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NT5E mutations and arterial calcifications.
St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M. St Hilaire C, et al. Among authors: nussbaum rl. N Engl J Med. 2011 Feb 3;364(5):432-42. doi: 10.1056/NEJMoa0912923. N Engl J Med. 2011. PMID: 21288095 Free PMC article.
Reply to Professor Lefthériotis et al.
Markello TC, St Hilaire C, Ziegler SG, Nussbaum RL, Boehm M, Gahl WA. Markello TC, et al. Among authors: nussbaum rl. Mol Genet Metab. 2011 Jul;103(3):305. doi: 10.1016/j.ymgme.2011.04.008. Epub 2011 Apr 22. Mol Genet Metab. 2011. PMID: 21592834 No abstract available.
Alzheimer's disease and Parkinson's disease.
Nussbaum RL, Ellis CE. Nussbaum RL, et al. N Engl J Med. 2003 Apr 3;348(14):1356-64. doi: 10.1056/NEJM2003ra020003. N Engl J Med. 2003. PMID: 12672864 Free article. Review. No abstract available.
ClinGen--the Clinical Genome Resource.
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. Rehm HL, et al. Among authors: nussbaum rl. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27. N Engl J Med. 2015. PMID: 26014595 Free PMC article.
Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy.
Bothwell SP, Chan E, Bernardini IM, Kuo YM, Gahl WA, Nussbaum RL. Bothwell SP, et al. Among authors: nussbaum rl. J Am Soc Nephrol. 2011 Mar;22(3):443-8. doi: 10.1681/ASN.2010050565. Epub 2010 Dec 23. J Am Soc Nephrol. 2011. PMID: 21183592 Free PMC article.
alpha-Synuclein locus triplication causes Parkinson's disease.
Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, Gwinn-Hardy K. Singleton AB, et al. Science. 2003 Oct 31;302(5646):841. doi: 10.1126/science.1090278. Science. 2003. PMID: 14593171 No abstract available.
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.
Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL. Polymeropoulos MH, et al. Among authors: nussbaum rl. Science. 1997 Jun 27;276(5321):2045-7. doi: 10.1126/science.276.5321.2045. Science. 1997. PMID: 9197268
310 results