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  1. Article

    Open Access

    Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis

    Diana Esteller, Marianela Schiava, José Verdú-Díaz in Journal of Neurology (2024)

  2. Article

    Open Access

    Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

    The diagnosis of patients with mutations in the VCP gene can be complicated due to their broad phenotypic spectrum including myopathy, motor neuron disease and peripheral neuropathy. Muscle MRI guides the diagnos...

    Diana Esteller, Marianela Schiava, José Verdú-Díaz in Journal of Neurology (2023)

  3. Article

    Open Access

    Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations

    Duchenne muscular dystrophy is a genetic disease produced by mutations in the dystrophin gene characterized by early onset muscle weakness leading to severe and irreversible disability. The cellular and molecu...

    Xavier Suárez-Calvet, Esther Fernández-Simón, Daniel Natera in Cell Death & Disease (2023)