Natalia Dominik
National Hospital for Neurology and Neurosurgery(GB)University College London(GB)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Liver Disease and Transplantation, Hereditary Neurological Disorders, Liver Disease Diagnosis and Treatment
Most-Cited Works
- → Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease(2021)159 cited
- → RFC1 expansions are a common cause of idiopathic sensory neuropathy(2021)130 cited
- → A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families(2020)92 cited
- → Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis(2023)67 cited
- → An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy(2020)54 cited
- → Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome(2022)50 cited
- → RFC1-related ataxia is a mimic of early multiple system atrophy(2021)41 cited
- → Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies(2021)37 cited
- → Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals(2022)36 cited
- → RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome(2020)31 cited