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Oculoleptomeningeal Amyloidosis associated with transthyretin Leu12Pro in an African patient.
McColgan P, Viegas S, Gandhi S, Bull K, Tudor R, Sheikh F, Pinney J, Fontana M, Rowczenio D, Gillmore JD, Gilbertson JA, Whelan CJ, Shah S, Jaunmuktane Z, Holton JL, Schott JM, Werring DJ, Hawkins PN, Reilly MM. McColgan P, et al. Among authors: shah s. J Neurol. 2015 Jan;262(1):228-34. doi: 10.1007/s00415-014-7594-2. Epub 2014 Dec 9. J Neurol. 2015. PMID: 25488473 Free PMC article.
Spinal Stenosis in Familial Transthyretin Amyloidosis.
Carr AS, Shah S, Choi D, Blake J, Phadke R, Gilbertson J, Whelan CJ, Wechalekar AD, Gillmore JD, Hawkins PN, Reilly MM. Carr AS, et al. Among authors: shah s. J Neuromuscul Dis. 2019;6(2):267-270. doi: 10.3233/JND-180348. J Neuromuscul Dis. 2019. PMID: 30856118
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study.
Adams D, Polydefkis M, González-Duarte A, Wixner J, Kristen AV, Schmidt HH, Berk JL, Losada López IA, Dispenzieri A, Quan D, Conceição IM, Slama MS, Gillmore JD, Kyriakides T, Ajroud-Driss S, Waddington-Cruz M, Mezei MM, Planté-Bordeneuve V, Attarian S, Mauricio E, Brannagan TH 3rd, Ueda M, Aldinc E, Wang JJ, White MT, Vest J, Berber E, Sweetser MT, Coelho T; patisiran Global OLE study group. Adams D, et al. Lancet Neurol. 2021 Jan;20(1):49-59. doi: 10.1016/S1474-4422(20)30368-9. Epub 2020 Nov 16. Lancet Neurol. 2021. PMID: 33212063 Clinical Trial.
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