JUAN J
VILCHEZ PADILLA
TITULAR DE UNIVERSIDAD
Cristina
Domínguez González
Publicaciones en las que colabora con Cristina Domínguez González (5)
2023
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Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
Journal of Neurology, Vol. 270, Núm. 12, pp. 5849-5865
2020
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Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia
Journal of Medical Genetics, Vol. 57, Núm. 9, pp. 643-646
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Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum
Journal of Neurology, Vol. 267, Núm. 9, pp. 2546-2555
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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Genetics in Medicine, Vol. 22, Núm. 9, pp. 1478-1488
2019
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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