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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
2003 1
2005 1
2007 1
2008 2
2010 5
2011 3
2012 4
2013 2
2014 1
2015 2
2016 3
2017 2
2019 1
2023 0

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PubMed (Bookshelf cited) for id: 1648343

22 results

Results by year

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Page 1
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).
Gregory A, Lotia M, Jeong SY, Fox R, Zhen D, Sanford L, Hamada J, Jahic A, Beetz C, Freed A, Kurian MA, Cullup T, van der Weijden MCM, Nguyen V, Setthavongsack N, Garcia D, Krajbich V, Pham T, Woltjer R, George BP, Minks KQ, Paciorkowski AR, Hogarth P, Jankovic J, Hayflick SJ. Gregory A, et al. Mol Genet Genomic Med. 2019 Jul;7(7):e00736. doi: 10.1002/mgg3.736. Epub 2019 May 13. Mol Genet Genomic Med. 2019. PMID: 31087512 Free PMC article.
Timing, rates and spectra of human germline mutation.
Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR; UK10K Consortium; Hurles ME. Rahbari R, et al. Nat Genet. 2016 Feb;48(2):126-133. doi: 10.1038/ng.3469. Epub 2015 Dec 14. Nat Genet. 2016. PMID: 26656846 Free PMC article.
Lessons from a pair of siblings with BPAN.
Zarate YA, Jones JR, Jones MA, Millan F, Juusola J, Vertino-Bell A, Schaefer GB, Kruer MC. Zarate YA, et al. Eur J Hum Genet. 2016 Jul;24(7):1080-3. doi: 10.1038/ejhg.2015.242. Epub 2015 Nov 18. Eur J Hum Genet. 2016. PMID: 26577041 Free PMC article.
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Goffrini P, Tigano M, Demchenko N, Wieland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V. Dusi S, et al. Am J Hum Genet. 2014 Jan 2;94(1):11-22. doi: 10.1016/j.ajhg.2013.11.008. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360804 Free PMC article.
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, Egel RT, Subramony SH, Goldman JG, Berry-Kravis E, Foulds NC, Hammans SR, Desguerre I, Rodriguez D, Wilson C, Diedrich A, Green S, Tran H, Reese L, Woltjer RL, Hayflick SJ. Hogarth P, et al. Neurology. 2013 Jan 15;80(3):268-75. doi: 10.1212/WNL.0b013e31827e07be. Epub 2012 Dec 26. Neurology. 2013. PMID: 23269600 Free PMC article.
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ. Haack TB, et al. Am J Hum Genet. 2012 Dec 7;91(6):1144-9. doi: 10.1016/j.ajhg.2012.10.019. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176820 Free PMC article.
Neuroimaging features of neurodegeneration with brain iron accumulation.
Kruer MC, Boddaert N, Schneider SA, Houlden H, Bhatia KP, Gregory A, Anderson JC, Rooney WD, Hogarth P, Hayflick SJ. Kruer MC, et al. AJNR Am J Neuroradiol. 2012 Mar;33(3):407-14. doi: 10.3174/ajnr.A2677. Epub 2011 Sep 15. AJNR Am J Neuroradiol. 2012. PMID: 21920862 Free PMC article. Review.
22 results