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

Year Number of Results
1991 1
1992 2
1993 3
1994 4
1996 2
1998 2
1999 1
2001 3
2002 3
2003 3
2004 3
2005 4
2007 3
2008 2
2009 4
2010 6
2011 5
2012 1
2013 1
2014 2
2015 5
2016 4
2017 3
2018 5
2019 1
2021 2
2022 1
2023 3
2024 0

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PubMed for id: 491

73 results

Results by year

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Page 1
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
Smits JJ, Oostrik J, Beynon AJ, Kant SG, de Koning Gans PAM, Rotteveel LJC, Klein Wassink-Ruiter JS, Free RH, Maas SM, van de Kamp J, Merkus P; DOOFNL Consortium; Koole W, Feenstra I, Admiraal RJC, Lanting CP, Schraders M, Yntema HG, Pennings RJE, Kremer H. Smits JJ, et al. Hum Genet. 2019 Jan;138(1):61-72. doi: 10.1007/s00439-018-1965-1. Epub 2018 Dec 8. Hum Genet. 2019. PMID: 30535804 Free PMC article.
A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia.
Vicario M, Zanni G, Vallese F, Santorelli F, Grinzato A, Cieri D, Berto P, Frizzarin M, Lopreiato R, Zonta F, Ferro S, Sandre M, Marin O, Ruzzene M, Bertini E, Zanotti G, Brini M, Calì T, Carafoli E. Vicario M, et al. Neurobiol Dis. 2018 Jul;115:157-166. doi: 10.1016/j.nbd.2018.04.009. Epub 2018 Apr 12. Neurobiol Dis. 2018. PMID: 29655659
PMCA2 pump mutations and hereditary deafness.
Bortolozzi M, Mammano F. Bortolozzi M, et al. Neurosci Lett. 2018 Jan 10;663:18-24. doi: 10.1016/j.neulet.2017.09.059. Neurosci Lett. 2018. PMID: 29452611 Review.
73 results