James M. Polke
National Hospital for Neurology and Neurosurgery(GB)Genomics (United Kingdom)(GB)University College London(GB)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Neurological diseases and metabolism, Botulinum Toxin and Related Neurological Disorders
Most-Cited Works
- → Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia(2019)571 cited
- → Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing(2012)370 cited
- → Clinical implications of genetic advances in Charcot–Marie–Tooth disease(2013)354 cited
- → Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population(2013)345 cited
- → Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion(2020)217 cited
- → G‐quadruplex‐binding small molecules ameliorate C9orf72 FTD / ALS pathology in vitro and in vivo(2017)215 cited