ROBERTO
FERNÁNDEZ TORRON
KU Leuven
Lovaina, BélgicaPublications en collaboration avec des chercheurs de KU Leuven (6)
2023
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Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
Journal of Neurology, Vol. 270, Núm. 12, pp. 5849-5865
2020
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Brain, Vol. 143, Núm. 9, pp. 2696-2708
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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
2018
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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
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Limb girdle muscular dystrophy due to mutations in POMT2
Journal of neurology, neurosurgery, and psychiatry, Vol. 89, Núm. 5, pp. 506-512