357 top medical experts on Neuronal Ceroid-Lipofuscinoses across 32 countries and 28 U.S. states, including 229 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Neuronal Ceroid-Lipofuscinoses: A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (ceroid; lipofuscin) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive dementia; seizures; and visual failure.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Lipidoses (578), Nervous System Heredodegenerative Disorders (865).
  4. Clinical Trials ClinicalTrials.gov : at least 40 including 4 Active, 15 Completed, 12 Recruiting
  5. Synonyms: Batten Disease,  Autosomal Dominant 4B Neuronal Ceroid Lipofuscinosis,  Neuronal Ceroid-Lipofuscinosis,  Jansky-Bielschowsky Disease,  Kufs Disease,  Santavuori-Haltia Disease,  Spielmeyer-Vogt Disease


  

        

                    


    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, screen scraping or using the data) to identify the top medical experts for recruiting, advisory panels, boards, and consulting. Please contact us for licensing, customized queries, feedback and questions.

  1. Cooper, Jonathan D   Otolaryngology   Google Publications
    Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St Louis, School of Medicine, 660 S Euclid Ave, St Louis, MO, 63110, USA. .
    Physician  Highly Cited  Highly Published 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 100/100
    Disclosed payments in 2021 from 2 biomedical companies, totalling $528.33, including $442.48 from  CIPLA USA INC.
    Subjects: Membrane Proteins; Thiolester Hydrolases; Neurons; Disease Models, Animal; Enzyme Replacement Therapy
    Categories: Pathology; Genetics; Metabolism; Therapy; Drug Therapy; Deficiency
    Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. (2019)
    Pathomechanisms in the neuronal ceroid lipofuscinoses. (2020)

  2. Crystal, Ronald G   Pulmonary Disease  ClinicalTrials.gov Google Publications
    Department of Genetic Medicine, Weill Cornell Medical College, New York, New York.
    Physician  Highly Cited  Highly Published  Clinical Trial 
    Medical school: Perelman School of Med at the University of Pennsylvania (MD, 1968)
    Medicare Accepted
    Disclosed payments in 2021 from 8 biomedical companies, totalling $45,730, including $35,000 from  BioMarin Pharmaceutical Inc.
    Subjects: Brain; Aminopeptidases; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; Serine Proteases; Dependovirus
    Categories: Genetics; Pathology; Metabolism; Etiology; Physiopathology; Surgery
    Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study. (2018)
    Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway. (2014)

  3. Staropoli, John F   Anatomic Pathology & Clinical Pathology   Google Publications
    Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA. Top Hospital
    Physician  Highly Cited  Highly Published  Case Reports 
    Subjects: Mutation; Membrane Proteins; HSP40 Heat-Shock Proteins; Membrane Glycoproteins; Molecular Chaperones
    Categories: Genetics; Metabolism; Pathology; Physiology; Diagnosis; Classification
    Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis. (2017)
    Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. (2011)

  4. Sims, Katherine B   Neurology  Google Publications
    Neurogenetics DNA Diagnostic Laboratory, Department of Neurology, Massachusetts General Hospital, Harvard Medical School , Boston, Massachusetts 02115, United States. Top Hospital
    Physician  Highly Cited  Highly Published  Case Reports 
    Subjects: Mutation; Membrane Proteins; Aminopeptidases; Brain; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
    Categories: Genetics; Diagnosis; Metabolism; Pathology; Classification; Enzymology
    Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. (2011)
    Management Strategies for CLN2 Disease. (2017)

  5. Mukherjee, Anil B   Internal Medicine   ClinicalTrials.gov Google Publications
    Section on Developmental Genetics, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, The National Institutes of Health, Bethesda, Maryland, USA.
    Physician  Highly Cited  Highly Published  Clinical Trial 
    Subjects: Thiolester Hydrolases; Lysosomes; Adipose Tissue, Brown; Brain; Magnetic Resonance Imaging
    Categories: Metabolism; Genetics; Pathology; Deficiency; Diagnosis; Drug Therapy
    Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses. (2019)
    Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study. (2014)

  6. Yohay, Kaleb   Pediatrics  Google Publications
    Department of Genetic Medicine, Weill Cornell Medical College, New York, NY, USA; Department of Neurology, New York University, Langone Medical Center, New York, NY, USA.
    Physician  Highly Cited  Highly Published  Clinical Trial 
    Medical school: University of Vermont College of Medicine (MD, 1997)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 86/100
    Disclosed payments from biomedical company (AstraZeneca Pharmaceuticals LP) in 2021 for $27.86
    Subjects: Brain; Eye Diseases; Aminopeptidases; Dependovirus; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
    Categories: Pathology; Genetics; Physiopathology; Complications; Diagnosis; Etiology
    Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study. (2018)
    Long-term expression and safety of administration of AAVrh.10hCLN2 to the brain of rats and nonhuman primates for the treatment of late infantile neuronal ceroid lipofuscinosis. (2012)

