423 top medical experts on Rett Syndrome across 42 countries and 32 U.S. states, including 280 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Rett Syndrome: An inherited neurological developmental disorder that is associated with X-linked inheritance and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ataxia; seizures; autistic behavior; intermittent hyperventilation; and hyperammonemia appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): X-Linked Mental Retardation (2,803).
  4. Clinical Trials ClinicalTrials.gov : at least 65 including 2 Active, 38 Completed, 6 Recruiting
  5. Synonyms: Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome,  Cerebroatrophic Hyperammonemia


  

        

                    


    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. Neul, Jeffrey Lorenz   Pediatrics   ClinicalTrials.gov Google Publications
    Department of Pediatrics/Child Neurology, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN. Top Hospital
    Physician  Highly Cited  Highly Published  Clinical Trial  Case Reports 
    Relevant US NIH Grant Funding: $2,877,271 over the last 5 years
    Medicare MIPS (Merit-based Incentive Payment System) rating: 73.2/100
    Disclosed payments in 2021 from 8 biomedical companies, totalling $7,875, including $5,625 from  ACADIA Pharmaceuticals Inc
    Subjects: Methyl-CpG-Binding Protein 2; Mutation; Arrhythmias, Cardiac; Neurodevelopmental Disorders; Anti-Inflammatory Agents, Non-Steroidal
    Categories: Genetics; Physiopathology; Diagnosis; Physiology; Therapeutic Use; Complications
    Rett syndrome: revised diagnostic criteria and nomenclature. (2010)
    Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. (2010)

  2. Percy, Alan K   Pediatrics   ClinicalTrials.gov Google Publications
    Department of Pediatrics/Child Neurology, University of Alabama at Birmingham, Birmingham, AL. Electronic address: . Top Hospital
    Physician  Highly Cited  Highly Published  Clinical Trial 
    Relevant US NIH Grant Funding: $2,596,669 over the last 5 years
    Disclosed payments from biomedical company (ACADIA Pharmaceuticals Inc) in 2021 for $2,000
    Subjects: Methyl-CpG-Binding Protein 2; Mutation; Arrhythmias, Cardiac; Growth Disorders; Neurodevelopmental Disorders
    Categories: Genetics; Physiopathology; Diagnosis; Complications; Therapy; Epidemiology
    Rett syndrome: revised diagnostic criteria and nomenclature. (2010)
    Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. (2014)

  3. Zoghbi, Huda Yahya   Pediatrics   Google Publications
    Jan and Dan Duncan Neurological Research Institute, Texas Childrens Hospital, Houston, TX, USA. .
    Physician  Highly Cited  Highly Published  Case Reports 
    Relevant US NIH Grant Funding: $2,189,376 over the last 5 years
    Disclosed payments in 2021 from 6 biomedical companies, totalling $710,094.33, including $710,094.33 from  Regeneron Pharmaceuticals, Inc.
    Subjects: Methyl-CpG-Binding Protein 2; Neurons; Mental Retardation, X-Linked; Mutation; Deep Brain Stimulation
    Categories: Genetics; Metabolism; Physiology; Physiopathology; Chemistry; Pathology
    Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. (2010)
    Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome. (2021)

  4. Glaze, Daniel G   Pediatrics   ClinicalTrials.gov Google Publications
    Department of Pediatrics/Child Neurology, Baylor College of Medicine, Houston, TX. Top Hospital
    Physician  Highly Cited  Highly Published  Clinical Trial  Case Reports 
    Subjects: Methyl-CpG-Binding Protein 2; Mutation; Arrhythmias, Cardiac; Growth Disorders; Anti-Inflammatory Agents, Non-Steroidal
    Categories: Genetics; Physiopathology; Complications; Therapeutic Use; Diagnosis; Epidemiology
    Rett syndrome: revised diagnostic criteria and nomenclature. (2010)
    Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. (2014)

  5. Bissonnette, John M   Obstetrics & Gynecology   Google Publications
    Department of Obstetrics and Gynecology, Oregon Health and Science University, Portland, OR, 97239, USA.
    Physician  Highly Cited  Highly Published 
    Subjects: Methyl-CpG-Binding Protein 2; Respiration; Mutation; Serotonin 5-HT1 Receptor Agonists; Apnea
    Categories: Genetics; Metabolism; Physiopathology; Drug Effects; Drug Therapy; Pharmacology
    A role for glia in the progression of Rett's syndrome. (2011)
    Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome. (2013)

