Mary M. Reilly

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

Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

Anke Penno, Mary M. Reilly, Henry Houlden et al. · Journal of Biological Chemistry · 2010 · 378 citations · Full text

Medicine, Neurobiology, Neuroscience +17

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

Reliability of the CMT neuropathy score (second version) in Charcot‐Marie‐Tooth disease

Sinéad M. Murphy, David N. Herrmann, Michael McDermott et al. · Journal of the Peripheral Nervous System · 2011 · 355 citations · Full text

Medicine, Neurology, Neuromusculoskeletal Assessment +14

Reliability and validity of the CMT neuropathy score as a measure of disability

Michael E. Shy, J. Blake, Krzysztof Krajewski et al. · Neurology · 2005 · 353 citations

Medicine, Neurology, Neuroscience +17