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Year | Number of Results |
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2014 | 2 |
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PubMed (cited) for id: 615883
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A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis.
Clin Genet. 2017 May;91(5):780-786. doi: 10.1111/cge.12888. Epub 2016 Nov 23.
Clin Genet. 2017.
PMID: 27882542
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels.
Endo Y, Noguchi S, Hara Y, Hayashi YK, Motomura K, Miyatake S, Murakami N, Tanaka S, Yamashita S, Kizu R, Bamba M, Goto Y, Matsumoto N, Nonaka I, Nishino I.
Endo Y, et al.
Hum Mol Genet. 2015 Feb 1;24(3):637-48. doi: 10.1093/hmg/ddu477. Epub 2014 Sep 16.
Hum Mol Genet. 2015.
PMID: 25227914
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Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
Nesin V, Wiley G, Kousi M, Ong EC, Lehmann T, Nicholl DJ, Suri M, Shahrizaila N, Katsanis N, Gaffney PM, Wierenga KJ, Tsiokas L.
Nesin V, et al.
Proc Natl Acad Sci U S A. 2014 Mar 18;111(11):4197-202. doi: 10.1073/pnas.1312520111. Epub 2014 Mar 3.
Proc Natl Acad Sci U S A. 2014.
PMID: 24591628
Free PMC article.
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Familial myopathy with tubular aggregates associated with abnormal pupils.
Shahrizaila N, Lowe J, Wills A.
Shahrizaila N, et al.
Neurology. 2004 Sep 28;63(6):1111-3. doi: 10.1212/01.wnl.0000138575.14424.5f.
Neurology. 2004.
PMID: 15452313
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