Marıá Mercedes Villanueva
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Lysosomal Storage Disorders Research, Glycogen Storage Diseases and Myoclonus, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions(2020)36 cited
- → Clinical aspects of neuropathic lysosomal storage disorders(2010)35 cited
- → No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome(2015)33 cited
- → De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome(2019)26 cited
- → X-linked adrenoleukodystrophy: Clinical course and minimal incidence in South Brazil(2009)22 cited
- → Esophageal atresia and prenatal exposure to mycophenolate(2014)13 cited
- → Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa(2024)5 cited
- → Parental Ratings Indicate Effectiveness Of The Pediatric Asthma Disease Management Program(2010)
- No locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome(2014)