284 top medical experts on Distal Myopathies across 40 countries and 24 U.S. states, including 126 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Distal Myopathies: A heterogeneous group of genetic disorders characterized by progressive muscular atrophy and muscle weakness beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Muscular Dystrophies (1,543).
  4. Clinical Trials ClinicalTrials.gov : at least 15 including 10 Completed, 2 Recruiting
  5. Synonyms: Distal Muscular Dystrophy


  

        

                    


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  1. Carrillo, Nuria   Pediatrics   ClinicalTrials.gov Google Publications
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Physician  Highly Published  Clinical Trial 
    Disclosed payments from biomedical company (Ultragenyx Pharmaceutical Inc.) in 2021 for $4,250
    Subjects: Hexosamines; Muscle, Skeletal; Bayes Theorem; Disease Progression; Lectins
    Categories: Diagnostic Imaging; Pathology; Adverse Effects; Blood; Drug Therapy; Pharmacokinetics
    Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy. (2017)
    Bayesian model of disease progression in GNE myopathy. (2019)

  2. Weihl, Conrad C   Neurology   Google Publications
    Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA. Top Hospital
    Physician  Highly Published  Case Reports 
    Medical school: University of Chicago, Pritzker School of Medicine (MD, 2002)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 84/100
    Disclosed payments in 2021 from 2 biomedical companies, totalling $2,800, including $2,800 from  Sarepta Therapeutics, Inc.
    Subjects: Adaptor Proteins, Signal Transducing; Amyotrophic Lateral Sclerosis; Frontotemporal Dementia; HSP40 Heat-Shock Proteins; Molecular Chaperones
    Categories: Genetics; Diagnosis; Pathology
    TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations. (2018)
    SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. (2015)

  3. Felice, Kevin J   Neuromuscular Medicine   Google Publications
    Department of Neuromuscular Medicine, Muscular Dystrophy Association Care Center, Hospital for Special Care, New Britain, CT.
    Physician  Case Reports 
    Disclosed payments in 2021 from 40 biomedical companies, totalling $691.06, including $208.96 from  Xeris Pharmaceuticals, Inc.
    Subjects: Mutation; Multienzyme Complexes
    Categories: Genetics; Diagnosis; Enzymology
    Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent. (2010)
    Laing Myopathy: Report of 4 New Families With Novel MYH7 Mutations, Double Mutations, and Severe Phenotype. (2020)

  4. Liewluck, Teerin   Neurology  Google Publications
    Division of Neuromuscular Medicine, Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA. Top Hospital
    Physician  Highly Published  Case Reports 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 79.7/100
    Subjects: Actins; Blood Platelets; Collagen Type XII; Genes, Dominant; Mutation
    Categories: Genetics; Pathology; Therapeutic Use
    The unfolding spectrum of inherited distal myopathies. (2019)
    Dominant collagen XII mutations cause a distal myopathy. (2019)

  5. Milone, Margherita   Neurology   Google Publications
    Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA. Top Hospital
    Physician  Highly Published  Case Reports 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 79.7/100
    Subjects: Actins; Cardiac Myosins; Muscle, Skeletal; Mutation; Myosin Heavy Chains
    Categories: Genetics; Diagnosis; Pathology; Physiopathology
    The unfolding spectrum of inherited distal myopathies. (2019)
    Autosomal dominant distal myopathy due to a novel ACTA1 mutation. (2017)

  6. Pestronk, Alan   Neurology  ClinicalTrials.gov Google Publications
    Department of Neurology Washington University School of Medicine, St. Louis, MO, United States.
    Physician  Highly Published  Clinical Trial  Case Reports 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 84/100
    Subjects: Adaptor Proteins, Signal Transducing; Muscular Atrophy; Muscular Dystrophies, Limb-Girdle; N-Acetylneuraminic Acid; Outcome Assessment, Health Care
    Categories: Diagnosis; Genetics; Drug Therapy; Pathology; Pharmacology
    SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. (2015)
    Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study. (2016)

  7. Mozaffar, Tahseen   Neurology  Google Publications
    University of California Irvine, Orange, CA, USA.
    Physician  Clinical Trial 
    Disclosed payments in 2021 from 34 biomedical companies, totalling $48,727.51, including $20,895 from  GENZYME CORPORATION
    Subjects: Muscle Strength; Muscle, Skeletal; N-Acetylneuraminic Acid
    Categories: Drug Effects; Drug Therapy; Physiopathology; Therapeutic Use
    A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy. (2019)
    Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy. (2021)

  8. Bucelli, Robert C   Neurology  Google Publications
    Department of Neurology, Hope Center for Neurological Diseases, Washington University School of Medicine, St. Louis, Missouri, USA.
    Physician  Case Reports 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 84/100
    Subjects: Adaptor Proteins, Signal Transducing; Amyotrophic Lateral Sclerosis; Frontotemporal Dementia; Osteitis Deformans; Sequestosome-1 Protein
    Categories: Genetics; Pathology
    TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations. (2018)
    SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. (2015)

  9. Martin, Paul T   Emergency Medical Services  Google Publications
    Center for Gene Therapy, Abigail Wexner Research Institute Childrens Drive Columbus, OH, USA.
    Physician 
    Subjects: Antibodies; Dependovirus; Diet Therapy; Genetic Therapy; Multienzyme Complexes
    Categories: Blood; Metabolism; Genetics; Immunology; Therapy
    Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy. (2017)
    Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches. (2022)

