Similar articles for PMID: 24126608

Year	Number of Results
2000	2
2005	1
2006	1
2007	2
2008	1
2009	4
2010	1
2011	4
2012	5
2013	6
2014	10
2015	18
2016	14
2017	11
2018	12
2019	15
2020	5
2021	16
2022	13
2023	6
2024	1

1

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.

Gonzaga-Jauregui C, Lotze T, Jamal L, Penney S, Campbell IM, Pehlivan D, Hunter JV, Woodbury SL, Raymond G, Adesina AM, Jhangiani SN, Reid JG, Muzny DM, Boerwinkle E, Lupski JR, Gibbs RA, Wiszniewski W. Gonzaga-Jauregui C, et al. JAMA Neurol. 2013 Dec;70(12):1491-8. doi: 10.1001/jamaneurol.2013.4598. JAMA Neurol. 2013. PMID: 24126608 Free PMC article.

2

A novel VRK1 mutation associated with recessive distal hereditary motor neuropathy.

Feng SY, Li LY, Feng SM, Zou ZY. Feng SY, et al. Ann Clin Transl Neurol. 2018 Dec 3;6(2):401-405. doi: 10.1002/acn3.701. eCollection 2019 Feb. Ann Clin Transl Neurol. 2018. PMID: 30847374 Free PMC article.

3

Identification of a homozygous VRK1 mutation in two patients with adult-onset distal hereditary motor neuropathy.

Greenbaum L, Barel O, Nikitin V, Hersalis-Eldar A, Kol N, Reznik-Wolf H, Dominissini D, Pras E, Dori A. Greenbaum L, et al. Muscle Nerve. 2020 Mar;61(3):395-400. doi: 10.1002/mus.26779. Epub 2020 Jan 16. Muscle Nerve. 2020. PMID: 31837156

4

Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.

Sedghi M, Moslemi AR, Olive M, Etemadifar M, Ansari B, Nasiri J, Emrahi L, Mianesaz HR, Laing NG, Tajsharghi H. Sedghi M, et al. Ann Clin Transl Neurol. 2019 Nov;6(11):2197-2204. doi: 10.1002/acn3.50912. Epub 2019 Sep 27. Ann Clin Transl Neurol. 2019. PMID: 31560180 Free PMC article.

5

Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia.

Stoll M, Teoh H, Lee J, Reddel S, Zhu Y, Buckley M, Sampaio H, Roscioli T, Farrar M, Nicholson G. Stoll M, et al. Neurology. 2016 Jul 5;87(1):65-70. doi: 10.1212/WNL.0000000000002813. Epub 2016 Jun 8. Neurology. 2016. PMID: 27281532 Free PMC article.

6

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.

Moawia A, Shaheen R, Rasool S, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Irshad S, Höhne W, Noegel AA, Al-Owain M, Hörtnagel K, Stöbe P, Baig SM, Nürnberg P, Alkuraya FS, Hahn A, Hussain MS. Moawia A, et al. Ann Neurol. 2017 Oct;82(4):562-577. doi: 10.1002/ana.25044. Epub 2017 Oct 14. Ann Neurol. 2017. PMID: 28892560

7

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.

Heimer G, Marek-Yagel D, Eyal E, Barel O, Oz Levi D, Hoffmann C, Ruzzo EK, Ganelin-Cohen E, Lancet D, Pras E, Rechavi G, Nissenkorn A, Anikster Y, Goldstein DB, Ben Zeev B. Heimer G, et al. Clin Genet. 2015 Oct;88(4):327-35. doi: 10.1111/cge.12637. Epub 2015 Jul 28. Clin Genet. 2015. PMID: 26138499

8

A novel mutation in VRK1 associated with distal spinal muscular atrophy.

Li N, Wang L, Sun X, Lu Z, Suo X, Li J, Peng J, Peng R. Li N, et al. J Hum Genet. 2019 Mar;64(3):215-219. doi: 10.1038/s10038-018-0553-5. Epub 2019 Jan 7. J Hum Genet. 2019. PMID: 30617279

9

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.

Tucci A, Liu YT, Preza E, Pitceathly RD, Chalasani A, Plagnol V, Land JM, Trabzuni D, Ryten M; UKBEC; Jaunmuktane Z, Reilly MM, Brandner S, Hargreaves I, Hardy J, Singleton AB, Abramov AY, Houlden H. Tucci A, et al. J Neurol Neurosurg Psychiatry. 2014 May;85(5):486-92. doi: 10.1136/jnnp-2013-306387. Epub 2013 Nov 6. J Neurol Neurosurg Psychiatry. 2014. PMID: 24198383 Free PMC article.

10

VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes.

Martín-Doncel E, Rojas AM, Cantarero L, Lazo PA. Martín-Doncel E, et al. Sci Rep. 2019 Sep 16;9(1):13381. doi: 10.1038/s41598-019-49821-7. Sci Rep. 2019. PMID: 31527692 Free PMC article.

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