M. Troncoso
Hospital San Borja Arriarán(CL)University of Chile(CL)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Epilepsy research and treatment, Blood Coagulation and Thrombosis Mechanisms, RNA regulation and disease
Most-Cited Works
- → The phenotypic spectrum of SCN8A encephalopathy(2015)283 cited
- → Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency(2006)268 cited
- → Monogenic variants in dystonia: an exome-wide sequencing study(2020)206 cited
- → Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I(2009)175 cited
- → The effect of genotype on the natural history of eIF2B-related leukodystrophies(2004)166 cited
- → Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation(2001)150 cited
- → Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America(2012)51 cited
- → Autism screening and conditional cash transfers in Chile: Using the Quantitative Checklist (Q-CHAT) for early autism detection in a low resource setting(2020)34 cited
- → The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome(2019)31 cited
- → Dyslipidemia in Children With Arterial Ischemic Stroke: Prevalence and Risk Factors(2017)30 cited