Stéphanie Efthymiou
National Hospital for Neurology and Neurosurgery(GB)University College London(GB)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Mitochondrial Function and Pathology, Genetic Neurodegenerative Diseases, Hereditary Neurological Disorders
Most-Cited Works
- → Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia(2019)571 cited
- → AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders(2019)242 cited
- → Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion(2020)217 cited
- → RFC1 expansions are a common cause of idiopathic sensory neuropathy(2021)130 cited
- → Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment(2019)125 cited
- → The genetics of intellectual disability: advancing technology and gene editing(2020)108 cited
- → Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons(2019)88 cited
- → Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome(2018)86 cited
- → Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification(2020)82 cited
- → PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment(2017)73 cited