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Severe neuropathy with leaky connexin32 hemichannels.
Liang GS, de Miguel M, Gómez-Hernández JM, Glass JD, Scherer SS, Mintz M, Barrio LC, Fischbeck KH. Liang GS, et al. Among authors: scherer ss. Ann Neurol. 2005 May;57(5):749-54. doi: 10.1002/ana.20459. Ann Neurol. 2005. PMID: 15852376
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
Orthmann-Murphy JL, Salsano E, Abrams CK, Bizzi A, Uziel G, Freidin MM, Lamantea E, Zeviani M, Scherer SS, Pareyson D. Orthmann-Murphy JL, et al. Among authors: scherer ss. Brain. 2009 Feb;132(Pt 2):426-38. doi: 10.1093/brain/awn328. Epub 2008 Dec 4. Brain. 2009. PMID: 19056803 Free PMC article.
X-linked Charcot-Marie-Tooth disease.
Scherer SS, Kleopa KA. Scherer SS, et al. J Peripher Nerv Syst. 2012 Dec;17 Suppl 3(0 3):9-13. doi: 10.1111/j.1529-8027.2012.00424.x. J Peripher Nerv Syst. 2012. PMID: 23279425 Free PMC article. Review.
A new mutation in GJC2 associated with subclinical leukodystrophy.
Abrams CK, Scherer SS, Flores-Obando R, Freidin MM, Wong S, Lamantea E, Farina L, Scaioli V, Pareyson D, Salsano E. Abrams CK, et al. Among authors: scherer ss. J Neurol. 2014 Oct;261(10):1929-38. doi: 10.1007/s00415-014-7429-1. Epub 2014 Jul 25. J Neurol. 2014. PMID: 25059390 Free PMC article.
250 results