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AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
Edgerley K, Barnicoat A, Offiah AC, Calder AD, Mankad K, Thomas NS, Bunyan DJ, Williams M, Buxton C, Majumdar A, Vijayakumar K, Hilliard T, Turner J, Burren CP, Monsell F, Smithson SF. Edgerley K, et al. Among authors: vijayakumar k. Am J Med Genet A. 2021 Apr;185(4):1228-1235. doi: 10.1002/ajmg.a.62072. Epub 2021 Jan 13. Am J Med Genet A. 2021. PMID: 33439541 Free article.
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.
Low KJ, Stals K, Caswell R, Wakeling M, Clayton-Smith J, Donaldson A, Foulds N, Norman A, Splitt M, Urankar K, Vijayakumar K, Majumdar A, Study D, Ellard S, Smithson SF. Low KJ, et al. Among authors: vijayakumar k. Eur J Hum Genet. 2018 Jun;26(6):796-807. doi: 10.1038/s41431-018-0110-x. Epub 2018 Mar 6. Eur J Hum Genet. 2018. PMID: 29511323 Free PMC article.
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Van Gucht I, Meester JAN, Bento JR, Bastiaansen M, Bastianen J, Luyckx I, Van Den Heuvel L, Neutel CHG, Guns PJ, Vermont M, Fransen E, Perik MHAM, Velchev JD, Alaerts M, Schepers D, Peeters S, Pintelon I, Almesned A, Ferla MP, Taylor JC, Dallosso AR, Williams M, Evans J; Genomics England Research Consortium; Rosenfeld JA, Sluysmans T, Rodrigues D, Chikermane A, Bharmappanavara G, Vijayakumar K, Mottaghi Moghaddam Shahri H, Hashemi N, Torbati PN, Toosi MB, Al-Hassnan ZN, Vogt J, Revencu N, Maystadt I, Miller EM, Weaver KN, Begtrup A, Houlden H, Murphy D, Maroofian R, Pagnamenta AT, Van Laer L, Loeys BL, Verstraeten A. Van Gucht I, et al. Among authors: vijayakumar k. Am J Hum Genet. 2021 Jun 3;108(6):1115-1125. doi: 10.1016/j.ajhg.2021.04.019. Epub 2021 May 18. Am J Hum Genet. 2021. PMID: 34010605 Free PMC article.
Clinical Reasoning: Complex ataxia: Unpicking the threads.
Abkur T, Vijayakumar K, Churchill AJ, Stevens J. Abkur T, et al. Among authors: vijayakumar k. Neurology. 2020 Jul 21;95(3):136-141. doi: 10.1212/WNL.0000000000009886. Epub 2020 Jul 6. Neurology. 2020. PMID: 32631919 No abstract available.
Clinical features, course, and outcomes of a UK cohort of pediatric moyamoya.
Tho-Calvi SC, Thompson D, Saunders D, Agrawal S, Basu A, Chitre M, Chow G, Gibbon F, Hart A, Tallur KK, Kirkham F, Kneen R, McCullagh H, Mewasingh L, Vassallo G, Vijayakumar K, Wraige E, Yeo TH, Ganesan V; British Paediatric Neurology Association Moyamoya Study group. Tho-Calvi SC, et al. Among authors: vijayakumar k. Neurology. 2018 Feb 27;90(9):e763-e770. doi: 10.1212/WNL.0000000000005026. Neurology. 2018. PMID: 29483323
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.
Coppens S, Deconinck N, Sullivan P, Smolnikov A, Clayton JS, Griffin KR, Jones KJ, Vilain CN, Kadhim H, Bryen SJ, Faiz F, Waddell LB, Evesson FJ, Bakshi M, Pinner JR, Charlton A, Brammah S, Graf NS, Krivanek M, Tay CG, Foulds NC, Illingworth MA, Thomas NH, Ellard S, Mazanti I, Park SM, French CE, Brewster J, Belteki G, Hoodbhoy S, Allinson K, Krishnakumar D, Baynam G, Wood BM, Ward M, Vijayakumar K, Syed A, Murugan A, Majumdar A, Scurr IJ, Splitt MP, Moldovan C, de Silva DC, Senanayake K, Gardeitchik T, Arens Y, Cooper ST, Laing NG, Raymond FL, Jungbluth H, Kamsteeg EJ, Manzur A, Corley SM, Ravenscroft G, Wilkins MR, Cowley MJ, Pinese M; Titin Research Consortium; Phadke R, Davis MR, Muntoni F, Oates EC. Coppens S, et al. Among authors: vijayakumar k. Ann Neurol. 2025 Apr;97(4):611-628. doi: 10.1002/ana.27087. Epub 2025 Jan 24. Ann Neurol. 2025. PMID: 39853809 Free PMC article.
191 results