Neurociencias - GIC 21/019
Johns Hopkins University School of Medicine
Baltimore, Estados UnidosPublicaciones en colaboración con investigadoras/es de Johns Hopkins University School of Medicine (4)
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
2022
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Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
Journal of Neurology, Neurosurgery and Psychiatry, Vol. 93, Núm. 10, pp. 1099-1111
2013
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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders
European Journal of Human Genetics, Vol. 21, Núm. 10, pp. 1074-1078