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85
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Research.com Recognitions

  • Fellow of The Academy of Medical Sciences, United Kingdom
  • Fellow of The Academy of Medical Sciences, United Kingdom

Overview

Mary M. Reilly is a researcher affiliated with University College London in the United Kingdom. Their work spans several interconnected disciplines including neuroscience, biochemistry, genetics, molecular biology, and medicine.

The main fields of study for their research are:

  • Neuroscience
  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Their specialized subfields include:

  • Cellular and Molecular Neuroscience
  • Molecular Biology
  • Neurology
  • Genetics
  • Cell Biology

Mary M. Reilly's research focuses on several main topics, with particular attention to:

  • Hereditary Neurological Disorders
  • Genetic Neurodegenerative Diseases
  • Peripheral Neuropathies and Disorders
  • Neurological diseases and metabolism
  • Neurogenetic and Muscular Disorders Research
  • Mitochondrial Function and Pathology
  • Botulinum Toxin and Related Neurological Disorders

Their recent papers illustrate contributions to inherited neuropathies and related neurological conditions. Selected publications include:

  • "Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion," 2020, Brain
  • "Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes," 2020, Nature Genetics
  • "RFC1 expansions are a common cause of idiopathic sensory neuropathy," 2021, Brain
  • "The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy," 2021, Science
  • "Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis," 2022, Journal of Neurology Neurosurgery & Psychiatry

Mary M. Reilly frequently collaborates with other researchers. Their common co-authors are:

  • Alexander M. Rossor
  • Henry Houlden
  • Michael E. Shy
  • Matilde Laurá
  • Andrea Cortese

The primary publication venues in which Mary M. Reilly has contributed include:

  • Brain
  • Journal of Neurology Neurosurgery & Psychiatry
  • Journal of the Peripheral Nervous System
  • Neurology
  • bioRxiv (Cold Spring Harbor Laboratory)

Mary M. Reilly has received recognition as a Fellow of The Academy of Medical Sciences in the United Kingdom.

Best Publications

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

    Michael E. Shy;J. Blake;K. Krajewski;D. R. Fuerst

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

    Andrea Cortese;Roberto Simone;Roisin Sullivan;Jana Vandrovcova

  • 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

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

    Sinead M Murphy;Matilde Laura;Katherine Fawcett;Amelie Pandraud

  • Clinical implications of genetic advances in Charcot–Marie–Tooth disease

    Alexander M. Rossor;James M. Polke;Henry Houlden;Mary M. Reilly

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

    Sine´ad M. Murphy;David N. Herrmann;Michael P. McDermott;Steven S. Scherer

  • CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

    V Fridman;B Bundy;M M Reilly;D Pareyson

  • MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study

    Jasper M Morrow;Christopher D J Sinclair;Arne Fischmann;Arne Fischmann;Pedro M Machado

  • Charcot-Marie-Tooth disease.

    Mary M. Reilly;Sinéad M. Murphy;Matilde Laurá

  • Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

    Davide Pareyson;Mary M Reilly;Angelo Schenone;Gian Maria Fabrizi

  • MFN2 mutations cause severe phenotypes in most patients with CMT2A

    S.M.E. Feely;M. Laura;C.E. Siskind;S. Sottile

  • Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

    H. Houlden;M. Laura;F. Wavrant–De Vrièze;J. Blake

  • The distal hereditary motor neuropathies

    Alexander M Rossor;Bernadett Kalmar;Linda Greensmith;Mary M Reilly

  • Whole-genome sequencing of a sporadic primary immunodeficiency cohort

    Thaventhiran Jed.;H Lango Allen;O S Burren;W Rae

  • Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

    M.B. Harms;K.M. Ori-McKenney;M. Scoto;E.P. Tuck

  • Randomised controlled trial of methotrexate for chronic inflammatory demyelinating polyradiculoneuropathy (RMC trial): a pilot, multicentre study

    M. Mahdi-Rogers;C. Rutterford;R. A.C. Hughes;J. M. Léger

  • KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

    Jean-Baptiste Rivière;Siriram Ramalingam;Valérie Lavastre;Masoud Shekarabi

  • Diagnosis and new treatments in genetic neuropathies

    Mary M Reilly;Michael Shy

  • Plasma neurofilament light chain concentration in the inherited peripheral neuropathies.

    Åsa Sandelius;Henrik Zetterberg;Kaj Blennow;Rocco Adiutori

  • Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

    A. Reghan Foley;Manoj P. Menezes;Manoj P. Menezes;Amelie Pandraud;Michael A. Gonzalez

Frequent Co-Authors

Henry Houlden
Henry Houlden University College London
Michael E. Shy
Michael E. Shy University of Iowa
Michael G. Hanna
Michael G. Hanna University College London
Francesco Muntoni
Francesco Muntoni University College London
Tarek A. Yousry
Tarek A. Yousry University College London
Stephan Züchner
Stephan Züchner University of Miami
Sebastian Brandner
Sebastian Brandner University College London
Steven S. Scherer
Steven S. Scherer University of Pennsylvania
Nicholas W. Wood
Nicholas W. Wood University College London
Mary B. Davis
Mary B. Davis University College London

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