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Page 1
Multiple Symmetrical Lipomatosis--a mitochondrial disorder of brown fat.
Plummer C, Spring PJ, Marotta R, Chin J, Taylor G, Sharpe D, Athanasou NA, Thyagarajan D, Berkovic SF. Plummer C, et al. Among authors: spring pj. Mitochondrion. 2013 Jul;13(4):269-76. doi: 10.1016/j.mito.2013.03.003. Epub 2013 Mar 20. Mitochondrion. 2013. PMID: 23524250
The neuro-otology of Susac syndrome.
Hardy TA, Taylor RL, Qiu J, O'Brien B, Gopinath S, Trewin B, Spring PJ, Shaffi M, Bolitho SJ, Garsia RJ, Roxburgh R, Mason DF, Ip J, Chan F, Chen L, Wilson I, Beadnall HN, Barnett MH, Parratt JDE, Watson JDG, Welgampola MS, Reddel SW, Tsang B, Halmagyi GM. Hardy TA, et al. J Neurol. 2020 Dec;267(12):3711-3722. doi: 10.1007/s00415-020-10086-0. Epub 2020 Jul 21. J Neurol. 2020. PMID: 32696340
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
Kumar KR, Cortese A, Tomlinson SE, Efthymiou S, Ellis M, Zhu D, Stoll M, Dominik N, Tisch S, Tchan M, Wu KHC, Devery S, Spring PJ, Hawke S, Cremer P, Ng K, Reilly MM, Nicholson GA, Houlden H, Kennerson M. Kumar KR, et al. Among authors: spring pj. Brain. 2020 Oct 1;143(10):e82. doi: 10.1093/brain/awaa244. Brain. 2020. PMID: 32949124 Free PMC article. No abstract available.
Diagnosis, differential diagnosis and misdiagnosis of Susac syndrome.
Triplett JD, Qiu J, O'Brien B, Gopinath S, Trewin B, Spring PJ, Shaffi M, Ip J, Chan F, Chen L, Wilson I, Muller C, Beadnall HN, Boggild M, Van der Walt A, Roxburgh R, Seery N, Kalincik T, Barnett MH, Parratt JDE, Reddel SW, Tsang B, Hardy TA. Triplett JD, et al. Among authors: spring pj. Eur J Neurol. 2022 Jun;29(6):1771-1781. doi: 10.1111/ene.15317. Epub 2022 Mar 25. Eur J Neurol. 2022. PMID: 35262238 Free PMC article.
Myosin storage (hyaline body) myopathy: a case report.
Shingde MV, Spring PJ, Maxwell A, Wills EJ, Harper CG, Dye DE, Laing NG, North KN. Shingde MV, et al. Neuromuscul Disord. 2006 Dec;16(12):882-6. doi: 10.1016/j.nmd.2006.09.001. Epub 2006 Nov 21. Neuromuscul Disord. 2006. PMID: 17118657
156 results