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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: saporta ma. J Neuromuscul Dis. 2019;6(2):201-211. doi: 10.3233/JND-190377. J Neuromuscul Dis. 2019. PMID: 30958311 Free PMC article.
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network; Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. Kanca O, et al. Am J Hum Genet. 2019 Sep 5;105(3):672-674. doi: 10.1016/j.ajhg.2019.07.017. Am J Hum Genet. 2019. PMID: 31491411 Free PMC article. No abstract available.
Conduction block in PMP22 deficiency.
Bai Y, Zhang X, Katona I, Saporta MA, Shy ME, O'Malley HA, Isom LL, Suter U, Li J. Bai Y, et al. Among authors: saporta ma. J Neurosci. 2010 Jan 13;30(2):600-8. doi: 10.1523/JNEUROSCI.4264-09.2010. J Neurosci. 2010. PMID: 20071523 Free PMC article.
Neuropathy in a human without the PMP22 gene.
Saporta MA, Katona I, Zhang X, Roper HP, McClelland L, Macdonald F, Brueton L, Blake J, Suter U, Reilly MM, Shy ME, Li J. Saporta MA, et al. Arch Neurol. 2011 Jun;68(6):814-21. doi: 10.1001/archneurol.2011.110. Arch Neurol. 2011. PMID: 21670407 Free PMC article.
Inherited peripheral neuropathies.
Saporta MA, Shy ME. Saporta MA, et al. Neurol Clin. 2013 May;31(2):597-619. doi: 10.1016/j.ncl.2013.01.009. Epub 2013 Mar 5. Neurol Clin. 2013. PMID: 23642725 Free PMC article. Review.
106 results