  6. Marsh, Eric D   Pediatrics  ClinicalTrials.gov Google Publications
    Department of Pediatrics/Child Neurology, Childrens Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA. Top Hospital
    Physician  Clinical Trial 
    Relevant US NIH Grant Funding: $1,993,366 over the last 5 years
    Subjects: Brain Diseases; Methyl-CpG-Binding Protein 2; Neurodevelopmental Disorders; Evoked Potentials; Neuropsychological Tests
    Categories: Diagnosis; Physiopathology; Standards; Genetics; Physiology; Therapy
    Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study. (2020)
    The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2. (2019)

  7. Sahin, Mustafa   Neurology  ClinicalTrials.gov Google Publications
    Department of Neurology, Boston Childrens Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts. Top Hospital
    Physician  Clinical Trial 
    Relevant US NIH Grant Funding: $25,000 over the last 5 years
    Disclosed payments from biomedical company (Alkermes, Inc.) in 2021 for $2,000
    Subjects: Stereotypic Movement Disorder; Behavior; Cognition; Genetic Predisposition to Disease; Hand
    Categories: Genetics; Complications; Diagnosis; Etiology; Methods; Physiopathology
    Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. (2017)
    Translational research: Rett syndrome and tuberous sclerosis complex. (2011)

  8. Naidu, Sakkubai R   Neurology   ClinicalTrials.gov Google Publications
    Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland.
    Physician  Highly Published  Clinical Trial 
    Subjects: Methyl-CpG-Binding Protein 2; Bone Density; Brain; Brain Waves; Death, Sudden, Cardiac
    Categories: Genetics; Metabolism; Pathology; Physiology; Complications; Physiopathology
    Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation. (2010)
    Rett syndrome and epilepsy: an update for child neurologists. (2013)

  9. Johnston, Michael V   Neurology   Google Publications
    Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; The Hugo W. Moser Research Institute at Kennedy Krieger, Inc., Baltimore, MD 21205, USA. Top Hospital
    Physician  Clinical Trial 
    Subjects: Brain; Acetylcysteine; Brain Waves; Dendrimers; Dextromethorphan
    Categories: Therapeutic Use; Physiopathology; Biosynthesis; Drug Therapy; Genetics; Physiology
    Changing the perspective on early development of Rett syndrome. (2013)
    Dendrimer-mediated delivery of N-acetyl cysteine to microglia in a mouse model of Rett syndrome. (2017)

  10. Lane, Jane B   Pediatrics  Google Publications
    Department of Pediatrics/Child Neurology, University of Alabama at Birmingham, Birmingham, AL. Top Hospital
    Physician  Highly Cited  Highly Published  Clinical Trial 
    Disclosed payments from biomedical company (Biohaven Pharmaceuticals, Inc.) in 2021 for $29.57
    Subjects: Methyl-CpG-Binding Protein 2; Growth Disorders; Mutation; Neurodevelopmental Disorders; Brain Diseases
    Categories: Genetics; Physiopathology; Diagnosis; Complications; Epidemiology; Psychology
    Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. (2014)
    Epilepsy and the natural history of Rett syndrome. (2010)

  11. Benke, Timothy A   Neurodevelopmental Disabilities  Google Publications
    Department of Pediatrics, Neurology, Pharmacology and Otolaryngology, University of Colorado School of Medicine and Childrens Hospital Colorado, Aurora, CO.
    Physician 
    Relevant US NIH Grant Funding: $1,993,366 over the last 5 years
    Medical school: Baylor College of Medicine (MD, 1995)
    Medicare Accepted
    Disclosed payments from biomedical company (ACADIA Pharmaceuticals Inc) in 2021 for $2,000
    Subjects: Methyl-CpG-Binding Protein 2; Evoked Potentials; Neuropsychological Tests; Outcome Assessment, Health Care; Psychometrics
    Categories: Standards; Genetics; Diagnosis; Physiology; Physiopathology; Therapy
    The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2. (2019)
    A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials. (2020)

  12. Suter, Bernhard   Pediatrics  Google Publications
    Blue Bird Circle Rett Center, Texas Childrens Hospital, Houston, TX, USA.
    Physician  Clinical Trial  Case Reports 
    Subjects: Methyl-CpG-Binding Protein 2; Mutation; Nuclear Proteins; Receptors, Cytoplasmic and Nuclear; Repressor Proteins
    Categories: Genetics; Diagnosis; Pathology; Physiology; Therapy
    The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2. (2019)
    Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale. (2015)

  13. Shapiro, Jay R   Internal Medicine   Google Publications
    Hugo W. Moser Research Institute at Kennedy Krieger, Inc., 707 North Broadway, Baltimore, MD 21205, USA.
    Physician 
    Subjects: Osteoporosis; Bone Density; Bone and Bones; Diphosphonates; Disease Models, Animal
    Categories: Pathology; Genetics; Therapeutic Use; Complications; Diagnosis; Drug Therapy
    Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence. (2016)
    Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations. (2010)

