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Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA. Jinks RN, et al. Among authors: puffenberger eg. Brain. 2015 Aug;138(Pt 8):2173-90. doi: 10.1093/brain/awv153. Epub 2015 Jun 11. Brain. 2015. PMID: 26070982 Free PMC article.
Type I glutaric aciduria, part 1: natural history of 77 patients.
Strauss KA, Puffenberger EG, Robinson DL, Morton DH. Strauss KA, et al. Among authors: puffenberger eg. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):38-52. doi: 10.1002/ajmg.c.20007. Am J Med Genet C Semin Med Genet. 2003. PMID: 12888985
Genetics, medicine, and the Plain people.
Strauss KA, Puffenberger EG. Strauss KA, et al. Among authors: puffenberger eg. Annu Rev Genomics Hum Genet. 2009;10:513-36. doi: 10.1146/annurev-genom-082908-150040. Annu Rev Genomics Hum Genet. 2009. PMID: 19630565 Review.
CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
Strauss KA, Jinks RN, Puffenberger EG, Venkatesh S, Singh K, Cheng I, Mikita N, Thilagavathi J, Lee J, Sarafianos S, Benkert A, Koehler A, Zhu A, Trovillion V, McGlincy M, Morlet T, Deardorff M, Innes AM, Prasad C, Chudley AE, Lee IN, Suzuki CK. Strauss KA, et al. Among authors: puffenberger eg. Am J Hum Genet. 2015 Jan 8;96(1):121-35. doi: 10.1016/j.ajhg.2014.12.003. Am J Hum Genet. 2015. PMID: 25574826 Free PMC article.
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
Bowser LE, Young M, Wenger OK, Ammous Z, Brigatti KW, Carson VJ, Moser T, Deline J, Aoki K, Morlet T, Scott EM, Puffenberger EG, Robinson DL, Hendrickson C, Salvin J, Gottlieb S, Heaps AD, Tiemeyer M, Strauss KA. Bowser LE, et al. Among authors: puffenberger eg. Mol Genet Metab. 2019 Apr;126(4):475-488. doi: 10.1016/j.ymgme.2019.01.013. Epub 2019 Jan 21. Mol Genet Metab. 2019. PMID: 30691927
90 results