Publicaciones en colaboración con investigadoras/es de Massachusetts General Hospital (7)

2021

  1. Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration

    Neuropathology and Applied Neurobiology, Vol. 47, Núm. 7, pp. 1092-1108

2020

  1. Neurodegeneration trajectory in pediatric and adult/late DM1: A follow-up MRI study across a decade

    Annals of Clinical and Translational Neurology, Vol. 7, Núm. 10, pp. 1802-1815

  2. 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. FAHN/SPG35: A narrow phenotypic spectrum across disease classifications

    Brain, Vol. 142, Núm. 6, pp. 1561-1572

  2. Regional brain atrophy in gray and white matter is associated with cognitive impairment in Myotonic Dystrophy type 1

    NeuroImage: Clinical, Vol. 24

2016

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

    Nature Communications, Vol. 7

2010

  1. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

    Nature Genetics, Vol. 42, Núm. 3, pp. 234-239