222 top medical experts on Lafora Disease across 30 countries and 11 U.S. states, including 32 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Lafora Disease: A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110).
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Progressive Myoclonic Epilepsies (1,240), Nervous System Heredodegenerative Disorders (865).
  4. Clinical Trials ClinicalTrials.gov : at least 2 including 1 Completed
  5. Synonyms: Lafora Progressive Myoclonic Epilepsy,  Lafora Type Progressive Myoclonic Epilepsy


  

        

                    


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  1. Gentry, Matthew S   Emergency Medicine   Google Publications
    Department of Molecular and Cellular Biochemistry, Epilepsy and Brain Metabolism Alliance, and Epilepsy Research Center, University of Kentucky College of Medicine, Lexington, KY 40536, USA; Lafora Epilepsy Cure Initiative LECI, USA. Electronic address: .
    Physician  Highly Cited  Highly Published  Case Reports 
    Relevant US NIH Grant Funding: $12,853,317 over the last 5 years
    Medicare MIPS (Merit-based Incentive Payment System) rating: 78.3/100
    Subjects: Protein Tyrosine Phosphatases, Non-Receptor; Glycogen; Brain; Carrier Proteins; Pancreatic alpha-Amylases
    Categories: Metabolism; Genetics; Analysis; Drug Effects; Enzymology; Methods
    Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme Fusion. (2019)
    Lafora disease offers a unique window into neuronal glycogen metabolism. (2018)

  2. Bridges, Travis M   Physical Medicine & Rehabilitation  Google Publications
    Department of Molecular and Cellular Biochemistry and Center for Structural Biology, University of Kentucky, Lexington, KY 40536, USA.
    Physician 
    Subjects: Carrier Proteins; Transcription Factors; Ubiquitin-Protein Ligases; Evolution, Molecular; Glycogen
    Categories: Metabolism; Genetics; Chemistry; Enzymology
    Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease. (2015)
    Lafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional level. (2011)

  3. Minassian, Berge A   Google Publications
    Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada.
    Scientist  Highly Cited  Highly Published  Clinical Trial  Case Reports 
    Subjects: Glycogen; Glucans; Dual-Specificity Phosphatases; Brain; Muscle, Skeletal
    Categories: Metabolism; Genetics; Pathology; Therapeutic Use; Deficiency; Diagnostic Imaging
    Lafora disease - from pathogenesis to treatment strategies. (2018)
    Efficacy and tolerability of perampanel in ten patients with Lafora disease. (2016)

  4. Armstrong, Dustin D   Hospitalist  Google Publications
    Valerion Therapeutics, Concord, MA 01742, USA.
    Physician  Highly Published 
    Subjects: Pancreatic alpha-Amylases; Brain; Immunoglobulin Fab Fragments; Congresses as Topic; Drug Delivery Systems
    Categories: Drug Effects; Genetics; Pharmacology; Therapy; Trends; Drug Therapy
    Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme Fusion. (2019)
    The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic. (2020)

  5. Sanz, Pascual   Google Publications
    Laboratory of Nutrient Signaling, Institute of Biomedicine of Valencia CSIC, Consejo Superior de Investigaciones Científicas, Jaime Roig 11, 46010, Valencia, Spain.
    Scientist  Highly Cited  Highly Published  Case Reports 
    Subjects: Protein Tyrosine Phosphatases, Non-Receptor; Ubiquitin-Protein Ligases; Carrier Proteins; Autophagy; Glycogen
    Categories: Metabolism; Genetics; Pathology; Enzymology; Deficiency; Physiology
    Laforin, the most common protein mutated in Lafora disease, regulates autophagy. (2010)
    Reactive Glia-Derived Neuroinflammation: a Novel Hallmark in Lafora Progressive Myoclonus Epilepsy That Progresses with Age. (2020)

  6. Nitschke, Felix   Google Publications
    Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Top Hospital
    Scientist  Highly Cited  Highly Published 
    Relevant US NIH Grant Funding: $409,920 over the last 5 years
    Subjects: Glycogen; Glycogen Synthase; Protein Tyrosine Phosphatases, Non-Receptor; Brain; Carrier Proteins
    Categories: Metabolism; Genetics; Pathology; Therapeutic Use; Administration & Dosage; Deficiency
    Lafora disease - from pathogenesis to treatment strategies. (2018)
    An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice. (2021)

