Publications en collaboration avec des chercheurs de Aix-Marseille University (5)

2020

  1. Clinical, morphological and genetic characterization of Brody disease: An international study of 40 patients

    Brain, Vol. 143, Núm. 2, pp. 452-466

2018

  1. Muscle MRI in patients with dysferlinopathy: Pattern recognition and implications for clinical trials

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 89, Núm. 10, pp. 1071-1081

  2. Teenage exercise is associated with earlier symptom onset in dysferlinopathy: A retrospective cohort study

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 89, Núm. 11, pp. 1224-1226

2014

  1. Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A

    Muscle and Nerve, Vol. 50, Núm. 3, pp. 448-453

2011

  1. Eosinophilic infiltration related to CAPN3 mutations: A pathophysiological component of primary calpainopathy?

    Clinical Genetics