Find Expert Doctors on Pelizaeus-Merzbacher Disease249 top medical experts on Pelizaeus-Merzbacher Disease across 31 countries and 21 U.S. states, including 69 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Pelizaeus-Merzbacher Disease: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include tremor, spasmus nutans, roving eye movements, ataxia, spasticity, and nystagmus, congenital. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Broader Categories (#Experts): Hereditary Central Nervous System Demyelinating Diseases (1,644), X-Linked Genetic Diseases (2,304).
- Clinical Trials
: at least 4 including 2 Completed, 2 Recruiting - Synonyms: Cockayne-Pelizaeus-Merzbacher Disease
- Rowitch, David H Pediatrics
Departments of Pediatrics and Neurosurgery, UCSF School of Medicine and Broad Center for Regenerative Medicine, San Francisco, California, USA.Disclosed payments from biomedical company (BioMarin Pharmaceutical Inc.) in 2021 for $80.14Subjects: Brain; Neural Stem Cells; Deferiprone; Induced Pluripotent Stem Cells; IronCategories: Metabolism; Therapy; Physiology; Cytology; Therapeutic Use; Diagnostic Imaging - Lupski, James R Pediatrics Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Top HospitalRelevant US NIH Grant Funding: $554,999 over the last 5 yearsSubjects: DNA Copy Number Variations; 46, XX Testicular Disorders of Sex Development; Chromosomes, Human, Pair 22; Chromosomes, Human, X; Comparative Genomic HybridizationCategories: Genetics; Chemistry; Methods; Physiology
- Gupta, Nalin Neurological Surgery Department of Neurological Surgery, University of California San Francisco, 550 16th Street, 4th Floor, San Francisco, CA 94143-0137, USA; Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143, USA. Electronic address: . Top HospitalPhysician Clinical TrialSubjects: Brain; Neural Stem Cells; Myelin SheathCategories: Metabolism; Therapy; Cytology; Diagnostic Imaging; Pathology; Physiology
- Huhn, Stephen L Neurological Surgery StemCells Inc., Newark, CA 94560, USA.Physician Clinical TrialSubjects: Brain; Neural Stem Cells; Myelin SheathCategories: Metabolism; Therapy; Cytology; Diagnostic Imaging; Pathology; Physiology
- Duncan, Ian D Orthopaedic Surgery Department of Medical Sciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA. Electronic address: .Physician Highly PublishedDisclosed payments in 2021 from 18 biomedical companies, totalling $430.09, including $133.84 from Pacira Therapeutics, Inc.Subjects: Myelin Sheath; Brain; Brain Mapping; Disease Models, Animal; Disease ProgressionCategories: Genetics; Pathology; Methods; Physiopathology
- Tesar, Paul J Orthopaedic Surgery Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA. . Top HospitalPhysician Highly PublishedRelevant US NIH Grant Funding: $1,081,259 over the last 5 yearsSubjects: Disease Models, Animal; Myelin Proteolipid Protein; Oligodendrocyte Precursor Cells; Oligodendroglia; Stem Cell TransplantationCategories: Pathology; Genetics; Therapy; Cytology; Deficiency
- Lim, Daniel A Neurological Surgery Department of Neurological Surgery, University of California San Francisco, 550 16th Street, 4th Floor, San Francisco, CA 94143-0137, USA. Top HospitalPhysician Clinical TrialSubjects: Brain; Neural Stem Cells; Myelin SheathCategories: Metabolism; Therapy; Cytology; Diagnostic Imaging; Pathology; Physiology
