Serena Galosi
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Neurological disorders and treatments, Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology
Most-Cited Works
- → GNAO1 encephalopathy(2017)104 cited
- → KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation(2020)104 cited
- → Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review(2018)87 cited
- → Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study(2019)78 cited
- → Caenorhabditis elegans provides an efficient drug screening platform for GNAO1 -related disorders and highlights the potential role of caffeine in controlling dyskinesia(2021)42 cited
- → De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus(2021)40 cited
- → Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene(2020)38 cited
- → GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments(2023)36 cited
- → Parkinsonism in children: Clinical classification and etiological spectrum(2020)33 cited
- → Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile(2021)33 cited