Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1
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Calcium Dyshomeostasis in Tubular Aggregate MyopathyDiseases caused by mutations in ORAI1 and STIM1Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1.Excitation-Contraction Coupling Alterations in Myopathies.Neurological and Motor Disorders: TRPC in the Skeletal Muscle.ALS-Associated Endoplasmic Reticulum Proteins in Denervated Skeletal Muscle: Implications for Motor Neuron Disease Pathology.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
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P2860
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1
description
2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2014
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im Dezember 2014 veröffentlicher wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 2014/12/01)
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vědecký článek publikovaný v roce 2014
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wetenschappelijk artikel (gepubliceerd op 2014/12/01)
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наукова стаття, опублікована в грудні 2014
@uk
مقالة علمية (نشرت في ديسمبر 2014)
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name
Clinical, histological and gen ...... y caused by mutations in STIM1
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Clinical, histological and gen ...... y caused by mutations in STIM1
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Clinical, histological and gen ...... y caused by mutations in STIM1
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type
label
Clinical, histological and gen ...... y caused by mutations in STIM1
@ast
Clinical, histological and gen ...... y caused by mutations in STIM1
@en
Clinical, histological and gen ...... y caused by mutations in STIM1
@nl
prefLabel
Clinical, histological and gen ...... y caused by mutations in STIM1
@ast
Clinical, histological and gen ...... y caused by mutations in STIM1
@en
Clinical, histological and gen ...... y caused by mutations in STIM1
@nl
P2093
P2860
P50
P1476
Clinical, histological and gen ...... y caused by mutations in STIM1
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P2093
Aleksandra Nadaj-Pakleza
Barbara Pasanisi
Bruno Eymard
Catherine Koch
Enzo Ricci
Frédéric Chevessier
G. Arielle Peche
Isabelle Pénisson-Besnier
Johann Böhm
Lucia Morandi
P2860
P304
P356
10.1136/JMEDGENET-2014-102623
P407
P577
2014-12-01T00:00:00Z