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Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
Strickland AV, Schabhüttl M, Offenbacher H, Synofzik M, Hauser NS, Brunner-Krainz M, Gruber-Sedlmayr U, Moore SA, Windhager R, Bender B, Harms M, Klebe S, Young P, Kennerson M, Garcia AS, Gonzalez MA, Züchner S, Schule R, Shy ME, Auer-Grumbach M. Strickland AV, et al. J Neurol. 2015 Sep;262(9):2124-34. doi: 10.1007/s00415-015-7727-2. Epub 2015 Jun 24. J Neurol. 2015. PMID: 26100331 Free PMC article.
Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy.
Beutler AS, Kulkarni AA, Kanwar R, Klein CJ, Therneau TM, Qin R, Banck MS, Boora GK, Ruddy KJ, Wu Y, Smalley RL, Cunningham JM, Le-Lindqwister NA, Beyerlein P, Schroth GP, Windebank AJ, Züchner S, Loprinzi CL. Beutler AS, et al. Ann Neurol. 2014 Nov;76(5):727-37. doi: 10.1002/ana.24265. Epub 2014 Sep 17. Ann Neurol. 2014. PMID: 25164601 Free PMC article.