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111 results

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Page 1
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Cortese A, et al. Among authors: rossor am. Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29. Nat Genet. 2019. PMID: 30926972 Free PMC article.
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: rossor am. 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.
The distal hereditary motor neuropathies.
Rossor AM, Kalmar B, Greensmith L, Reilly MM. Rossor AM, et al. J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):6-14. doi: 10.1136/jnnp-2011-300952. Epub 2011 Oct 25. J Neurol Neurosurg Psychiatry. 2012. PMID: 22028385 Review.
Neurological update: hereditary neuropathies.
Kramarz C, Rossor AM. Kramarz C, et al. Among authors: rossor am. J Neurol. 2022 Sep;269(9):5187-5191. doi: 10.1007/s00415-022-11164-1. Epub 2022 May 21. J Neurol. 2022. PMID: 35596796 Free PMC article. Review.
Blood biomarkers of peripheral neuropathy.
Rossor AM, Reilly MM. Rossor AM, et al. Acta Neurol Scand. 2022 Oct;146(4):325-331. doi: 10.1111/ane.13650. Epub 2022 May 25. Acta Neurol Scand. 2022. PMID: 35611606 Free PMC article. Review.
Nutritional peripheral neuropathies.
Kramarz C, Murphy E, Reilly MM, Rossor AM. Kramarz C, et al. Among authors: rossor am. J Neurol Neurosurg Psychiatry. 2023 Dec 14;95(1):61-72. doi: 10.1136/jnnp-2022-329849. J Neurol Neurosurg Psychiatry. 2023. PMID: 37536924 Review.
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. Among authors: rossor am. Brain. 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. Brain. 2020. PMID: 33415332 Free PMC article.
Toxic neuropathies.
Rossor AM, Manji H. Rossor AM, et al. Curr Opin Neurol. 2023 Oct 1;36(5):402-409. doi: 10.1097/WCO.0000000000001193. Epub 2023 Aug 2. Curr Opin Neurol. 2023. PMID: 37639472 Review.
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: rossor am. 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.
Toxic neuropathies: a practical approach.
Smyth D, Kramarz C, Carr AS, Rossor AM, Lunn MP. Smyth D, et al. Among authors: rossor am. Pract Neurol. 2023 Apr;23(2):120-130. doi: 10.1136/pn-2022-003444. Epub 2023 Jan 25. Pract Neurol. 2023. PMID: 36697225 Review.
111 results