Scherer SS - Search Results

1

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: scherer ss. Ann Neurol. 2019 Mar;85(3):316-330. doi: 10.1002/ana.25426. Ann Neurol. 2019. PMID: 30706531 Free PMC article.

2

Cellular mechanisms of connexin32 mutations associated with CNS manifestations.

Kleopa KA, Yum SW, Scherer SS. Kleopa KA, et al. Among authors: scherer ss. J Neurosci Res. 2002 Jun 1;68(5):522-34. doi: 10.1002/jnr.10255. J Neurosci Res. 2002. PMID: 12111842

3

The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.

Taylor RA, Simon EM, Marks HG, Scherer SS. Taylor RA, et al. Among authors: scherer ss. Neurology. 2003 Dec 9;61(11):1475-8. doi: 10.1212/01.wnl.0000095960.48964.25. Neurology. 2003. PMID: 14663027 No abstract available.

4

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.

5

A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B.

Lancaster E, Elman LB, Scherer SS. Lancaster E, et al. Among authors: scherer ss. Muscle Nerve. 2010 Apr;41(4):555-8. doi: 10.1002/mus.21546. Muscle Nerve. 2010. PMID: 19918771 Free PMC article.

6

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

Yum SW, Zhang J, Mo K, Li J, Scherer SS. Yum SW, et al. Among authors: scherer ss. Ann Neurol. 2009 Dec;66(6):759-70. doi: 10.1002/ana.21728. Ann Neurol. 2009. PMID: 20039262 Free PMC article.

7

Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.

Yum SW, Zhang J, Scherer SS. Yum SW, et al. Among authors: scherer ss. Neurobiol Dis. 2010 May;38(2):226-36. doi: 10.1016/j.nbd.2010.01.010. Epub 2010 Jan 21. Neurobiol Dis. 2010. PMID: 20096356 Free PMC article.

8

Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy.

Vavlitou N, Sargiannidou I, Markoullis K, Kyriacou K, Scherer SS, Kleopa KA. Vavlitou N, et al. Among authors: scherer ss. J Neuropathol Exp Neurol. 2010 Sep;69(9):945-58. doi: 10.1097/NEN.0b013e3181efa658. J Neuropathol Exp Neurol. 2010. PMID: 20720503 Free PMC article.

9

Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26.

Zhang J, Scherer SS, Yum SW. Zhang J, et al. Among authors: scherer ss. Mol Cell Neurosci. 2011 Jun;47(2):71-8. doi: 10.1016/j.mcn.2010.10.002. Epub 2010 Oct 30. Mol Cell Neurosci. 2011. PMID: 21040787 Free PMC article.

10

Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia.

Lancaster E, Huijbers MG, Bar V, Boronat A, Wong A, Martinez-Hernandez E, Wilson C, Jacobs D, Lai M, Walker RW, Graus F, Bataller L, Illa I, Markx S, Strauss KA, Peles E, Scherer SS, Dalmau J. Lancaster E, et al. Among authors: scherer ss. Ann Neurol. 2011 Feb;69(2):303-11. doi: 10.1002/ana.22297. Ann Neurol. 2011. PMID: 21387375 Free PMC article.

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