- Stanley, Jeffrey A Vascular Surgery PhysicianMedical school: Ohio University, College of Osteopathic Medicine (DO, 1992)Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 96/100Disclosed payments in 2021 from 16 biomedical companies, totalling $577.1, including $146.84 from Cardiovascular Systems Inc.Subjects: Brain; Diffusion Tensor Imaging; Disabled Persons; Mutation; Myelin Proteolipid ProteinCategories: Genetics; Pathology; Complications; Etiology
- Elitt, Matthew S Ophthalmology Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA. Top HospitalPhysicianSubjects: Disease Models, Animal; Myelin Proteolipid Protein; Oligodendrocyte Precursor CellsCategories: Pathology; Deficiency; Genetics; Therapy
- Saher, Gesine Department of Neurogenetics, Max-Planck-Institute of Experimental Medicine, Hermann-Rein-Str. 3, 37075, Göttingen, Germany. .Scientist Highly PublishedSubjects: Cholesterol, Dietary; Cholesterol; Demyelinating Diseases; Feeding Behavior; Myelin Proteolipid ProteinCategories: Metabolism; Pathology; Administration & Dosage; Diet Therapy; Physiology; Therapeutic Use
- Nave, Klaus-Armin Max Planck Institute for Experimental Medicine, D-37075 Goettingen, Germany.Subjects: Cholesterol, Dietary; Demyelinating Diseases; Myelin Proteolipid Protein; Myelin Sheath; Axonal TransportCategories: Pathology; Genetics; Metabolism; Physiology; Therapeutic Use; Administration & Dosage
- Allan, Kevin C Emergency Medicine Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA. Top HospitalPhysicianSubjects: Disease Models, Animal; Myelin Proteolipid Protein; Oligodendrocyte Precursor CellsCategories: Pathology; Deficiency; Genetics; Therapy
- Nobuta, Hiroko Department of Pediatrics, Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94143, USA. Top HospitalScientistSubjects: Deferiprone; Induced Pluripotent Stem Cells; Iron; Iron Chelating Agents; Myelin Proteolipid Protein; OligodendrogliaCategories: Metabolism; Physiology; Therapeutic Use; Therapy
- Mayer, Joshua A Internal Medicine Department of Medical Sciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA.PhysicianSubjects: Myelin Sheath; Disease Models, Animal; Disease Progression; Genetic Predisposition to Disease; Myelin Proteolipid ProteinCategories: Genetics; Pathology; Physiopathology
- Wood, Paul L Psychiatry Dept, of Pharmacology, DeBusk College of Osteopathic Medicine, Lincoln Memorial University, 6965 Cumberland Gap Parkway, Harrogate, TN 37752, USA.PhysicianSubjects: Plasmalogens; Chondrodysplasia Punctata, Rhizomelic; Diglycerides; Heat-Shock Proteins; InositolCategories: Metabolism; Genetics; Drug Effects; Pharmacology
- Kurtzberg, Joanne Pediatric Hematology-Oncology Pediatric Blood and Marrow Transplant Program.Physician Case ReportsMedical school: New York Medical College (MD, 1976)Medicare AcceptedDisclosed payments in 2021 from 6 biomedical companies, totalling $5,500, including $4,500 from Merck Sharp & Dohme CorporationSubjects: Cord Blood Stem Cell TransplantationCategories: Diagnosis; Methods; Therapy
- Perry, Rachel Family Medicine Fetal Treatment Center, University of California San Francisco, San Francisco, CA 94143, USA. Top HospitalPhysician Clinical TrialSubjects: Brain; Neural Stem Cells; Myelin SheathCategories: Metabolism; Therapy; Cytology; Diagnostic Imaging; Pathology; Physiology
- Barrette, Benoit ScientistSubjects: Cholesterol, Dietary; Feeding BehaviorCategories: Administration & Dosage; Diet Therapy; Therapeutic Use
- Corthals, Kristina ScientistSubjects: Cholesterol, Dietary; Feeding BehaviorCategories: Administration & Dosage; Diet Therapy; Therapeutic Use
- Dibaj, Payam ScientistSubjects: Cholesterol, Dietary; Feeding BehaviorCategories: Administration & Dosage; Diet Therapy; Therapeutic Use
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