Publikationen in Zusammenarbeit mit Forschern von George Washington University (8)

2022

  1. Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study

    Muscle and Nerve, Vol. 65, Núm. 5, pp. 531-540

  2. Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy

    Journal of Cachexia, Sarcopenia and Muscle, Vol. 13, Núm. 3, pp. 1850-1863

2021

  1. Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease

    Neuromuscular Disorders, Vol. 31, Núm. 4, pp. 265-280

2020

  1. Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy

    Frontiers in Neurology, Vol. 11

2019

  1. Assessment of disease progression in dysferlinopathy: A 1-year cohort study

    Neurology, Vol. 92, Núm. 5, pp. E461-E474

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

2003

  1. PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome

    Neurology, Vol. 60, Núm. 11, pp. 1811-1816