M
Mary M. Reilly
Researcher at UCL Institute of Neurology
Publications - 457
Citations - 15095
Mary M. Reilly is an academic researcher from UCL Institute of Neurology. The author has contributed to research in topics: Medicine & Transthyretin. The author has an hindex of 61, co-authored 419 publications receiving 12326 citations. Previous affiliations of Mary M. Reilly include Suffolk University & University of Cambridge.
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Journal ArticleDOI
Reliability and validity of the CMT neuropathy score as a measure of disability
Michael E. Shy,Julian Blake,Katherine M. Krajewski,Darren R. Fuerst,Matilde Laura,A. Hahn,Jun Li,Richard A. Lewis,Mary M. Reilly +8 more
TL;DR: The Charcot-Marie-Tooth disease (CMT) neuropathy score is a validated measure of length-dependent axonal and demyelinating CMT disability and can be investigated as an end point for longitudinal studies and clinical trials of CMT.
Journal ArticleDOI
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.
Anke Penno,Anke Penno,Mary M. Reilly,Henry Houlden,Matilde Laura,Katharina Rentsch,Vera Niederkofler,Esther T. Stoeckli,Garth A. Nicholson,Florian Eichler,Robert H. Brown,Robert H. Brown,Arnold von Eckardstein,Arnold von Eckardstein,Thorsten Hornemann,Thorsten Hornemann +15 more
TL;DR: It is concluded that HSAN1 is caused by a gain of function mutation, which results in the formation of two atypical and neurotoxic sphingolipid metabolites.
Journal ArticleDOI
Clinical implications of genetic advances in Charcot–Marie–Tooth disease
TL;DR: This Review discusses how NGS is being employed in the diagnostic evaluation of patients with CMT and how the genetic advances in CMT are influencing clinical practice, and explores how genetic advances have broadened the phenotype of C MT and related disorders.
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Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Andrea Cortese,Roberto Simone,Roisin Sullivan,Jana Vandrovcova,Huma Tariq,Wai Yan Yau,Jack Humphrey,Zane Jaunmuktane,Prasanth Sivakumar,James M. Polke,Muhammad Ilyas,Eloise Tribollet,Pedro J. Tomaselli,Grazia Devigili,Ilaria Callegari,Maurizio Versino,Vincenzo Salpietro,Stephanie Efthymiou,Diego Kaski,Nicholas W. Wood,Nadja S. Andrade,Elena Buglo,Adriana P. Rebelo,Alexander M. Rossor,Adolfo M. Bronstein,Pietro Fratta,Wilson Marques,Stephan Züchner,Mary M. Reilly,Henry Houlden +29 more
TL;DR: Non-parametric linkage analysis and genome sequencing are used to identify a biallelic intronic AAGGG repeat expansion in the replication factor C subunit 1 (RFC1) gene as the cause of familial CANVAS and a frequent cause of late-onset ataxia, particularly if sensory neuronopathy and bilateral vestibular areflexia coexist.
Journal ArticleDOI
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease
Sinéad M. Murphy,David N. Herrmann,Michael P. McDermott,Steven S. Scherer,Michael E. Shy,Mary M. Reilly,Davide Pareyson +6 more
TL;DR: There were small but significant differences in some of the individual components of the CMTNS compared with theCMTNS2, mainly in the components that had been modified the most.