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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2006 1
2013 2
2014 2
2015 3
2017 1
2019 1
2020 4
2021 1
2022 1
2023 2
2024 0

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18 results

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Page 1
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium; Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Cortese A, et al. Among authors: sowden je. Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4. Nat Genet. 2020. PMID: 32367058 Free PMC article.
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN). Pipis M, et al. Brain. 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. Brain. 2020. PMID: 33415332 Free PMC article.
Reliability of the Charcot-Marie-Tooth functional outcome measure.
Bray P, Cornett KMD, Estilow T, Pareyson D, Zuccarino R, Skorupinska M, Pipis M, Sowden JE, Scherer S, Reilly MM, Shy ME, Herrmann DN, Burns J, Eichinger KJ. Bray P, et al. Among authors: sowden je. J Peripher Nerv Syst. 2020 Sep;25(3):288-291. doi: 10.1111/jns.12406. Epub 2020 Aug 26. J Peripher Nerv Syst. 2020. PMID: 32844461 Free PMC article.
Measuring peripheral nerve involvement in Friedreich's ataxia.
Creigh PD, Mountain J, Sowden JE, Eichinger K, Ravina B, Larkindale J, Herrmann DN. Creigh PD, et al. Among authors: sowden je. Ann Clin Transl Neurol. 2019 Sep;6(9):1718-1727. doi: 10.1002/acn3.50865. Epub 2019 Aug 15. Ann Clin Transl Neurol. 2019. PMID: 31414727 Free PMC article.
Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease.
Donlevy GA, Garnett SP, Cornett KMD, McKay MJ, Baldwin JN, Shy RR, Yum SW, Estilow T, Moroni I, Foscan M, Pagliano E, Pareyson D, Laura M, Bhandari T, Muntoni F, Reilly MM, Finkel RS, Sowden JE, Eichinger KJ, Herrmann DN, Shy ME, Burns J, Menezes MP. Donlevy GA, et al. Among authors: sowden je. Neurology. 2021 Oct 26;97(17):e1727-e1736. doi: 10.1212/WNL.0000000000012725. Epub 2021 Sep 7. Neurology. 2021. PMID: 34493614 Free PMC article.
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.
Whittaker RG, Herrmann DN, Bansagi B, Hasan BA, Lofra RM, Logigian EL, Sowden JE, Almodovar JL, Littleton JT, Zuchner S, Horvath R, Lochmüller H. Whittaker RG, et al. Among authors: sowden je. Neurology. 2015 Dec 1;85(22):1964-71. doi: 10.1212/WNL.0000000000002185. Epub 2015 Oct 30. Neurology. 2015. PMID: 26519543 Free PMC article.
18 results