  7. Souweidane, Mark M   Neurological Surgery   Google Publications
    Department of Neurological Surgery, Weill Cornell Medical College, Cornell University, New York, New York 10021, USA.
    Physician  Clinical Trial 
    Medical school: Wayne State University School of Medicine (MD, 1988)
    Medicare Accepted
    Subjects: Brain; Eye Diseases; Aminopeptidases; Dependovirus; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
    Categories: Genetics; Pathology; Physiopathology; Surgery; Complications; Etiology
    Long-term expression and safety of administration of AAVrh.10hCLN2 to the brain of rats and nonhuman primates for the treatment of late infantile neuronal ceroid lipofuscinosis. (2012)
    Gene therapy for late infantile neuronal ceroid lipofuscinosis: neurosurgical considerations. (2010)

  8. Hofmann, Sandra L   Hematology & Oncology   Google Publications
    Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390-8593, USA; Hamon Center for Therapeutic Oncology Research, University of Texas Southwestern Medical Center, Dallas, TX 75390-8593, USA. Electronic address: . Top Hospital
    Physician  Case Reports 
    Subjects: Thiolester Hydrolases; Dog Diseases; Enzyme Replacement Therapy; Disease Models, Animal; Membrane Proteins
    Categories: Administration & Dosage; Genetics; Drug Therapy; Enzymology; Mortality; Therapeutic Use
    A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund. (2010)
    Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis. (2015)

  9. Drack, Arlene V   Ophthalmology  Google Publications
    Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, IA. Top Hospital
    Physician  Case Reports 
    Medical school: Other (MD, 1986)
    Medicare Accepted
    Subjects: Membrane Glycoproteins; Molecular Chaperones; Phosphodiesterase 4 Inhibitors; Retinal Degeneration; Cataract
    Categories: Genetics; Drug Therapy; Etiology; Therapeutic Use; Therapy; Analogs & Derivatives
    Efficacy of phosphodiesterase-4 inhibitors in juvenile Batten disease (CLN3). (2016)
    Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal Degeneration. (2016)

  10. Geraets, Ryan D   Ophthalmology  Google Publications
    Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, United States of America.
    Physician 
    Disclosed payments in 2021 from 5 biomedical companies, totalling $493.52, including $440.96 from  Alimera Sciences, Inc.
    Subjects: Biological Variation, Population; Blood Proteins; Membrane Glycoproteins; Molecular Chaperones
    Categories: Genetics; Analysis; Blood; Diagnosis; Metabolism
    Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis. (2016)
    A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies. (2017)

  11. Stone, Edwin M   Ophthalmology  Google Publications
    Department of Ophthalmology and Visual Sciences, The University of Iowa, Iowa City, Iowa, USA. Top Hospital
    Physician  Case Reports 
    Subjects: Membrane Glycoproteins; Molecular Chaperones; Choroid; Fluorescein Angiography; Genetic Therapy
    Categories: Genetics; Complications; Methods; Therapy; Blood Supply; Pathology
    Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal Degeneration. (2016)
    An Unusual Presentation of CLN3-Associated Batten Disease With Classic Histopathologic and Ultrastructural Findings. (2021)

  12. Marshall, Frederick J   Neurology   Google Publications
    University of Rochester, Department of Neurology Child Neurology, Box 631, 601 Elmwood Avenue, Rochester, NY 14642, USA; University of Rochester, Clinical Trials Coordination Center, 265 Crittenden Boulevard, Rochester, NY 14620, USA. Electronic address: .
    Physician  Highly Cited  Highly Published 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 72/100
    Subjects: Aminopyridines; Parents; Biomedical Research; Clinical Trials as Topic; Genetic Testing
    Categories: Diagnosis; Genetics; Physiopathology; Methods; Psychology; Therapy
    Classification and natural history of the neuronal ceroid lipofuscinoses. (2013)
    The CLN3 Disease Staging System: A new tool for clinical research in Batten disease. (2020)

