Physician

Neurology

Lawrence Charnas is an expert in the field of Neurology. He went to Perelman School of Medicine at the University of Pennsylvania. Lawrence Charnas is a published doctor. He has 46 publications published. The most current publication "Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes."

Publications

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• Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
• Progressive brainstem compression in an infant with neurocutaneous melanosis and Dandy-Walker complex following ventriculoperitoneal shunt placement for hydrocephalus....
• Outcome of CNS and pulmonary enteroviral infections after hematopoietic cell transplantation.
• Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999.
• Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up report.
• Late occurrence of chronic immune-mediated axonal polyneuropathy following bone marrow transplant for juvenile-onset alpha-mannosidosis.
• Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes.
• Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.
• Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe.
• Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe.
• Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe.
• Communicating hydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta.
• Muscle carnitine repletion by long-term carnitine supplementation in nephropathic cystinosis.
• Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34.
• Distal vacuolar myopathy in nephropathic cystinosis.
• Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
• Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serum and amniotic fluid alpha-fetoprotein levels.
• Schwann cell proliferation and migration during paranodal demyelination.
• Pulmonary arteriovenous malformations: techniques and long-term outcome of embolotherapy.
• Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis.
• Neurologic injuries in boxers.
• Congenital absence of peripheral myelin: abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita.
• MRI findings and peripheral neuropathy in Lowe''s syndrome.
• Electrophoretic examination of proteinuria in Lowe's syndrome and other causes of renal tubular Fanconi syndrome.
• Neurological injuries in boxers: the use of tests.
• Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function.
• Central nervous system involvement in Von Hippel-Lindau disease.
• The oculocerebrorenal syndrome of Lowe.
• Identification and developmental expression of a novel low molecular weight neuronal intermediate filament protein expressed in Xenopus laevis.
• Parenchymal organ cystine depletion with long-term cysteamine therapy.
• Myalgia and elevated creatine kinase activity associated with subcutaneous injections of diluent.
• Frameshifts and frameshift suppressors in Saccharomyces cerevisiae.
• Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease.
• Reply to: Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystr...
• Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome.
• Central pontine myelinolysis following bone marrow transplantation complicated by severe hepatic veno-occlusive disease.
• N-acetyl-L-cysteine improves outcome of advanced cerebral adrenoleukodystrophy.
• Assessment of adrenoleukodystrophy lesions by high field MRS in non-sedated pediatric patients.
• Neurologic profile in osteogenesis imperfecta.
• Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria.
• Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation.
• Gabapentin successfully manages chronic unexplained irritability in children with severe neurologic impairment.
• Hematopoietic cell therapy for metabolic disease.
• Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities.
• X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.

Schools

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• Perelman School of Medicine University of Pennsylvania

• Crozier Chester Mc

• Johns Hopkins Hospital

• National Institute Of Health

• University Of Minnesota

Doctors Specialties

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• Clinical Biochemical Genetics
• Clinical Genetics
• Neurology
• Pediatric Neurology

Accepted Insurances

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• Blue Card PPO
• Blue Choice Advantage
• Blue Choice Network POS
• Blue Preferred PPO
• CareFirst Maryland POS
• Cigna HMO
• Cigna PPO
• Great West Healthcare-Cigna PPO
• Open Access Plus
• Choice Care PPO
• MultiPlan PPO

Education

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• University of Minnesota at Fairview
• National Institutes of Health Clinical Center
• Johns Hopkins University
• Drexel University - Hahnemann University Hospital
• Perelman School of Medicine at the University of Pennsylvania

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