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D-Index
84
Citations
22032
World Ranking
15265
National Ranking
7700

Overview

Michael E. Shy is affiliated with the University of Iowa in the United States. Their research primarily focuses on hereditary neurological disorders, genetic neurodegenerative diseases, and neurogenetic and muscular disorders. They also explore topics related to botulinum toxin and related neurological disorders, neurological diseases and metabolism, peripheral neuropathies and disorders, and endoplasmic reticulum stress and disease.

Their work spans several main fields of study including neuroscience, biochemistry, genetics and molecular biology, and medicine, with significant contributions particularly in cellular and molecular neuroscience, neurology, molecular biology, genetics, and cell biology.

Michael E. Shy's recent publications include the following papers:

  • Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (2020, Nature Genetics)
  • The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy (2021, Science)
  • Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study (2020, Brain)
  • Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A (2020, eLife)
  • A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores (2020, Neurology)

Frequent co-authors collaborating with Michael E. Shy include:

  • Mary M. Reilly
  • Shawna Feely
  • Davide Pareyson
  • Joshua Burns
  • David N. Herrmann

Their research outputs have frequently been published in these venues:

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

Best Publications

  • Quantitative sensory testing: Report of the therapeutics and technology assessment subcommittee of the American academy of neurology

    M. E. Shy;E. M. Frohman;Y. T. So;J. C. Arezzo

  • Charcot-Marie-Tooth Disease Subtypes and Genetic Testing Strategies

    Anita S.D. Saporta;Stephanie L. Sottile;Lindsey J. Miller;Shawna M.E. Feely

  • Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

    Clement Y. Chow;Yanling Zhang;James J. Dowling;Natsuko Jin

  • Neurological dysfunction and axonal degeneration in Charcot–Marie–Tooth disease type 1A

    Karen M. Krajewski;Richard A. Lewis;Darren R. Fuerst;Cheryl Turansky

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

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

  • MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

    Kristien Verhoeven;Kristl G. Claeys;Stephan Züchner;Stephan Züchner;J. Michael Schröder

  • Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.

    Stephan Züchner;Peter De Jonghe;Albena Jordanova;Albena Jordanova;Kristl G. Claeys

  • Randomized controlled trial of IVIg in untreated chronic inflammatory demyelinating polyradiculoneuropathy.

    J. R. Mendell;R. J. Barohn;M. L. Freimer;J. T. Kissel

  • Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

    A. Jordanova;P. De Jonghe;C. F. Boerkoel;H. Takashima

  • 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

  • Phenotypic clustering in MPZ mutations.

    Michael E. Shy;Agnes Jáni;Karen Krajewski;Marina Grandis

  • 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

  • Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.

    James Y. Garbern;Donald A. Yool;Gregory J. Moore;Ian B. Wilds

  • Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

    Cornelius F. Boerkoel;Hiroshi Takashima;Carlos A. Garcia;Richard K. Olney

  • Vitamin A controls epithelial/mesenchymal interactions through Ret expression.

    Ekatherina Batourina;Suzanna Gim;Natalie Bello;Michael Shy

  • MFN2 mutations cause severe phenotypes in most patients with CMT2A

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

  • Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

    Claudia Gonzaga-Jauregui;Claudia Gonzaga-Jauregui;Tamar Harel;Tomasz Gambin;Maria Kousi

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

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

  • Monoclonal IgM with unique specificity to gangliosides GM1 and GD1b and to lacto‐N ‐tetraose associated with human motor neuron disease

    N. Latov;A. P. Hays;P. D. Donofrio;J. Liao H. Ito

  • GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria

    Laia Pedrola;Antonio Espert;Xingyao Wu;Reyes Claramunt

Frequent Co-Authors

Mary M. Reilly
Mary M. Reilly University College London
John Kamholz
John Kamholz University of Iowa Hospitals and Clinics
Steven S. Scherer
Steven S. Scherer University of Pennsylvania
Francesco Muntoni
Francesco Muntoni University College London
Stephan Züchner
Stephan Züchner University of Miami
Richard S. Finkel
Richard S. Finkel St. Jude Children's Research Hospital
Lawrence Wrabetz
Lawrence Wrabetz University at Buffalo, State University of New York
Garth A. Nicholson
Garth A. Nicholson University of Sydney
Thomas D. Bird
Thomas D. Bird University of Washington
James R. Lupski
James R. Lupski Baylor College of Medicine

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