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Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.
Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium. Tao F, et al. Among authors: sumner cj. J Neuromuscul Dis. 2019;6(2):201-211. doi: 10.3233/JND-190377. J Neuromuscul Dis. 2019. PMID: 30958311 Free PMC article.
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ. Landouré G, et al. Among authors: sumner cj. Nat Genet. 2010 Feb;42(2):170-4. doi: 10.1038/ng.512. Epub 2009 Dec 27. Nat Genet. 2010. PMID: 20037586 Free PMC article.
Sciatic nerve tumor and tumor-like lesions - uncommon pathologies.
Wadhwa V, Thakkar RS, Maragakis N, Höke A, Sumner CJ, Lloyd TE, Carrino JA, Belzberg AJ, Chhabra A. Wadhwa V, et al. Among authors: sumner cj. Skeletal Radiol. 2012 Jul;41(7):763-74. doi: 10.1007/s00256-012-1384-7. Epub 2012 Mar 13. Skeletal Radiol. 2012. PMID: 22410805 Review.
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.
Sumner CJ, d'Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Züchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, Reilly MM, Greensmith L, Singleton AB, Harms MB, Rossor AM, Houlden H. Sumner CJ, et al. Am J Hum Genet. 2013 Nov 7;93(5):976-83. doi: 10.1016/j.ajhg.2013.10.006. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207122 Free PMC article.
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC). Sanmaneechai O, et al. Among authors: sumner cj. Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25. Brain. 2015. PMID: 26310628 Free PMC article.
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Tao F, Beecham GW, Rebelo AP, Svaren J, Blanton SH, Moran JJ, Lopez-Anido C, Morrow JM, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium. Tao F, et al. Among authors: sumner cj. Ann Neurol. 2019 Mar;85(3):316-330. doi: 10.1002/ana.25426. Ann Neurol. 2019. PMID: 30706531 Free PMC article.
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.
Fridman V, Sillau S, Acsadi G, Bacon C, Dooley K, Burns J, Day J, Feely S, Finkel RS, Grider T, Gutmann L, Herrmann DN, Kirk CA, Knause SA, Laurá M, Lewis RA, Li J, Lloyd TE, Moroni I, Muntoni F, Pagliano E, Pisciotta C, Piscosquito G, Ramchandren S, Saporta M, Sadjadi R, Shy RR, Siskind CE, Sumner CJ, Walk D, Wilcox J, Yum SW, Züchner S, Scherer SS, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN). Fridman V, et al. Among authors: sumner cj. Neurology. 2020 Mar 3;94(9):e884-e896. doi: 10.1212/WNL.0000000000009035. Epub 2020 Feb 11. Neurology. 2020. PMID: 32047073 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.
140 results