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Page 1
Untangling a case of painful neuropathy.
Keddie S, Fehmi J, Jaunmuktane Z, D'Sa S, Stevens JC, Lunn MP. Keddie S, et al. Among authors: jaunmuktane z. Pract Neurol. 2020 Feb;20(1):50-54. doi: 10.1136/practneurol-2019-002370. Epub 2019 Oct 4. Pract Neurol. 2020. PMID: 31585979 No abstract available.
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H. Cottenie E, et al. Among authors: jaunmuktane z. Am J Hum Genet. 2014 Nov 6;95(5):590-601. doi: 10.1016/j.ajhg.2014.10.002. Epub 2014 Oct 30. Am J Hum Genet. 2014. PMID: 25439726 Free PMC article.
Leprosy in a patient infected with HIV.
Galtrey CM, Modarres H, Jaunmuktane Z, Brandner S, Rossor AM, Lockwood DN, Reilly MM, Manji H, Schon F. Galtrey CM, et al. Among authors: jaunmuktane z. Pract Neurol. 2017 Apr;17(2):135-139. doi: 10.1136/practneurol-2016-001519. Epub 2016 Dec 9. Pract Neurol. 2017. PMID: 27941127
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Horga A, Laurà M, Jaunmuktane Z, Jerath NU, Gonzalez MA, Polke JM, Poh R, Blake JC, Liu YT, Wiethoff S, Bettencourt C, Lunn MP, Manji H, Hanna MG, Houlden H, Brandner S, Züchner S, Shy M, Reilly MM. Horga A, et al. Among authors: jaunmuktane z. J Neurol Neurosurg Psychiatry. 2017 Jul;88(7):575-585. doi: 10.1136/jnnp-2016-315077. Epub 2017 May 13. J Neurol Neurosurg Psychiatry. 2017. PMID: 28501821 Free PMC article.
A diagnostic conundrum.
Keddie S, Jaunmuktane Z, Brandner S, Shah S, Maddison P, Rees JH, Hanna MG, Lunn MPT, Reilly MM, Rossor AM, Carr AS. Keddie S, et al. Among authors: jaunmuktane z. Pract Neurol. 2018 Apr;18(2):137-142. doi: 10.1136/practneurol-2017-001801. Epub 2018 Jan 23. Pract Neurol. 2018. PMID: 29363556 Free PMC article.
Diagnosis of amyloid neuropathy.
Kapoor M, Rossor AM, Jaunmuktane Z, Lunn MPT, Reilly MM. Kapoor M, et al. Among authors: jaunmuktane z. Pract Neurol. 2019 Jun;19(3):250-258. doi: 10.1136/practneurol-2018-002098. Epub 2018 Dec 30. Pract Neurol. 2019. PMID: 30598431 Review.
Peripheral nerve neurolymphomatosis: Clinical features, treatment, and outcomes.
Keddie S, Nagendran A, Cox T, Bomsztyk J, Jaunmuktane Z, Brandner S, Manji H, Rees JH, Ramsay AD, Rossor A, D'Sa S, Reilly MM, Carr AS, Lunn MP. Keddie S, et al. Among authors: jaunmuktane z. Muscle Nerve. 2020 Nov;62(5):617-625. doi: 10.1002/mus.27045. Epub 2020 Sep 10. Muscle Nerve. 2020. PMID: 32786031
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Among authors: jaunmuktane z. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
157 results