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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: baas f. J Neuromuscul Dis. 2019;6(2):201-211. doi: 10.3233/JND-190377. J Neuromuscul Dis. 2019. PMID: 30958311 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: baas f. Ann Neurol. 2019 Mar;85(3):316-330. doi: 10.1002/ana.25426. Ann Neurol. 2019. PMID: 30706531 Free PMC article.
Comparison of CMT1A and CMT2: similarities and differences.
Bienfait HM, Verhamme C, van Schaik IN, Koelman JH, de Visser BW, de Haan RJ, Baas F, van Engelen BG, de Visser M. Bienfait HM, et al. Among authors: baas f. J Neurol. 2006 Dec;253(12):1572-80. doi: 10.1007/s00415-006-0260-6. Epub 2006 Aug 28. J Neurol. 2006. PMID: 16941080
The phenotype of the Gly94fsX222 PMP22 insertion.
de Vries SD, Verhamme C, van Ruissen F, van Paassen BW, Arts WF, Kerkhoff H, van Engelen BG, Lammens M, de Visser M, Baas F, van der Kooi AJ. de Vries SD, et al. Among authors: baas f. J Peripher Nerv Syst. 2011 Jun;16(2):113-8. doi: 10.1111/j.1529-8027.2011.00333.x. J Peripher Nerv Syst. 2011. PMID: 21692910
408 results