Publicacións en colaboración con investigadores/as de University of Helsinki (9)

2024

  1. Correction to: 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, (2023), 270, 12, (5849-5865), 10.1007/s00415-023-11862-4)

    Journal of Neurology

2023

  1. 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

2022

  1. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 93, Núm. 10, pp. 1099-1111

2020

  1. Genotype–phenotype correlations in recessive titinopathies

    Genetics in Medicine, Vol. 22, Núm. 12, pp. 2029-2040

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

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

2016

  1. Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

    Nature Communications, Vol. 7

2015

  1. Large-scale recent expansion of European patrilineages shown by population resequencing

    Nature Communications, Vol. 6

  2. The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades

    Molecular Biology and Evolution, Vol. 32, Núm. 3, pp. 661-673

2011

  1. Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy

    Nature Medicine, Vol. 17, Núm. 6, pp. 720-725