Marta Correa‐Vela

机构：Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío · ORCID：0000-0002-6255-5197

发表论文 14 篇 · 总被引 254 次 · h-index 9

代表论文

Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation (2019 · Parkinsonism & Related Disorders · 被引 44)
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene (2020 · Journal of Inherited Metabolic Disease · 被引 39)
Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood (2019 · Molecular Genetics and Metabolism · 被引 32)
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration (2020 · Movement Disorders · 被引 30)
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect (2020 · Annals of Clinical and Translational Neurology · 被引 28)
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome (2020 · Parkinsonism & Related Disorders · 被引 19)