Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

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Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

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Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

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Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

@en

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

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Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

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Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

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P1476

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

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P2093

Anna Vihola

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Annalaura Torella

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Anni Evilä

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Bjarne Udd

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Carlo Antozzi

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Carlo Minetti

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Claudio Bruno

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Corrado Angelini

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Elena Pegoraro

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Francesca Magri

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P2860

The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

Titin, a Central Mediator for Hypertrophic Signaling, Exercise-Induced Mechanosignaling and Skeletal Muscle Remodeling

Molecular determinants for the recruitment of the ubiquitin-ligase MuRF-1 onto M-line titin

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

Detection of Genomic Structural Variants from Next-Generation Sequencing Data

Titin-truncating variants affect heart function in disease cohorts and the general population.

A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders.

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

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557-565

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scholarly article

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10.1001/JAMANEUROL.2017.4899

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English

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P478

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P577

2018-05-01T00:00:00Z

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29435569

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5885217

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