M. Troncoso

The phenotypic spectrum of <i>SCN8A</i> encephalopathy

Jan Larsen, Gemma L. Carvill, Elena Gardella et al. · Neurology · 2015 · 282 citations · Full text

Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

Stefan Kölker, Sven F. Garbade, Cheryl R. Greenberg et al. · Pediatric Research · 2006 · 266 citations · Full text

Nutrition, Metabolic Disorder, Pediatric Hematology +8

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch et al. · The Lancet Neurology · 2020 · 206 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I

Inga Harting, Eva Neumaier‐Probst, Angelika Seitz et al. · Brain · 2009 · 173 citations

The effect of genotype on the natural history of eIF2B-related leukodystrophies

Anne Fogli, Raphael Schiffmann, Enrico Bertini et al. · Neurology · 2004 · 166 citations