  7. Roach, Peter J   Google Publications
    Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202, USA; Lafora Epilepsy Cure Initiative, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
    Scientist  Highly Cited  Highly Published 
    Relevant US NIH Grant Funding: $2,003,751 over the last 5 years
    Subjects: Glycogen; Brain; Drug Discovery; Dual-Specificity Phosphatases; Energy Metabolism
    Categories: Metabolism; Biosynthesis; Diagnosis; Drug Effects; Genetics; Pharmacology
    Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme Fusion. (2019)
    Lafora disease offers a unique window into neuronal glycogen metabolism. (2018)

  8. Guinovart, Joan J   Google Publications
    Institute for Research in Biomedicine IRB Barcelona, The Barcelona Institute of Science and Technology, Barcelona 08028, Spain.
    Scientist  Highly Cited  Highly Published 
    Subjects: Glycogen; Glycogen Synthase; Brain; Astrocytes; Nerve Degeneration
    Categories: Metabolism; Genetics; Pathology; Enzymology; Physiopathology; Trends
    Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease. (2014)
    Lafora disease offers a unique window into neuronal glycogen metabolism. (2018)

  9. Knecht, Erwin  Google Publications
    Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Valencia, Spain.
    Scientist  Highly Cited  Highly Published 
    Subjects: Autophagy; Protein Tyrosine Phosphatases, Non-Receptor; Oxidative Stress; Ubiquitin-Protein Ligases; Dual-Specificity Phosphatases
    Categories: Metabolism; Genetics; Pathology; Physiology; Deficiency; Etiology
    Laforin, the most common protein mutated in Lafora disease, regulates autophagy. (2010)
    Reactive Glia-Derived Neuroinflammation: a Novel Hallmark in Lafora Progressive Myoclonus Epilepsy That Progresses with Age. (2020)

  10. Duran, Jordi   Google Publications
    Institute for Research in Biomedicine IRB Barcelona, The Barcelona Institute of Science and Technology, Barcelona 08028, Spain.
    Scientist  Highly Cited  Highly Published 
    Subjects: Glycogen Synthase; Brain; Glycogen; Astrocytes; Nerve Degeneration
    Categories: Metabolism; Genetics; Pathology; Enzymology; Physiopathology
    Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease. (2014)
    Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease. (2011)

  11. Nitschke, Silvia   Google Publications
    Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada.
    Scientist  Highly Cited  Highly Published 
    Subjects: Glycogen; Glycogen Synthase; Protein Tyrosine Phosphatases, Non-Receptor; Carrier Proteins; Glucans
    Categories: Metabolism; Genetics; Therapeutic Use; Administration & Dosage; Deficiency; Methods
    Lafora disease - from pathogenesis to treatment strategies. (2018)
    An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice. (2021)

  12. Taylor, Adam O   Obstetrics & Gynecology  Google Publications
    Department of Molecular and Cellular Biochemistry and Center for Structural Biology, University of Kentucky, Lexington, KY 40536, USA.
    Physician 
    Subjects: Protein Tyrosine Phosphatases, Non-Receptor; Dual-Specificity Phosphatases; Glycogen
    Categories: Metabolism; Analysis; Chemistry; Enzymology
    Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease. (2015)
    Laforin, a dual specificity phosphatase involved in Lafora disease, is present mainly as monomeric form with full phosphatase activity. (2011)

  13. Turnbull, Julie  Google Publications
    Program in Genetics and Genome Biology, University of Toronto, Toronto, Ontario, Canada.
    Scientist  Highly Cited  Highly Published  Case Reports 
    Subjects: Glycogen; Glucans; Intracellular Signaling Peptides and Proteins; Muscle, Skeletal; Ubiquitin-Protein Ligases
    Categories: Metabolism; Pathology; Genetics; Antagonists & Inhibitors; Enzymology; Biosynthesis
    PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease. (2011)
    Inhibiting glycogen synthesis prevents Lafora disease in a mouse model. (2013)

