World's Best Scientists 2026 revealed!

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Genetics

D-Index
93
Citations
37156
World Ranking
967
National Ranking
475

Medicine

D-Index
96
Citations
38604
World Ranking
9566
National Ranking
4929

Overview

Kenneth H. Fischbeck is affiliated with the National Institutes of Health in the United States. Their research spans multiple intersecting fields including medicine, biochemistry, genetics, molecular biology, and neuroscience, with a strong focus on genetic and neurodegenerative disorders.

The scientist's work covers several subfields such as genetics, molecular biology, cellular and molecular neuroscience, neurology, and rheumatology. Their research primarily addresses topics related to neurogenetic and muscular disorders, genetic neurodegenerative diseases, neurological diseases and metabolism, neurological disorders and treatments, muscle physiology and disorders, hereditary neurological disorders, and genetics and neurodevelopmental disorders.

Fischbeck has published extensively in prominent journals, with frequent contributions to:

  • Journal of Neurology Neurosurgery & Psychiatry
  • Annals of Neurology
  • Brain Communications
  • Neurobiology of Disease
  • Journal of Rehabilitation Medicine - Clinical Communications

Several recent papers illustrate the scope of their research:

  • Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA), 2020, Journal of Neurology Neurosurgery & Psychiatry
  • Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity, 2021, Science Advances
  • Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4, 2020, Annals of Neurology
  • Linking epigenetic dysregulation, mitochondrial impairment, and metabolic dysfunction in SBMA motor neurons, 2020, JCI Insight
  • Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy, 2021, Brain Communications

Fischbeck collaborates frequently with other researchers, including:

  • Christopher Grunseich
  • Lassana Cissé
  • Salimata Diarra
  • Guida Landouré
  • Abdoulaye Yalcouyé

Best Publications

  • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.

    Albert R. La Spada;Elizabeth M Wilson;Dennis B Lubahn;A. E Harding

  • Toxic proteins in neurodegenerative disease.

    J. Paul Taylor;John Hardy;Kenneth H. Fischbeck

  • Connexin mutations in X-linked Charcot-Marie-Tooth disease.

    J Bergoffen;SS Scherer;S Wang;MO Scott

  • Mutant dynactin in motor neuron disease.

    Imke Puls;Catherine Jonnakuty;Bernadette H. LaMonte;Erika L.F. Holzbaur

  • Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy

    Hoffman Ep;Fischbeck Kh;Brown Rh;Johnson M

  • Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

    Nancy S. Wexler;Judith Lorimer;Julie Porter;Fidela Gomez

  • DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

    Ying Zhang Chen;Craig L. Bennett;Huy M. Huynh;Ian P. Blair

  • Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3

    H.L Paulson;M.K Perez;Y Trottier;J.Q Trojanowski

  • Expanded Polyglutamine Protein Forms Nuclear Inclusions and Causes Neural Degeneration in Drosophila

    John M Warrick;Henry L Paulson;Gladys L Gray-Board;Quang T Bui

  • CREB-binding protein sequestration by expanded polyglutamine

    Alexander McCampbell;J. Paul Taylor;Addis A. Taye;Jon Robitschek

  • Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

    Anthony Antonellis;Anthony Antonellis;Rachel E. Ellsworth;Nyamkhishig Sambuughin;Imke Puls

  • Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing protein

    J. Paul Taylor;Fumiaki Tanaka;Jon Robitschek;C. Miguel Sandoval

  • The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs.

    Barry J. Cooper;Nena J. Winand;Hansell Stedman;Beth A. Valentine

  • Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.

    La Spada Ar;Roling Db;Harding Ae;Warner Cl

  • Connexin32 is a myelin-related protein in the PNS and CNS

    Steven S. Scherer;Suzanne M. Deschênes;Yi-Tian Xu;Judith B. Grinspan

  • Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy

    Mei Li;S. Miwa;Y. Kobayashi;Y. Kobayashi;D. E. Merry

  • Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

    Anthony P. Monaco;Anthony P. Monaco;Corlee J. Bertelson;Corlee J. Bertelson;William Middlesworth;Chris Anne Colletti

  • The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.

    V. Timmerman;E. Nelis;W. Van Hui;B. W. Nieuwenhuijsen

  • Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy

    Amy M. Avila;Barrington G. Burnett;Addis A. Taye;Francesca Gabanella

  • Trinucleotide repeats in neurogenetic disorders

    H. L. Paulson;K. H. Fischbeck

Frequent Co-Authors

Steven S. Scherer
Steven S. Scherer University of Pennsylvania
J. Paul Taylor
J. Paul Taylor St. Jude Children's Research Hospital
Andrew P. Lieberman
Andrew P. Lieberman University of Michigan–Ann Arbor
Gen Sobue
Gen Sobue Aichi Medical University
Henry L. Paulson
Henry L. Paulson University of Michigan–Ann Arbor
Garth A. Nicholson
Garth A. Nicholson University of Sydney
Kevin Talbot
Kevin Talbot University of Oxford
Leslie G. Biesecker
Leslie G. Biesecker National Institutes of Health
Albert R. La Spada
Albert R. La Spada University of California, Irvine
Masahisa Katsuno
Masahisa Katsuno Nagoya University

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