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Cochlear implants for DFNA17 deafness.
Hildebrand MS, de Silva MG, Gardner RJ, Rose E, de Graaf CA, Bahlo M, Dahl HH. Hildebrand MS, et al. Among authors: bahlo m. Laryngoscope. 2006 Dec;116(12):2211-5. doi: 10.1097/01.mlg.0000242089.72880.f8. Laryngoscope. 2006. PMID: 17146397
A novel splice site mutation in EYA4 causes DFNA10 hearing loss.
Hildebrand MS, Coman D, Yang T, Gardner RJ, Rose E, Smith RJ, Bahlo M, Dahl HH. Hildebrand MS, et al. Among authors: bahlo m. Am J Med Genet A. 2007 Jul 15;143A(14):1599-604. doi: 10.1002/ajmg.a.31860. Am J Med Genet A. 2007. PMID: 17568404
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, Lüllmann-Rauch R, Blanz J, Zhang KW, Stankovich J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D'Hooge R, Vadlamudi L, Macdonell RA, Hodgson BL, Bayly MA, Savige J, Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M. Berkovic SF, et al. Among authors: bahlo m. Am J Hum Genet. 2008 Mar;82(3):673-84. doi: 10.1016/j.ajhg.2007.12.019. Epub 2008 Feb 28. Am J Hum Genet. 2008. PMID: 18308289 Free PMC article.
A Cav3.2 T-type calcium channel point mutation has splice-variant-specific effects on function and segregates with seizure expression in a polygenic rat model of absence epilepsy.
Powell KL, Cain SM, Ng C, Sirdesai S, David LS, Kyi M, Garcia E, Tyson JR, Reid CA, Bahlo M, Foote SJ, Snutch TP, O'Brien TJ. Powell KL, et al. Among authors: bahlo m. J Neurosci. 2009 Jan 14;29(2):371-80. doi: 10.1523/JNEUROSCI.5295-08.2009. J Neurosci. 2009. PMID: 19144837 Free PMC article.
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF. Arsov T, et al. Among authors: bahlo m. Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549341 Free PMC article.
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.
Smith KR, Damiano J, Franceschetti S, Carpenter S, Canafoglia L, Morbin M, Rossi G, Pareyson D, Mole SE, Staropoli JF, Sims KB, Lewis J, Lin WL, Dickson DW, Dahl HH, Bahlo M, Berkovic SF. Smith KR, et al. Among authors: bahlo m. Am J Hum Genet. 2012 Jun 8;90(6):1102-7. doi: 10.1016/j.ajhg.2012.04.021. Epub 2012 May 17. Am J Hum Genet. 2012. PMID: 22608501 Free PMC article.
313 results