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Results by year

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

Year Number of Results
1998 2
2001 2
2002 1
2003 3
2004 1
2006 3
2008 5
2009 2
2010 2
2012 3
2013 1
2014 3
2015 5
2016 5
2017 1
2018 1
2024 0

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PubMed for Bookshelf ID: 1483704

38 results

Results by year

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Page 1
The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria.
König T, Tröder SE, Bakka K, Korwitz A, Richter-Dennerlein R, Lampe PA, Patron M, Mühlmeister M, Guerrero-Castillo S, Brandt U, Decker T, Lauria I, Paggio A, Rizzuto R, Rugarli EI, De Stefani D, Langer T. König T, et al. Mol Cell. 2016 Oct 6;64(1):148-162. doi: 10.1016/j.molcel.2016.08.020. Epub 2016 Sep 15. Mol Cell. 2016. PMID: 27642048 Free article.
Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).
Yahikozawa H, Yoshida K, Sato S, Hanyu N, Doi H, Miyatake S, Matsumoto N. Yahikozawa H, et al. Hum Genome Var. 2015 Mar 26;2:15012. doi: 10.1038/hgv.2015.12. eCollection 2015. Hum Genome Var. 2015. PMID: 27081526 Free PMC article.
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
Choquet K, Tétreault M, Yang S, La Piana R, Dicaire MJ, Vanstone MR, Mathieu J, Bouchard JP, Rioux MF, Rouleau GA; Care4Rare Canada Consortium; Boycott KM, Majewski J, Brais B. Choquet K, et al. Eur J Hum Genet. 2016 Jul;24(7):1016-21. doi: 10.1038/ejhg.2015.240. Epub 2015 Dec 2. Eur J Hum Genet. 2016. PMID: 26626314 Free PMC article.
SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore.
Shanmughapriya S, Rajan S, Hoffman NE, Higgins AM, Tomar D, Nemani N, Hines KJ, Smith DJ, Eguchi A, Vallem S, Shaikh F, Cheung M, Leonard NJ, Stolakis RS, Wolfers MP, Ibetti J, Chuprun JK, Jog NR, Houser SR, Koch WJ, Elrod JW, Madesh M. Shanmughapriya S, et al. Mol Cell. 2015 Oct 1;60(1):47-62. doi: 10.1016/j.molcel.2015.08.009. Epub 2015 Sep 17. Mol Cell. 2015. PMID: 26387735 Free PMC article.
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S. Melo US, et al. Hum Mol Genet. 2015 Dec 15;24(24):6877-85. doi: 10.1093/hmg/ddv388. Epub 2015 Sep 18. Hum Mol Genet. 2015. PMID: 26385635 Free PMC article.
38 results