  10. Mendell, Jerry R   Neurology  Google Publications
    The Abigail Wexner Research Institute at Nationwide Childrens Hospital, Columbus, OH United States.
    Physician  Case Reports 
    Disclosed payments in 2021 from 40 biomedical companies, totalling $28,489.21, including $14,839.05 from  Novartis Gene Therapies, Inc. (fka AveXis, Inc.)
    Subjects: Multienzyme Complexes; Muscular Atrophy; Muscular Dystrophies, Limb-Girdle; Mutation
    Categories: Diagnosis; Genetics; Enzymology
    Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent. (2010)
    Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease. (2021)

  11. Sorenson, Eric J   Neurology  Google Publications
    Department of Neurology, Mayo Clinic, Rochester, MN, USA. Top Hospital
    Physician  Case Reports 
    Medical school: Mayo Medical School (MD, 1991)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 79.7/100
    Subjects: Actins; Muscle, Skeletal; Mutation; Myositis, Inclusion Body
    Categories: Genetics; Diagnosis; Physiopathology
    Autosomal dominant distal myopathy due to a novel ACTA1 mutation. (2017)
    Clinical and Electrophysiological Findings in Hereditary Inclusion Body Myopathy Compared With Sporadic Inclusion Body Myositis. (2016)

  12. Udd, Bjarne A   Google Publications
    Folkhälsan Research Center, Helsinki, Finland.
    Scientist  Highly Cited  Highly Published  Case Reports 
    Subjects: Mutation; Connectin; Muscle Proteins; Adaptor Proteins, Signal Transducing; Cardiac Myosins
    Categories: Genetics; Pathology; Metabolism; Diagnosis; Chemistry; Methods
    Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. (2016)
    Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. (2013)

  13. Taylor, J Paul   Ophthalmology   Google Publications
    Department of Cell and Molecular Biology, St. Jude Childrens Research Hospital, Memphis, Tennessee, USA.
    Physician 
    Subjects: Adaptor Proteins, Signal Transducing; Amyotrophic Lateral Sclerosis; Frontotemporal Dementia; Osteitis Deformans; Sequestosome-1 Protein
    Categories: Genetics; Pathology
    TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations. (2018)
    Multisystem proteinopathy: intersecting genetics in muscle, bone, and brain degeneration. (2015)

  14. Hackman, Peter  Google Publications
    Folkhälsan Research Center, Helsinki, Finland.
    Scientist  Highly Cited  Highly Published  Case Reports 
    Subjects: Mutation; Muscle Proteins; Connectin; HSP40 Heat-Shock Proteins; Molecular Chaperones
    Categories: Genetics; Pathology; Diagnosis; Methods; Diagnostic Imaging; Ethnology
    Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. (2016)
    Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. (2013)

  15. Nishino, Ischizo  Google Publications
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Tokyo, Japan.
    Scientist  Highly Cited  Highly Published  Case Reports 
    Subjects: Multienzyme Complexes; Mutation; N-Acetylneuraminic Acid; Muscle, Skeletal; Hexosamines
    Categories: Genetics; Pathology; Metabolism; Drug Therapy; Administration & Dosage; Physiopathology
    GNE myopathy: current update and future therapy. (2015)
    GNE myopathy: new name and new mutation nomenclature. (2014)

  16. Crowe, Kelly E   Emergency Medicine  Google Publications
    Department of Biology, Mount St. Joseph University Cincinnati, OH, USA.
    Physician 
    Disclosed payments in 2021 from 11 biomedical companies, totalling $184.16, including $64.82 from  AbbVie Inc.
    Subjects: Antibodies; Dependovirus; Diet Therapy; Genetic Therapy; Multienzyme Complexes
    Categories: Blood; Metabolism; Genetics; Immunology; Therapy
    Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy. (2017)
    Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches. (2022)

  17. Zygmunt, Deborah A   Internal Medicine  Google Publications
    Center for Gene Therapy, Abigail Wexner Research Institute Childrens Drive Columbus, OH, USA.
    Physician 
    Subjects: Antibodies; Dependovirus; Diet Therapy; Genetic Therapy; Multienzyme Complexes
    Categories: Blood; Metabolism; Genetics; Immunology; Therapy
    Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy. (2017)
    Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches. (2022)

  18. Bedrosian, Camille L   Internal Medicine   Google Publications
    Ultragenyx Pharmaceutical Inc., Novato, CA, USA.
    Physician  Clinical Trial 
    Subjects: N-Acetylneuraminic Acid
    Categories: Physiopathology
    Clinical trial data available for UX001, aceneuramic acid extended-release. (2020)
    Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy. (2021)

  19. Jonson, Per Harald  Google Publications
    Folkhälsan Research Center, Helsinki, Finland.
    Scientist  Highly Cited  Highly Published  Case Reports 
    Subjects: Connectin; Mutation; HSP40 Heat-Shock Proteins; Molecular Chaperones; Muscle Proteins
    Categories: Genetics; Metabolism; Chemistry; Diagnosis; Methods; Pathology
    Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. (2016)
    Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. (2013)

  20. Palmio, Johanna   Google Publications
    Neuromuscular Research Center, Tampere University Hospital and Tampere University, P.O. box 100, FIN-33014 Tampere, Finland. Electronic address: .
    Scientist  Highly Cited  Highly Published  Case Reports 
    Subjects: Mutation; Connectin; HSP40 Heat-Shock Proteins; Molecular Chaperones; Nerve Tissue Proteins
    Categories: Genetics; Pathology; Diagnosis; Methods; Diagnostic Imaging; Epidemiology
    Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. (2016)
    TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations. (2018)

Note:
  1. These experts have limited publications on this topic in our database, so expertise assessment may not be accurate.
  2. Only the top 20 experts are shown. You may filter your results or use the geolocation tabs. Contact us to purchase the entire list.
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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