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Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2013 | 3 |
2014 | 1 |
2015 | 3 |
2024 | 0 |
Search Results
7 results
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Page 1
LRRK2: cause, risk, and mechanism.
J Parkinsons Dis. 2013;3(2):85-103. doi: 10.3233/JPD-130192.
J Parkinsons Dis. 2013.
PMID: 23938341
Free PMC article.
Review.
GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment.
Ruiz-Martinez J, Krebs CE, Makarov V, Gorostidi A, Martí-Massó JF, Paisán-Ruiz C.
Ruiz-Martinez J, et al.
J Hum Genet. 2015 Oct;60(10):637-40. doi: 10.1038/jhg.2015.69. Epub 2015 Jul 2.
J Hum Genet. 2015.
PMID: 26134514
Free PMC article.
Item in Clipboard
SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor.
Sánchez E, Bergareche A, Krebs CE, Gorostidi A, Makarov V, Ruiz-Martinez J, Chorny A, Lopez de Munain A, Marti-Masso JF, Paisán-Ruiz C.
Sánchez E, et al.
ASN Neuro. 2015 Aug 21;7(4):1759091415598290. doi: 10.1177/1759091415598290. Print 2015 Jul-Aug.
ASN Neuro. 2015.
PMID: 26297037
Free PMC article.
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Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.
Deik A, Johannes B, Rucker JC, Sánchez E, Brodie SE, Deegan E, Landy K, Kajiwara Y, Scelsa S, Saunders-Pullman R, Paisán-Ruiz C.
Deik A, et al.
J Neurol. 2014 Dec;261(12):2411-23. doi: 10.1007/s00415-014-7516-3. Epub 2014 Sep 30.
J Neurol. 2014.
PMID: 25267340
Free PMC article.
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Mutations in γ adducin are associated with inherited cerebral palsy.
Kruer MC, Jepperson T, Dutta S, Steiner RD, Cottenie E, Sanford L, Merkens M, Russman BS, Blasco PA, Fan G, Pollock J, Green S, Woltjer RL, Mooney C, Kretzschmar D, Paisán-Ruiz C, Houlden H.
Kruer MC, et al.
Ann Neurol. 2013 Dec;74(6):805-14. doi: 10.1002/ana.23971.
Ann Neurol. 2013.
PMID: 23836506
Free PMC article.
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SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.
Bergareche A, Bednarz M, Sánchez E, Krebs CE, Ruiz-Martinez J, De La Riva P, Makarov V, Gorostidi A, Jurkat-Rott K, Marti-Masso JF, Paisán-Ruiz C.
Bergareche A, et al.
Hum Mol Genet. 2015 Dec 15;24(24):7111-20. doi: 10.1093/hmg/ddv410. Epub 2015 Oct 1.
Hum Mol Genet. 2015.
PMID: 26427606
Free PMC article.
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The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.
Krebs CE, Karkheiran S, Powell JC, Cao M, Makarov V, Darvish H, Di Paolo G, Walker RH, Shahidi GA, Buxbaum JD, De Camilli P, Yue Z, Paisán-Ruiz C.
Krebs CE, et al.
Hum Mutat. 2013 Sep;34(9):1200-7. doi: 10.1002/humu.22372. Epub 2013 Jul 19.
Hum Mutat. 2013.
PMID: 23804563
Free PMC article.
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