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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2010 | 2 |
2011 | 3 |
2012 | 1 |
2024 | 0 |
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5 results
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Page 1
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Nat Genet. 2012 Jan 15;44(2):193-9. doi: 10.1038/ng.1078.
Nat Genet. 2012.
PMID: 22246503
Free PMC article.
Subcellular spatial regulation of canonical Wnt signalling at the primary cilium.
Lancaster MA, Schroth J, Gleeson JG.
Lancaster MA, et al.
Nat Cell Biol. 2011 Jun;13(6):700-7. doi: 10.1038/ncb2259. Epub 2011 May 22.
Nat Cell Biol. 2011.
PMID: 21602792
Free PMC article.
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Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.
Lancaster MA, Gopal DJ, Kim J, Saleem SN, Silhavy JL, Louie CM, Thacker BE, Williams Y, Zaki MS, Gleeson JG.
Lancaster MA, et al.
Nat Med. 2011 Jun;17(6):726-31. doi: 10.1038/nm.2380. Epub 2011 May 29.
Nat Med. 2011.
PMID: 21623382
Free PMC article.
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SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG.
Cantagrel V, et al.
Cell. 2010 Jul 23;142(2):203-17. doi: 10.1016/j.cell.2010.06.001. Epub 2010 Jul 15.
Cell. 2010.
PMID: 20637498
Free PMC article.
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Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.
Abdel Aleem A, Abu-Shahba N, Swistun D, Silhavy J, Bielas SL, Sattar S, Gleeson JG, Zaki MS.
Abdel Aleem A, et al.
Eur J Med Genet. 2011 Jan-Feb;54(1):82-5. doi: 10.1016/j.ejmg.2010.10.006. Epub 2010 Nov 12.
Eur J Med Genet. 2011.
PMID: 20971220
Free PMC article.
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