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8,142 results

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Page 1
Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.
Pisciotta C, Bai Y, Brennan KM, Wu X, Grider T, Feely S, Wang S, Moore S, Siskind C, Gonzalez M, Zuchner S, Shy ME. Pisciotta C, et al. Among authors: gonzalez m. Neurology. 2015 Jul 21;85(3):228-34. doi: 10.1212/WNL.0000000000001773. Epub 2015 Jun 24. Neurology. 2015. PMID: 26109717 Free PMC article.
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
Gonzalez MA, Feely SM, Speziani F, Strickland AV, Danzi M, Bacon C, Lee Y, Chou TF, Blanton SH, Weihl CC, Zuchner S, Shy ME. Gonzalez MA, et al. Brain. 2014 Nov;137(Pt 11):2897-902. doi: 10.1093/brain/awu224. Epub 2014 Aug 14. Brain. 2014. PMID: 25125609 Free PMC article.
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. Among authors: gonzalez ma. 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.
Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.
Gonzalez M, McLaughlin H, Houlden H, Guo M, Yo-Tsen L, Hadjivassilious M, Speziani F, Yang XL, Antonellis A, Reilly MM, Züchner S; Inherited Neuropathy Consortium. Gonzalez M, et al. J Neurol Neurosurg Psychiatry. 2013 Nov;84(11):1247-9. doi: 10.1136/jnnp-2013-305049. Epub 2013 Jun 1. J Neurol Neurosurg Psychiatry. 2013. PMID: 23729695 Free PMC article.
Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.
Jerath NU, Crockett CD, Moore SA, Shy ME, Weihl CC, Chou TF, Grider T, Gonzalez MA, Zuchner S, Swenson A. Jerath NU, et al. Case Rep Genet. 2015;2015:239167. doi: 10.1155/2015/239167. Epub 2015 Mar 23. Case Rep Genet. 2015. PMID: 25878907 Free PMC article.
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
Motley WW, Palaima P, Yum SW, Gonzalez MA, Tao F, Wanschitz JV, Strickland AV, Löscher WN, De Vriendt E, Koppi S, Medne L, Janecke AR, Jordanova A, Zuchner S, Scherer SS. Motley WW, et al. Brain. 2016 Jun;139(Pt 6):1649-56. doi: 10.1093/brain/aww055. Epub 2016 Mar 23. Brain. 2016. PMID: 27009151 Free PMC article.
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Horga A, Laurà M, Jaunmuktane Z, Jerath NU, Gonzalez MA, Polke JM, Poh R, Blake JC, Liu YT, Wiethoff S, Bettencourt C, Lunn MP, Manji H, Hanna MG, Houlden H, Brandner S, Züchner S, Shy M, Reilly MM. Horga A, et al. Among authors: gonzalez ma. J Neurol Neurosurg Psychiatry. 2017 Jul;88(7):575-585. doi: 10.1136/jnnp-2016-315077. Epub 2017 May 13. J Neurol Neurosurg Psychiatry. 2017. PMID: 28501821 Free PMC article.
Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.
Tétreault M, Gonzalez M, Dicaire MJ, Allard P, Gehring K, Leblanc D, Leclerc N, Schondorf R, Mathieu J, Zuchner S, Brais B. Tétreault M, et al. Among authors: gonzalez m. Brain. 2015 Jun;138(Pt 6):1477-83. doi: 10.1093/brain/awv074. Epub 2015 Mar 28. Brain. 2015. PMID: 25818867 Free PMC article.
8,142 results