Elena Cellini
0000-0001-7597-940X
Publication & Citation Trends
Most Cited Works
Publications
83 total
Fever‐Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy OA
Cited by 4
Semantic Scholar
Distinct epilepsy phenotypes and response to drugs in KCNA1 gain‐ and loss‐of function variants OA
Cited by 29
Semantic Scholar
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples OA
Cited by 2
Semantic Scholar
Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly
Cited by 1
Semantic Scholar
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity OA
Cited by 22
Semantic Scholar
De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants
Cited by 34
Semantic Scholar
Severe 5,10‐methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia
Cited by 17
Semantic Scholar
Research Topics
Alzheimer's disease research and treatments
(24)
Eating Disorders and Behaviors
(18)
Mitochondrial Function and Pathology
(9)
Genetic Neurodegenerative Diseases
(8)
Genetics and Neurodevelopmental Disorders
(8)
Frequent Co-Authors
Affiliations
University of Perugia
Ospedale di Bolzano
ASL Roma
Meyer Children's Hospital
Max Planck Institute for Metabolism Research