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ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.
Vilarinho S, Sari S, Mazzacuva F, Bilgüvar K, Esendagli-Yilmaz G, Jain D, Akyol G, Dalgiç B, Günel M, Clayton PT, Lifton RP. Vilarinho S, et al. Among authors: gunel m. Proc Natl Acad Sci U S A. 2016 Oct 4;113(40):11289-11293. doi: 10.1073/pnas.1613228113. Epub 2016 Sep 19. Proc Natl Acad Sci U S A. 2016. PMID: 27647924 Free PMC article.
Counting strokes.
Günel M, Lifton RP. Günel M, et al. Nat Genet. 1996 Aug;13(4):384-5. doi: 10.1038/ng0896-384. Nat Genet. 1996. PMID: 8696326 No abstract available.
Human hypertension caused by mutations in WNK kinases.
Wilson FH, Disse-Nicodème S, Choate KA, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford DV, Lipkin GW, Achard JM, Feely MP, Dussol B, Berland Y, Unwin RJ, Mayan H, Simon DB, Farfel Z, Jeunemaitre X, Lifton RP. Wilson FH, et al. Among authors: gunel m. Science. 2001 Aug 10;293(5532):1107-12. doi: 10.1126/science.1062844. Science. 2001. PMID: 11498583
Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype.
State MW, Greally JM, Cuker A, Bowers PN, Henegariu O, Morgan TM, Gunel M, DiLuna M, King RA, Nelson C, Donovan A, Anderson GM, Leckman JF, Hawkins T, Pauls DL, Lifton RP, Ward DC. State MW, et al. Among authors: gunel m. Proc Natl Acad Sci U S A. 2003 Apr 15;100(8):4684-9. doi: 10.1073/pnas.0730775100. Epub 2003 Apr 7. Proc Natl Acad Sci U S A. 2003. PMID: 12682296 Free PMC article.
Mutational analysis of 206 families with cavernous malformations.
Laurans MS, DiLuna ML, Shin D, Niazi F, Voorhees JR, Nelson-Williams C, Johnson EW, Siegel AM, Steinberg GK, Berg MJ, Scott RM, Tedeschi G, Enevoldson TP, Anson J, Rouleau GA, Ogilvy C, Awad IA, Lifton RP, Gunel M. Laurans MS, et al. Among authors: gunel m. J Neurosurg. 2003 Jul;99(1):38-43. doi: 10.3171/jns.2003.99.1.0038. J Neurosurg. 2003. PMID: 12854741
251 results