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Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21.
Ann Neurol. 2020.
PMID: 32808683
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
O'Grady GL, Verschuuren C, Yuen M, Webster R, Menezes M, Fock JM, Pride N, Best HA, Benavides Damm T, Turner C, Lek M, Engel AG, North KN, Clarke NF, MacArthur DG, Kamsteeg EJ, Cooper ST.
O'Grady GL, et al. Among authors: verschuuren c.
Neurology. 2016 Oct 4;87(14):1442-1448. doi: 10.1212/WNL.0000000000003179. Epub 2016 Sep 2.
Neurology. 2016.
PMID: 27590285
Free PMC article.
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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Pennings M, Schouten MI, van Gaalen J, Meijer RPP, de Bot ST, Kriek M, Saris CGJ, van den Berg LH, van Es MA, Zuidgeest DMH, Elting MW, van de Kamp JM, van Spaendonck-Zwarts KY, Die-Smulders C, Brilstra EH, Verschuuren CC, de Vries BBA, Bruijn J, Sofou K, Duijkers FA, Jaeger B, Schieving JH, van de Warrenburg BP, Kamsteeg EJ.
Pennings M, et al. Among authors: verschuuren cc.
Eur J Hum Genet. 2020 Jan;28(1):40-49. doi: 10.1038/s41431-019-0497-z. Epub 2019 Sep 5.
Eur J Hum Genet. 2020.
PMID: 31488895
Free PMC article.
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Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, de Visser M, Verschuuren C, Lunardi J.
Monnier N, et al. Among authors: verschuuren c.
Hum Mutat. 2008 May;29(5):670-8. doi: 10.1002/humu.20696.
Hum Mutat. 2008.
PMID: 18253926
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Identification of healthspan-promoting genes in Caenorhabditis elegans based on a human GWAS study.
Saul N, Dhondt I, Kuokkanen M, Perola M, Verschuuren C, Wouters B, von Chrzanowski H, De Vos WH, Temmerman L, Luyten W, Zečić A, Loier T, Schmitz-Linneweber C, Braeckman BP.
Saul N, et al. Among authors: verschuuren c.
Biogerontology. 2022 Aug;23(4):431-452. doi: 10.1007/s10522-022-09969-8. Epub 2022 Jun 24.
Biogerontology. 2022.
PMID: 35748965
Free PMC article.
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Prediction of biological age by morphological staging of sarcopenia in Caenorhabditis elegans.
Dhondt I, Verschuuren C, Zečić A, Loier T, Braeckman BP, De Vos WH.
Dhondt I, et al. Among authors: verschuuren c.
Dis Model Mech. 2021 Nov 1;14(11):dmm049169. doi: 10.1242/dmm.049169. Epub 2021 Nov 30.
Dis Model Mech. 2021.
PMID: 34723324
Free PMC article.
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