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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: urankar 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.
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Bryen SJ, Ewans LJ, Pinner J, MacLennan SC, Donkervoort S, Castro D, Töpf A, O'Grady G, Cummings B, Chao KR, Weisburd B, Francioli L, Faiz F, Bournazos AM, Hu Y, Grosmann C, Malicki DM, Doyle H, Witting N, Vissing J, Claeys KG, Urankar K, Beleza-Meireles A, Baptista J, Ellard S, Savarese M, Johari M, Vihola A, Udd B, Majumdar A, Straub V, Bönnemann CG, MacArthur DG, Davis MR, Cooper ST. Bryen SJ, et al. Among authors: urankar k. Hum Mutat. 2020 Feb;41(2):403-411. doi: 10.1002/humu.23938. Epub 2019 Dec 3. Hum Mutat. 2020. PMID: 31660661 Free PMC article.
A rare case of adult onset LPIN1 associated rhabdomyolysis.
Minton T, Forrester N, Baba SA, Urankar K, Brady S. Minton T, et al. Among authors: urankar k. Neuromuscul Disord. 2020 Mar;30(3):241-245. doi: 10.1016/j.nmd.2020.01.004. Epub 2020 Jan 30. Neuromuscul Disord. 2020. PMID: 32115342
Proliferative myositis - a rare inflammatory myopathy mimic.
Austin K, Urankar K, Walton E, Gunawardena H. Austin K, et al. Among authors: urankar k. Rheumatology (Oxford). 2021 Apr 6;60(4):2031-2032. doi: 10.1093/rheumatology/keaa635. Rheumatology (Oxford). 2021. PMID: 33159801 No abstract available.
Brain biopsy before or after treatment with corticosteroids?
Rice CM, Renowden SA, Urankar K, Love S, Scolding NJ. Rice CM, et al. Among authors: urankar k. Neuroradiology. 2020 May;62(5):545-546. doi: 10.1007/s00234-020-02381-4. Epub 2020 Feb 24. Neuroradiology. 2020. PMID: 32095871 No abstract available.
15 results