Marcos Madruga
Hospital San Juan de la Cruz(ES)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Neurological diseases and metabolism, RNA Research and Splicing, Genetics and Neurodevelopmental Disorders, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis(2018)628 cited
- → Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy(2012)53 cited
- → Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease(2017)44 cited
- → PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression(2018)41 cited
- → Association of Group A Streptococcus Exposure and Exacerbations of Chronic Tic Disorders(2021)39 cited
- → COVID-19 in children with neuromuscular disorders(2021)28 cited
- → Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study(2017)28 cited
- → Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male(2010)26 cited
- → Desmin Modulates Muscle Cell Adhesion and Migration(2022)17 cited
- → Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome(2020)17 cited