James M. Polke

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese, Roberto Simone, Roisin Sullivan et al. · Nature Genetics · 2019 · 564 citations · Full text

Biallelic Expansion, Neurological Disorder, Genetic Disorder +5

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

Sinéad M. Murphy, Matilde Laurá, Katherine A. Fawcett et al. · Journal of Neurology Neurosurgery & Psychiatry · 2012 · 368 citations

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

Jon Beck, Mark Poulter, Davina J. Hensman Moss et al. · The American Journal of Human Genetics · 2013 · 343 citations · Full text

Neurodegenerative Diseases, Genetic Disorder, Genetics +7

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Andrea Cortese, Stefano Tozza, Wai Yan Yau et al. · Brain · 2020 · 213 citations · Full text

Vestibular Areflexia Syndrome, Motor Dysfunction, Neurological Disorder +18

<i>C9orf72</i> expansions are the most common genetic cause of Huntington disease phenocopies

Davina J. Hensman Moss, Mark Poulter, Jon Beck et al. · Neurology · 2013 · 200 citations · Full text