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

Year Number of Results
1995 1
1997 3
1999 1
2000 1
2001 3
2002 3
2003 3
2004 3
2005 8
2006 10
2007 7
2008 2
2009 6
2010 2
2011 6
2012 9
2013 10
2014 6
2015 8
2016 2
2017 3
2018 2
2019 6
2020 3
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95 results
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Page 1
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP. Kim HJ, et al. Among authors: kimonis ve. Nature. 2013 Mar 28;495(7442):467-73. doi: 10.1038/nature11922. Epub 2013 Mar 3. Nature. 2013. PMID: 23455423 Free PMC article.
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites. Reuser AJJ, et al. Among authors: kimonis ve. Hum Mutat. 2019 Nov;40(11):2146-2164. doi: 10.1002/humu.23878. Epub 2019 Aug 7. Hum Mutat. 2019. PMID: 31342611 Free PMC article.
Contributing factors of mortality in Prader-Willi syndrome.
Proffitt J, Osann K, McManus B, Kimonis VE, Heinemann J, Butler MG, Stevenson DA, Gold JA. Proffitt J, et al. Among authors: kimonis ve. Am J Med Genet A. 2019 Feb;179(2):196-205. doi: 10.1002/ajmg.a.60688. Epub 2018 Dec 19. Am J Med Genet A. 2019. PMID: 30569567 Free PMC article.
Early Diagnosis in Prader-Willi Syndrome Reduces Obesity and Associated Co-Morbidities.
Kimonis VE, Tamura R, Gold JA, Patel N, Surampalli A, Manazir J, Miller JL, Roof E, Dykens E, Butler MG, Driscoll DJ. Kimonis VE, et al. Genes (Basel). 2019 Nov 6;10(11):898. doi: 10.3390/genes10110898. Genes (Basel). 2019. PMID: 31698873 Free PMC article.
Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.
El-Hattab AW, Schaaf CP, Fang P, Roeder E, Kimonis VE, Church JA, Patel A, Cheung SW. El-Hattab AW, et al. Among authors: kimonis ve. BMC Med Genet. 2015 Mar 14;16:12. doi: 10.1186/s12881-015-0157-2. BMC Med Genet. 2015. PMID: 25927380 Free PMC article.
Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome.
Oldzej J, Manazir J, Gold JA, Mahmoud R, Osann K, Flodman P, Cassidy SB, Kimonis VE. Oldzej J, et al. Among authors: kimonis ve. Am J Med Genet A. 2020 Jan;182(1):169-175. doi: 10.1002/ajmg.a.61408. Epub 2019 Nov 29. Am J Med Genet A. 2020. PMID: 31782896
Impact of genetic subtypes of Prader-Willi syndrome with growth hormone therapy on intelligence and body mass index.
Butler MG, Matthews NA, Patel N, Surampalli A, Gold JA, Khare M, Thompson T, Cassidy SB, Kimonis VE. Butler MG, et al. Among authors: kimonis ve. Am J Med Genet A. 2019 Sep;179(9):1826-1835. doi: 10.1002/ajmg.a.61293. Epub 2019 Jul 16. Am J Med Genet A. 2019. PMID: 31313492
Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica.
Maclean AE, Kimonis VE, Balk J. Maclean AE, et al. Among authors: kimonis ve. Hum Mol Genet. 2018 Nov 1;27(21):3697-3709. doi: 10.1093/hmg/ddy247. Hum Mol Genet. 2018. PMID: 29982452 Free PMC article.
A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.
Fanganiello RD, Kimonis VE, CĂ´rte CC, Nitrini R, Passos-Bueno MR. Fanganiello RD, et al. Among authors: kimonis ve. Braz J Med Biol Res. 2011 Apr;44(4):374-80. doi: 10.1590/s0100-879x2011007500028. Epub 2011 Mar 11. Braz J Med Biol Res. 2011. PMID: 21412659 Free article. Review.
Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia.
Weihl CC, Pestronk A, Kimonis VE. Weihl CC, et al. Among authors: kimonis ve. Neuromuscul Disord. 2009 May;19(5):308-15. doi: 10.1016/j.nmd.2009.01.009. Epub 2009 Apr 19. Neuromuscul Disord. 2009. PMID: 19380227 Free PMC article. Review.
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