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Page 1
Did you mean piris m[au] (495 results)?
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: pipis m. 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 integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy.
Spaulding EL, Hines TJ, Bais P, Tadenev ALD, Schneider R, Jewett D, Pattavina B, Pratt SL, Morelli KH, Stum MG, Hill DP, Gobet C, Pipis M, Reilly MM, Jennings MJ, Horvath R, Bai Y, Shy ME, Alvarez-Castelao B, Schuman EM, Bogdanik LP, Storkebaum E, Burgess RW. Spaulding EL, et al. Among authors: pipis m. Science. 2021 Sep 3;373(6559):1156-1161. doi: 10.1126/science.abb3414. Epub 2021 Sep 1. Science. 2021. PMID: 34516839 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.
Tremor.
Pipis M, Dehabadi M, Matthews E, Gould L. Pipis M, et al. BMJ. 2013 Dec 12;347:f7200. doi: 10.1136/bmj.f7200. BMJ. 2013. PMID: 24336002 Review. No abstract available.
Unusual upper limb features in SORD neuropathy.
Record CJ, Pipis M, Blake J, Curro R, Lunn MP, Rossor AM, Laura M, Cortese A, Reilly MM. Record CJ, et al. Among authors: pipis m. J Peripher Nerv Syst. 2022 Jun;27(2):175-177. doi: 10.1111/jns.12492. Epub 2022 Apr 13. J Peripher Nerv Syst. 2022. PMID: 35419909 No abstract available.
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: pipis m. 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.
23 results