The blurred scenario of the new Calcium-related myopathies: clinical, radiological and molecular characterization of CASQ1, STIM1 and ORAI1 myopathies diagnosed in Padova neuromuscular center

Semplicini C.; Bertolin C.; Pantic B.; Bello L.; Vianello S.; Catapano F.; Colombo I.; Moggio M.; Soraru G.; Cenacchi G.; Calore C.; Stramare R.; Pegoraro E.

首页> 外文期刊>Neuromuscular disorders: NMD >The blurred scenario of the new Calcium-related myopathies: clinical, radiological and molecular characterization of CASQ1, STIM1 and ORAI1 myopathies diagnosed in Padova neuromuscular center

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The blurred scenario of the new Calcium-related myopathies: clinical, radiological and molecular characterization of CASQ1, STIM1 and ORAI1 myopathies diagnosed in Padova neuromuscular center

机译：新的钙相关肌病的模糊情景：Casq1，Stim1和OraI1诊断的CasQ1，Stim1和Orai1肌病的临床，放射和分子表征

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来源
《Neuromuscular disorders: NMD》 |2017年第2期|共1页
作者
Semplicini C.; Bertolin C.; Pantic B.; Bello L.; Vianello S.; Catapano F.; Colombo I.; Moggio M.; Soraru G.; Cenacchi G.; Calore C.; Stramare R.; Pegoraro E.;
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作者单位

Univ Padua Padua Italy;

Univ Padua Padua Italy;

Univ Padua Padua Italy;

Univ Padua Padua Italy;

Univ Padua Padua Italy;

Univ Padua Padua Italy;

Univ Milan Milan Italy;

Univ Milan Milan Italy;

Univ Padua Padua Italy;

Alma Mater Studiorum Univ Bologna Bologna Italy;

Univ Padua Padua Italy;

Univ Padua Padua Italy;

Univ Padua Padua Italy;

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原文格式 PDF
正文语种 eng
中图分类神经病学;
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1. The blurred scenario of the new Calcium-related myopathies: clinical, radiological and molecular characterization of CASQ1, STIM1 and ORAI1 myopathies diagnosed in Padova neuromuscular center [J] . Semplicini C., Bertolin C., Pantic B., Neuromuscular disorders: NMD . 2017,第Suppla2期

机译：新的钙相关肌病的模糊情景：Casq1，Stim1和OraI1诊断的CasQ1，Stim1和Orai1肌病的临床，放射和分子表征
2. Identification and characterization of three novel mutations in the CASQ1 CASQ1 gene in four patients with tubular aggregate myopathy [J] . Barone Virginia, Del Re Valeria, Gamberucci Alessandra, Human mutation . 2017,第12期

机译：四个管状骨膜肿瘤患者Casq1 Casq1基因三种新突变的鉴定与表征
3. Two murine models for tubular aggregate myopathy with mutations in Stim1 and Orai1 [J] . Ogasawara M., Ogawa M., Endo Y., Neuromuscular disorders: NMD . 2019,第Suppla1期

机译：两种小鼠模型，用于管状聚集肌病，肌肉突变和orai1
4. Morphological and Molecular Characterization of Wooden Breast Myopathy in Commercial Broiler Chickens [D] . Babak, Michael Papah. 2019

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5. Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis [O] . Vasyl Nesin, Graham Wiley, Maria Kousi, 2014

机译：STIM1和ORAI1中的激活突变导致肾小管肌病和先天性瞳孔缩小的重叠综合征
6. Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 [O] . Böhm, J, Chevessier, F, Koch, C, 2014

机译：STIM1突变引起的肾小管聚集性肌病患者的临床，组织学和遗传学特征

The blurred scenario of the new Calcium-related myopathies: clinical, radiological and molecular characterization of CASQ1, STIM1 and ORAI1 myopathies diagnosed in Padova neuromuscular center

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