Jacopo Baldacci

Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families

Giovanna De Michele, Giovanna De Michele, Maria Lieto et al. · Parkinsonism & Related Disorders · 2019 · 55 citations

Medicine, Neurology, Neuroscience +15

Next-generation sequencing approach to hyperCKemia

Anna Rubegni, Alessandro Malandrini, Claudia Dosi et al. · Neurology Genetics · 2019 · 47 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Loss of <i>ap4s1</i> in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52

Angelica D’Amore, Alessandra Tessa, Valentina Naef et al. · Annals of Clinical and Translational Neurology · 2020 · 24 citations · Full text

Life Sciences, Genetics, Neuroscience +16

Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan

Maria Marchese, Andrea A. Pappalardo, Jacopo Baldacci et al. · Biochemical and Biophysical Research Communications · 2016 · 21 citations

Life Sciences, Biochemistry, Molecular Biology +14

The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study

Deborah Tolomeo, Daniele Orsucci, Claudia Nesti et al. · Journal of Clinical Medicine · 2021 · 11 citations · Full text

Life Sciences, Genetics, Pediatrics +17