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Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease.
Kulshrestha R, Burton-Jones S, Antoniadi T, Rogers M, Jaunmuktane Z, Brandner S, Kiely N, Manuel R, Willis T. Kulshrestha R, et al. Among authors: willis t. Neuromuscul Disord. 2017 Aug;27(8):766-770. doi: 10.1016/j.nmd.2017.05.001. Epub 2017 May 4. Neuromuscul Disord. 2017. PMID: 28601552
Pancreatitis in RYR1-related disorders.
Famili DT, Mistry A, Gerasimenko O, Gerasimenko J, Tribe RM, Kyrana E, Dhawan A, Goldberg MF, Voermans N, Willis T, Jungbluth H. Famili DT, et al. Among authors: willis t. Neuromuscul Disord. 2023 Oct;33(10):769-775. doi: 10.1016/j.nmd.2023.09.003. Epub 2023 Sep 16. Neuromuscul Disord. 2023. PMID: 37783627 Free article.
Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.
Morís G, Wood L, FernáNdez-Torrón R, González Coraspe JA, Turner C, Hilton-Jones D, Norwood F, Willis T, Parton M, Rogers M, Hammans S, Roberts M, Househam E, Williams M, Lochmüller H, Evangelista T. Morís G, et al. Among authors: willis t. Muscle Nerve. 2018 Mar;57(3):380-387. doi: 10.1002/mus.25991. Epub 2017 Nov 7. Muscle Nerve. 2018. PMID: 29053898 Free PMC article.
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK.
Figueroa-Bonaparte S, Hudson J, Barresi R, Polvikoski T, Williams T, Töpf A, Harris E, Hilton-Jones D, Petty R, Willis TA, Longman C, Dougan CF, Parton MJ, Hanna MG, Quinlivan R, Farrugia ME, Guglieri M, Bushby K, Straub V, Lochmüller H, Evangelista T. Figueroa-Bonaparte S, et al. Among authors: willis ta. J Neurol Neurosurg Psychiatry. 2016 Jun;87(6):680-1. doi: 10.1136/jnnp-2015-310362. Epub 2015 Jun 23. J Neurol Neurosurg Psychiatry. 2016. PMID: 26105173 Free PMC article. No abstract available.
Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.
Evangelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, Hudson J, Norwood F, Orrell R, Willis T, Hilton-Jones D, Rafferty K, Guglieri M, Lochmüller H. Evangelista T, et al. Among authors: willis t. J Neurol. 2016 Jul;263(7):1401-8. doi: 10.1007/s00415-016-8132-1. Epub 2016 May 9. J Neurol. 2016. PMID: 27159994 Free PMC article.
304 results