Faculty. Center for Genetic Muscle Disorders, Kennedy Krieger Institute

Neurology

Doctor Diana Escolar, MD is an expert in the field of Neurology. Diana Escolar is also a published physician. She has 34 publication published. The most recent publication is: Pediatric radial mononeuropathies: a clinical and electromyographic study of sixteen children with review of the literature.

Publications

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• "Watching time tick by…": Decision making for Duchenne Muscular dystrophy trials.
• Electrical impedance myography in duchenne Muscular dystrophy and healthy controls: A multi-center study of reliability and validity.
• The cooperative international neuroMuscular research group duchenne natural history study-a longitudinal investigation in the era of glucocorticoid therapy: Design of ...
• The cooperative international neuroMuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional mileston...
• Arginine butyrate: a therapeutic candidate for Duchenne Muscular dystrophy.
• Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE.
• Pediatric radial mononeuropathies: a clinical and electromyographic study of sixteen children with review of the literature.
• Pediatric sciatic neuropathies: a 30-year prospective study.
• The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody di...
• Pharmacologic and genetic therapy for childhood Muscular dystrophies.
• PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.
• Clinical evaluator reliability for quantitative and manual muscle testing measures of strength in children.
• Severe autosomal recessive rippling muscle disease.
• Randomized, blinded trial of weekend vs daily prednisone in Duchenne Muscular dystrophy.
• Gentamicin treatment of Duchenne and Becker Muscular dystrophy due to nonsense mutations.
• Collaborative translational research leading to multicenter clinical trials in Duchenne Muscular dystrophy: the Cooperative International NeuroMuscular Research Group ...
• Worsening of multifocal motor neuropathy during pregnancy.
• CINRG pilot trial of coenzyme Q10 in steroid-treated Duchenne Muscular dystrophy.
• Liquid formulation of pentoxifylline is a poorly tolerated treatment for duchenne dystrophy.
• Novel LMNA mutations in patients with Emery-Dreifuss Muscular dystrophy and functional characterization of four LMNA mutations.
• Functional and molecular effects of arginine butyrate and prednisone on muscle and heart in the mdx mouse model of Duchenne Muscular Dystrophy.
• A randomized study of alglucosidase alfa in late-onset Pompe's disease.
• Clinical features of late-onset Pompe disease: a prospective cohort study.
• A phase I/IItrial of MYO-029 in adult subjects with Muscular dystrophy.
• CINRG pilot trial of oxatomide in steroid-naïve Duchenne Muscular dystrophy.
• Challenges in drug development for muscle disease: a stakeholders' meeting.
• Fukutin gene mutations in steroid-responsive limb girdle Muscular dystrophy.
• Reliable surrogate outcome measures in multicenter clinical trials of Duchenne Muscular dystrophy.
• Translating mighty mice into neuroMuscular therapeutics: is bigger muscle better?
• Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration.
• Update on diagnosis and treatment of hereditary and acquired polyneuropathies in childhood.
• CINRG randomized controlled trial of creatine and glutamine in Duchenne Muscular dystrophy.
• Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile Ataxia to 20q11-q13.

Schools

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• University of Buenos Aires Faculty of Medicine

• Waltham Weston Hospital

• Boston University

• Lahey Clin Chldns Hospital

Conditions Treated

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• Ataxia
• Peripheral Nerve Disorders
• Spinal Muscular Atrophy (SMA)

Doctors Specialties

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• Clinical Neurophysiology
• Neurology

Accepted Insurances

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Education

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• Boston Children's Hospital
• Boston University Medical Center
• University of Buenos Aires

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