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 · 581 citations · Full text

Life Sciences, Neurology, Neurogenetics +9

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 · 372 citations

Life Sciences, Genetics, Molecular Genetics +17

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 · 345 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Andrea Cortese, Stefano Tozza, Wai Yan Yau et al. · Brain · 2020 · 220 citations · Full text

Medicine, Molecular Genetics, Neurology +13

<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 · 203 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16