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323 results

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Page 1
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
Khan SG, Oh KS, Emmert S, Imoto K, Tamura D, Digiovanna JJ, Shahlavi T, Armstrong N, Baker CC, Neuburg M, Zalewski C, Brewer C, Wiggs E, Schiffmann R, Kraemer KH. Khan SG, et al. Among authors: schiffmann r. DNA Repair (Amst). 2009 Jan 1;8(1):114-25. doi: 10.1016/j.dnarep.2008.09.007. Epub 2008 Nov 14. DNA Repair (Amst). 2009. PMID: 18955168 Free PMC article.
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.
Totonchy MB, Tamura D, Pantell MS, Zalewski C, Bradford PT, Merchant SN, Nadol J, Khan SG, Schiffmann R, Pierson TM, Wiggs E, Griffith AJ, DiGiovanna JJ, Kraemer KH, Brewer CC. Totonchy MB, et al. Among authors: schiffmann r. Brain. 2013 Jan;136(Pt 1):194-208. doi: 10.1093/brain/aws317. Brain. 2013. PMID: 23365097 Free PMC article.
Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.
Christen-Zaech S, Imoto K, Khan SG, Oh KS, Tamura D, Digiovanna JJ, Boyle J, Patronas NJ, Schiffmann R, Kraemer KH, Paller AS. Christen-Zaech S, et al. Among authors: schiffmann r. Arch Dermatol. 2009 Nov;145(11):1285-91. doi: 10.1001/archdermatol.2009.279. Arch Dermatol. 2009. PMID: 19917958 Free PMC article.
The saccadic and neurological deficits in type 3 Gaucher disease.
Benko W, Ries M, Wiggs EA, Brady RO, Schiffmann R, Fitzgibbon EJ. Benko W, et al. Among authors: schiffmann r. PLoS One. 2011;6(7):e22410. doi: 10.1371/journal.pone.0022410. Epub 2011 Jul 20. PLoS One. 2011. PMID: 21799847 Free PMC article. Clinical Trial.
Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease.
Ries M, Kim HJ, Zalewski CK, Mastroianni MA, Moore DF, Brady RO, Dambrosia JM, Schiffmann R, Brewer CC. Ries M, et al. Among authors: schiffmann r. Brain. 2007 Jan;130(Pt 1):143-50. doi: 10.1093/brain/awl310. Epub 2006 Nov 14. Brain. 2007. PMID: 17105746 Free PMC article.
323 results