  14. Aguado, Carmen  Google Publications
    Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Valencia, Spain.
    Scientist  Highly Cited  Highly Published 
    Subjects: Autophagy; Oxidative Stress; Protein Tyrosine Phosphatases, Non-Receptor; Dual-Specificity Phosphatases; Ubiquitin-Protein Ligases
    Categories: Metabolism; Genetics; Physiology; Deficiency; Etiology; Pathology
    Laforin, the most common protein mutated in Lafora disease, regulates autophagy. (2010)
    Reactive Glia-Derived Neuroinflammation: a Novel Hallmark in Lafora Progressive Myoclonus Epilepsy That Progresses with Age. (2020)

  15. Knupp, Kelly   Neurodevelopmental Disabilities  Google Publications
    University of Colorado K.K., Aurora; and Mayo Clinic E.W., Rochester, MN. Top Hospital
    Physician 
    Medical school: University of New Mexico School of Medicine (MD, 1997)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 99.7/100
    Disclosed payments in 2021 from 5 biomedical companies, totalling $4,507.5, including $3,050 from  Zogenix Inc.
    Subjects: Unverricht-Lundborg Syndrome
    Categories: Diagnosis; Epidemiology
    Progressive myoclonic epilepsies: it takes a village to make a diagnosis. (2014)

  16. Austin, Grant L  Google Publications
    Department of Molecular and Cellular Biochemistry, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
    Scientist 
    Subjects: Pancreatic alpha-Amylases; Brain; Immunoglobulin Fab Fragments; Drug Delivery Systems; Drug Discovery
    Categories: Drug Effects; Genetics; Pharmacology; Drug Therapy; Metabolism; Methods
    Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme Fusion. (2019)
    Central Nervous System Delivery and Biodistribution Analysis of an Antibody-Enzyme Fusion for the Treatment of Lafora Disease. (2019)

  17. DePaoli-Roach, Anna A   Google Publications
    Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202, USA; Lafora Epilepsy Cure Initiative, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
    Scientist  Highly Cited  Highly Published 
    Subjects: Glycogen; Brain; Drug Discovery; Dual-Specificity Phosphatases; Glucans
    Categories: Metabolism; Diagnosis; Drug Effects; Genetics; Pharmacology; Isolation & Purification
    Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme Fusion. (2019)
    PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease. (2011)

  18. Brewer, M Kathryn  Google Publications
    Department of Molecular and Cellular Biochemistry, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
    Scientist  Highly Published  Case Reports 
    Subjects: Protein Tyrosine Phosphatases, Non-Receptor; Recombinant Fusion Proteins; Brain; Chickens; Drug Discovery
    Categories: Genetics; Metabolism; Drug Effects; Pharmacology; Chemistry; Immunology
    Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme Fusion. (2019)
    Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease. (2015)

  19. Girard, Jean-Marie  Google Publications
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
    Scientist  Highly Published 
    Subjects: Glucans; Glycogen; Muscle, Skeletal; Brain; Carrier Proteins
    Categories: Metabolism; Pathology; Genetics; Antagonists & Inhibitors; Complications; Etiology
    Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease. (2013)
    Glycogen hyperphosphorylation underlies lafora body formation. (2010)

  20. Ahonen, Saija J  Google Publications
    Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada.
    Scientist  Highly Cited  Highly Published  Case Reports 
    Subjects: Dog Diseases; Glycogen Synthase; Protein Tyrosine Phosphatases, Non-Receptor; Anticonvulsants; Brain
    Categories: Metabolism; Diagnostic Imaging; Methods; Pathology; Therapeutic Use; Administration & Dosage
    Lafora disease - from pathogenesis to treatment strategies. (2018)
    An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice. (2021)

Note:
  1. These experts have limited publications on this topic in our database, so expertise assessment may not be accurate.
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These expert listings are for individual use without a fee. Biotechs, Pharmaceuticals, Recruiters, Consultants, Investors, Law firms, and other organizations may use this only for quick evaluations (no downloads or screen scraping) to identify the top medical experts for recruiting, advisory panels, boards, and consulting. Please contact us for licensing, customized queries, feedback and questions.

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