çepni E, Fatima F, van Beusekom E, Albert S, van Hagen JM, de Vries BBA, Khan AA, de Brouwer APM, van Bokhoven H.
Dillen L, et al. Among authors: hommersom mp.
Stem Cell Res. 2024 Jun;77:103442. doi: 10.1016/j.scr.2024.103442. Epub 2024 May 9.
Stem Cell Res. 2024.
PMID: 38739972
Free article.
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