  13. Pearce, David A   Orthopaedic Surgery   Google Publications
    Pediatrics and Rare Diseases Group, Sanford Research, 2301 E. 60th Street N., Sioux Falls, SD, 57014, USA.
    Physician  Highly Cited  Highly Published  Case Reports 
    Medical school: Georgetown University School of Medicine (MD, 1995)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 57/100
    Disclosed payments in 2021 from 5 biomedical companies, totalling $451.07, including $160.72 from  Onkos Surgical, Inc.
    Subjects: Membrane Glycoproteins; Molecular Chaperones; Disease Models, Animal; Membrane Proteins; Aminopeptidases
    Categories: Genetics; Metabolism; Immunology; Pathology; Blood; Physiopathology
    Therapeutic landscape for Batten disease: current treatments and future prospects. (2019)
    Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. (2016)

  14. Wang, Raymond Y   Pediatrics  Google Publications
    CHOC Childrens Specialists, Orange, CA, USA.
    Physician 
    Disclosed payments in 2021 from 3 biomedical companies, totalling $5,850, including $2,400 from  Takeda Pharmaceuticals U.S.A., Inc.
    Subjects: Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; Recombinant Proteins; Aminopeptidases; Infusion Pumps; Infusions, Intraventricular
    Categories: Deficiency; Administration & Dosage; Drug Therapy; Standards; Therapeutic Use
    Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics. (2020)
    Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series. (2021)

  15. Mole, Sara E   Google Publications
    MRC Laboratory for Molecular Biology and GOS Institute of Child Health, University College London, London, UK.
    Scientist  Highly Cited  Highly Published  Case Reports 
    Subjects: Membrane Proteins; Mutation; Genetic Predisposition to Disease; Genetic Therapy; Membrane Glycoproteins
    Categories: Genetics; Metabolism; Therapy; Pathology; Blood; Diagnosis
    Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. (2019)
    Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. (2012)

  16. Orlin, Anton   Surgery  Google Publications
    Department of Ophthalmology, Retina Service, Weill Cornell Medical College, New York, New York.
    Physician  Clinical Trial 
    Disclosed payments from biomedical company (EyePoint Pharmaceuticals US, Inc.) in 2021 for $1,620
    Subjects: Eye Diseases; Aminopeptidases; DNA; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; Macular Degeneration
    Categories: Genetics; Pathology; Etiology; Physiopathology; Complications
    Symmetric Age Association of Retinal Degeneration in Patients with CLN2-Associated Batten Disease. (2020)
    Spectrum of ocular manifestations in CLN2-associated batten (Jansky-Bielschowsky) disease correlate with advancing age and deteriorating neurological function. (2013)

  17. Schulz, Angela   ClinicalTrials.gov Google Publications
    Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
    Scientist  Highly Cited  Highly Published  Clinical Trial  Case Reports 
    Subjects: Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; Aminopeptidases; Enzyme Replacement Therapy; Recombinant Proteins; Serine Proteases
    Categories: Genetics; Therapeutic Use; Blood; Methods; Drug Therapy; Therapy
    Study of Intraventricular Cerliponase Alfa for CLN2 Disease. (2018)
    Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. (2019)

  18. Kwon, Jennifer M   Neurology   Google Publications
    University of Rochester, Department of Neurology Child Neurology, Box 631, 601 Elmwood Avenue, Rochester, NY 14642, USA. Electronic address: .
    Physician  Highly Cited  Highly Published 
    Disclosed payments in 2021 from 16 biomedical companies, totalling $8,326.62, including $8,326.62 from  Novartis Gene Therapies, Inc. (fka AveXis, Inc.)
    Subjects: Aminopyridines; Parents; Biomedical Research; Clinical Trials as Topic; Genetic Testing
    Categories: Diagnosis; Genetics; Methods; Physiopathology; Psychology; Therapy
    Classification and natural history of the neuronal ceroid lipofuscinoses. (2013)
    Females experience a more severe disease course in Batten disease. (2012)

  19. Velinov, Milen T   Pediatrics   Google Publications
    New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.
    Physician  Highly Published  Case Reports 
    Subjects: HSP40 Heat-Shock Proteins; Membrane Proteins; Mutation; Alzheimer Disease; Aminopeptidases
    Categories: Genetics; Metabolism; Blood; Diagnosis; Pathology; Therapy
    Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis. (2021)
    Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation. (2016)

  20. Johnson, Gary S   Family Medicine   Google Publications
    Department of Veterinary Pathobiology, University of Missouri, Columbia, MO, USA.
    Physician  Highly Cited  Highly Published  Case Reports 
    Disclosed payments from biomedical company (Novo Nordisk Inc) in 2021 for $20.01
    Subjects: Dog Diseases; Membrane Proteins; Codon, Nonsense; Membrane Transport Proteins; Brain
    Categories: Genetics; Veterinary; Enzymology; Pathology
    A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. (2011)
    A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. (2011)

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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