50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation.
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Calcium Dyshomeostasis in Tubular Aggregate MyopathyDiseases caused by mutations in ORAI1 and STIM1ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.Stormorken Syndrome Caused by a p.R304W Mutation: The First Italian Patient and a Review of the LiteratureWith the greatest care, stromal interaction molecule (STIM) proteins verify what skeletal muscle is doing
P2860
50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation.
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2015 nî lūn-bûn
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2015 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2015 թվականի ապրիլին հրատարակված գիտական հոդված
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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name
50 years to diagnosis: Autosom ...... sed by a novel STIM1 mutation.
@ast
50 years to diagnosis: Autosom ...... sed by a novel STIM1 mutation.
@en
type
label
50 years to diagnosis: Autosom ...... sed by a novel STIM1 mutation.
@ast
50 years to diagnosis: Autosom ...... sed by a novel STIM1 mutation.
@en
prefLabel
50 years to diagnosis: Autosom ...... sed by a novel STIM1 mutation.
@ast
50 years to diagnosis: Autosom ...... sed by a novel STIM1 mutation.
@en
P2093
P1476
50 years to diagnosis: Autosom ...... sed by a novel STIM1 mutation.
@en
P2093
Birgit Ertl-Wagner
Heinrich Brinkmeier
Maggie C Walter
Manuela Zitzelsberger
Martina Rossius
Matthias Vorgerd
Wolfgang Müller-Felber
Yaxin Zhang
P304
P356
10.1016/J.NMD.2015.04.005
P577
2015-04-16T00:00:00Z