RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.

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RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.

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http://www.wikidata.org/entity/Q38749268

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2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

@zh

2017年论文

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RYR1-Related Myopathies: Clini ...... a Portuguese Tertiary Centre.

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Item

label

RYR1-Related Myopathies: Clini ...... a Portuguese Tertiary Centre.

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prefLabel

RYR1-Related Myopathies: Clini ...... a Portuguese Tertiary Centre.

@en

P1476

RYR1-Related Myopathies: Clini ...... m a Portuguese Tertiary Centre

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P2093

Manuel Melo Pires

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Manuela Santos

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Márcio Cardoso

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Raquel Samões

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Rosário Santos

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Teresa Coelho

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P2860

Pathogenic mechanisms in centronuclear myopathies

Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum.

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

Central core disease is due to RYR1 mutations in more than 90% of patients.

Congenital myopathies: Natural history of a large pediatric cohort.

Triadin binding to the C-terminal luminal loop of the ryanodine receptor is important for skeletal muscle excitation contraction coupling.

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.

Mutations in RYR1 in malignant hyperthermia and central core disease.

P304

67-76

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P31

scholarly article

P356

10.3233/JND-160199

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P433

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P478

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P50

Ricardo Taipa

Jorge Oliveira

Ana Gonçalves

P577

2017-01-01T00:00:00Z

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P698

28269792

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