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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. Among authors: van bokhoven h, van de warrenburg bpc. 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.
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ, Ben-Salem S, de Bot ST, Nijhof B, van de Vondervoort II, van der Graaf M, Nobau AC, Otte-Höller I, Vermeer S, Smith AC, Humphreys P, Schwartzentruber J; FORGE Canada Consortium; Ali BR, Al-Yahyaee SA, Tariq S, Pramathan T, Bayoumi R, Kremer HP, van de Warrenburg BP, van den Akker WM, Gilissen C, Veltman JA, Janssen IM, Vulto-van Silfhout AT, van der Velde-Visser S, Lefeber DJ, Diekstra A, Erasmus CE, Willemsen MA, Vissers LE, Lammens M, van Bokhoven H, Brunner HG, Wevers RA, Schenck A, Al-Gazali L, de Vries BB, de Brouwer AP. Schuurs-Hoeijmakers JH, et al. Am J Hum Genet. 2012 Dec 7;91(6):1073-81. doi: 10.1016/j.ajhg.2012.10.017. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176823 Free PMC article.
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. Among authors: van roon mom wmc, van bokhoven h, van de warrenburg bpc. 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.
The complexities of CACNA1A in clinical neurogenetics.
Hommersom MP, van Prooije TH, Pennings M, Schouten MI, van Bokhoven H, Kamsteeg EJ, van de Warrenburg BPC. Hommersom MP, et al. Among authors: van prooije th, van bokhoven h, van de warrenburg bpc. J Neurol. 2022 Jun;269(6):3094-3108. doi: 10.1007/s00415-021-10897-9. Epub 2021 Nov 22. J Neurol. 2022. PMID: 34806130
CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.
Hommersom MP, Doorn N, Puvogel S, Lewerissa EI, Mordelt A, Ciptasari U, Kampshoff F, Dillen L, van Beusekom E, Oudakker A, Kogo N, Dolga AM, Frega M, Schubert D, van de Warrenburg BPC, Nadif Kasri N, van Bokhoven H. Hommersom MP, et al. Among authors: van de warrenburg bpc. Brain. 2024 Oct 26:awae330. doi: 10.1093/brain/awae330. Online ahead of print. Brain. 2024. PMID: 39460936
SnapShot: Biology of Genetic Ataxias.
Eidhof I, van de Warrenburg BP, Schenck A. Eidhof I, et al. Cell. 2018 Oct 18;175(3):890-890.e1. doi: 10.1016/j.cell.2018.10.017. Cell. 2018. PMID: 30340048 Free article. Review.
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmüller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N. Vermeer S, et al. Am J Hum Genet. 2010 Dec 10;87(6):813-9. doi: 10.1016/j.ajhg.2010.10.015. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21092923 Free PMC article.
A novel KCNA1 mutation causing episodic ataxia type I.
Lassche S, Lainez S, Bloem BR, van de Warrenburg BP, Hofmeijer J, Lemmink HH, Hoenderop JG, Bindels RJ, Drost G. Lassche S, et al. Muscle Nerve. 2014 Aug;50(2):289-91. doi: 10.1002/mus.24242. Epub 2014 Jul 14. Muscle Nerve. 2014. PMID: 24639406
Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.
Duarri A, Nibbeling EA, Fokkens MR, Meijer M, Boerrigter M, Verschuuren-Bemelmans CC, Kremer BP, van de Warrenburg BP, Dooijes D, Boddeke E, Sinke RJ, Verbeek DS. Duarri A, et al. PLoS One. 2015 Mar 10;10(3):e0116599. doi: 10.1371/journal.pone.0116599. eCollection 2015. PLoS One. 2015. PMID: 25756792 Free PMC article.
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability.
Wijnen IGM, Veenstra-Knol HE, Vansenne F, Gerkes EH, de Koning T, Vos YJ, Tijssen MAJ, Sival D, Darin N, Vanhoutte EK, Oosterloo M, Pennings M, van de Warrenburg BP, Kamsteeg EJ. Wijnen IGM, et al. Eur J Hum Genet. 2020 Jun;28(6):763-769. doi: 10.1038/s41431-020-0600-5. Epub 2020 Mar 10. Eur J Hum Genet. 2020. PMID: 32157189 Free PMC article.
366 results