Publikationen in Zusammenarbeit mit Forschern von Radboud University Nijmegen Medical Centre (6)

2024

  1. Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review

    Journal of neuromuscular diseases, Vol. 11, Núm. 3, pp. 567-577

2023

  1. 267th ENMC International workshop: psychological interventions for improving quality of life in slowly progressive neuromuscular disorders

    Neuromuscular Disorders

2022

  1. Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

    Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842

  2. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

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

2016

  1. Double SMCHD1 variants in FSHD2: The synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

    European Journal of Human Genetics, Vol. 24, Núm. 1, pp. 78-85