JUAN J
VILCHEZ PADILLA
TITULAR DE UNIVERSIDAD
University of Copenhagen
Copenhague, DinamarcaPublicaciones en colaboración con investigadores/as de University of Copenhagen (4)
2023
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Human skeletal myopathy myosin mutations disrupt myosin head sequestration
JCI Insight, Vol. 8, Núm. 21
2022
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NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy
Acta Neuropathologica Communications, Vol. 10, Núm. 1
2020
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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Genetics in Medicine, Vol. 22, Núm. 9, pp. 1478-1488
2019
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Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
Journal of Neurology, Neurosurgery and Psychiatry, Vol. 90, Núm. 5, pp. 576-585