ENFERMEDADES NEUROMUSCULARES
George Washington University
Washington, Estados UnidosPublications en collaboration avec des chercheurs de George Washington University (8)
2022
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Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study
Muscle and Nerve, Vol. 65, Núm. 5, pp. 531-540
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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
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Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
Neuromuscular Disorders, Vol. 31, Núm. 4, pp. 265-280
2020
2019
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Assessment of disease progression in dysferlinopathy: A 1-year cohort study
Neurology, Vol. 92, Núm. 5, pp. E461-E474
2018
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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
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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
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PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome
Neurology, Vol. 60, Núm. 11, pp. 1811-1816