Publications en collaboration avec des chercheurs de University of Tampere (5)

2024

  1. Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

    Brain : a journal of neurology, Vol. 147, Núm. 5, pp. 1887-1898

2020

  1. Genotype–phenotype correlations in recessive titinopathies

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

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

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

2016

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

    Nature Communications, Vol. 7

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