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Page 1
Danazol Treatment for Telomere Diseases.
Townsley DM, Dumitriu B, Liu D, Biancotto A, Weinstein B, Chen C, Hardy N, Mihalek AD, Lingala S, Kim YJ, Yao J, Jones E, Gochuico BR, Heller T, Wu CO, Calado RT, Scheinberg P, Young NS. Townsley DM, et al. Among authors: gochuico br. N Engl J Med. 2016 May 19;374(20):1922-31. doi: 10.1056/NEJMoa1515319. N Engl J Med. 2016. PMID: 27192671 Free PMC article. Clinical Trial.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis.
O'Brien K, Troendle J, Gochuico BR, Markello TC, Salas J, Cardona H, Yao J, Bernardini I, Hess R, Gahl WA. O'Brien K, et al. Among authors: gochuico br. Mol Genet Metab. 2011 Jun;103(2):128-34. doi: 10.1016/j.ymgme.2011.02.003. Epub 2011 Mar 21. Mol Genet Metab. 2011. PMID: 21420888 Free PMC article. Clinical Trial.
The Immunome in Two Inherited Forms of Pulmonary Fibrosis.
El-Chemaly S, Cheung F, Kotliarov Y, O'Brien KJ, Gahl WA, Chen J, Perl SY, Biancotto A, Gochuico BR. El-Chemaly S, et al. Among authors: gochuico br. Front Immunol. 2018 Jan 31;9:76. doi: 10.3389/fimmu.2018.00076. eCollection 2018. Front Immunol. 2018. PMID: 29445374 Free PMC article.
117 results