Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

167 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.
Nalbandian A, Donkervoort S, Dec E, Badadani M, Katheria V, Rana P, Nguyen C, Mukherjee J, Caiozzo V, Martin B, Watts GD, Vesa J, Smith C, Kimonis VE. Nalbandian A, et al. Among authors: donkervoort s. J Mol Neurosci. 2011 Nov;45(3):522-31. doi: 10.1007/s12031-011-9627-y. Epub 2011 Sep 3. J Mol Neurosci. 2011. PMID: 21892620 Review.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D. Nascimento A, et al. Among authors: donkervoort s. Acta Neuropathol. 2023 Apr;145(4):479-496. doi: 10.1007/s00401-023-02551-7. Epub 2023 Feb 17. Acta Neuropathol. 2023. PMID: 36799992 Free PMC article.
Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.
Mehta SG, Khare M, Ramani R, Watts GD, Simon M, Osann KE, Donkervoort S, Dec E, Nalbandian A, Platt J, Pasquali M, Wang A, Mozaffar T, Smith CD, Kimonis VE. Mehta SG, et al. Among authors: donkervoort s. Clin Genet. 2013 May;83(5):422-31. doi: 10.1111/cge.12000. Epub 2012 Oct 4. Clin Genet. 2013. PMID: 22909335 Free PMC article.
Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology.
Gold JA, Ruth C, Osann K, Flodman P, McManus B, Lee HS, Donkervoort S, Khare M, Roof E, Dykens E, Miller JL, Driscoll DJ, Butler MG, Heinemann J, Cassidy S, Kimonis VE. Gold JA, et al. Among authors: donkervoort s. Genet Med. 2014 Feb;16(2):164-9. doi: 10.1038/gim.2013.97. Epub 2013 Aug 8. Genet Med. 2014. PMID: 23928912 Free PMC article.
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.
Esmailpour T, Riazifar H, Liu L, Donkervoort S, Huang VH, Madaan S, Shoucri BM, Busch A, Wu J, Towbin A, Chadwick RB, Sequeira A, Vawter MP, Sun G, Johnston JJ, Biesecker LG, Kawaguchi R, Sun H, Kimonis V, Huang T. Esmailpour T, et al. Among authors: donkervoort s. J Med Genet. 2014 Mar;51(3):185-96. doi: 10.1136/jmedgenet-2013-101660. Epub 2014 Jan 15. J Med Genet. 2014. PMID: 24431331 Free PMC article.
Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia.
Surampalli A, Khare M, Kubrussi G, Wencel M, Tanaja J, Donkervoort S, Osann K, Simon M, Wallace D, Smith C, M McInerney-Leo A, Kimonis V. Surampalli A, et al. Among authors: donkervoort s. J Genet Couns. 2015 Oct;24(5):842-50. doi: 10.1007/s10897-015-9819-7. Epub 2015 Feb 26. J Genet Couns. 2015. PMID: 25716352 Free PMC article.
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
Fecto F, Yan J, Vemula SP, Liu E, Yang Y, Chen W, Zheng JG, Shi Y, Siddique N, Arrat H, Donkervoort S, Ajroud-Driss S, Sufit RL, Heller SL, Deng HX, Siddique T. Fecto F, et al. Among authors: donkervoort s. Arch Neurol. 2011 Nov;68(11):1440-6. doi: 10.1001/archneurol.2011.250. Arch Neurol. 2011. PMID: 22084127
167 results