University of Copenhagen-ko ikertzaileekin lankidetzan egindako argitalpenak (6)

2020

  1. Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies

    Neurology, Vol. 94, Núm. 10, pp. e1094-e1102

  2. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

    Brain, Vol. 143, Núm. 9, pp. 2696-2708

  3. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    Genetics in Medicine, Vol. 22, Núm. 9, pp. 1478-1488

2019

  1. 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

2018

  1. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

    Skeletal Muscle, Vol. 8, Núm. 1

  2. Limb girdle muscular dystrophy due to mutations in POMT2

    Journal of neurology, neurosurgery, and psychiatry, Vol. 89, Núm. 5, pp. 506-512