  14. Beisang, Arthur A   Pediatrics  Google Publications
    Department of Pediatrics, Gillette Childrens Hospital, St. Paul, MN.
    Physician  Highly Published  Clinical Trial 
    Subjects: Pain; Parents; Analgesics, Opioid; Autonomic Nervous System; Brain-Derived Neurotrophic Factor
    Categories: Physiopathology; Complications; Physiology; Therapeutic Use; Diagnosis; Drug Therapy
    A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome. (2017)
    Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale. (2015)

  15. Greenberg, Michael E   Emergency Medicine   Google Publications
    Department of Neurobiology, Harvard Medical School, Boston, MA, USA. . Top Hospital
    Physician  Highly Cited 
    Relevant US NIH Grant Funding: $1,702,508 over the last 5 years
    Subjects: Methyl-CpG-Binding Protein 2; DNA Methylation; Mutation; Brain; Gene Expression Regulation
    Categories: Genetics; Metabolism
    Disruption of DNA-methylation-dependent long gene repression in Rett syndrome. (2015)
    Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. (2013)

  16. Kaufmann, Walter E   Cardiovascular Disease   ClinicalTrials.gov Google Publications
    Department of Neurology, Boston Childrens Hospital, Boston, Massachusetts.
    Physician  Highly Cited  Highly Published  Clinical Trial 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 79/100
    Subjects: Methyl-CpG-Binding Protein 2; Mutation; Stereotypic Movement Disorder; Communication Disorders; Hand
    Categories: Genetics; Physiopathology; Diagnosis; Psychology; Physiology; Therapeutic Use
    Rett syndrome: revised diagnostic criteria and nomenclature. (2010)
    Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. (2014)

  17. Cronk, James C   Pediatrics   Google Publications
    Center for Brain Immunology and Glia, Department of Neuroscience, Graduate Program in Neuroscience and Medical Scientist Training Program, University of Virginia, Charlottesville, VA 22908, USA. Electronic address: . Top Hospital
    Physician  Highly Cited 
    Relevant US NIH Grant Funding: $43,083 over the last 5 years
    Subjects: Microglia; Methyl-CpG-Binding Protein 2; Brain; CpG Islands; Disease Progression
    Categories: Immunology; Physiology; Physiopathology; Cytology; Metabolism; Pathology
    Wild-type microglia arrest pathology in a mouse model of Rett syndrome. (2012)
    Methyl-CpG Binding Protein 2 Regulates Microglia and Macrophage Gene Expression in Response to Inflammatory Stimuli. (2015)

  18. Longo, Frank M   Neurology  Google Publications
    Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA. Top Hospital
    Physician 
    Medical school: University of California, San Diego School of Medicine (MD, 1981)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 65/100
    Subjects: Receptor, trkB; Benzamides; Disease Models, Animal; Apnea; Brain-Derived Neurotrophic Factor
    Categories: Metabolism; Physiopathology; Drug Effects; Pharmacology; Agonists; Drug Therapy
    A TrkB small molecule partial agonist rescues TrkB phosphorylation deficits and improves respiratory function in a mouse model of Rett syndrome. (2012)
    A small-molecule TrkB ligand restores hippocampal synaptic plasticity and object location memory in Rett syndrome mice. (2017)

  19. Wang, Wei   Internal Medicine  Google Publications
    Jan and Dan Duncan Neurological Research Institute, Texas Childrens Hospital, Houston, TX, USA.
    Physician  Highly Cited 
    Relevant US NIH Grant Funding: $1,277,415 over the last 5 years
    Disclosed payments in 2021 from 2 biomedical companies, totalling $40.84, including $40.84 from  Novo Nordisk Inc
    Subjects: Methyl-CpG-Binding Protein 2; GABAergic Neurons; Biomedical Enhancement; CA1 Region, Hippocampal; DNA (Cytosine-5-)-Methyltransferases
    Categories: Physiology; Metabolism; Physiopathology; Biosynthesis; Genetics; Methods
    Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome. (2021)
    Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome. (2016)

  20. Baker, Steven Andrew   Orthopaedic Surgery  Google Publications
    Program in Developmental Biology, the Jan and Dan Duncan Neurological Research Institute at Texas Childrens Hospital, Houston, Texas 77030 Medical Scientist Training Program.
    Physician 
    Disclosed payments in 2021 from 4 biomedical companies, totalling $83.04, including $48.4 from  Skeletal Dynamics Inc
    Subjects: Methyl-CpG-Binding Protein 2; Cell Nucleus; DNA Methylation; Gene Expression Regulation; Neurons
    Categories: Metabolism; Chemistry
    MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. (2015)
    An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders. (2013)

Note:
  1. 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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