Prof.ssa Graziella Uziel
Education
Graduated from Medical School magna cum laude University of Milan Italy 1977
Residency in Neurology 1981
Residency in Pediatrics 1986
Professional Experiences
1977-1980: Postdoc fellowship in the Laboratory of Biochemistry and Genetics at the Neurological Institute C. Besta. Milan
1981-1982: Postdoctoral fellowship in Pediatric Neurology at Columbia University. New York
1983-1984: Assistant in Child Neurology at the Neurological Institute C. Besta. Milan
1994-2007: Associated in Child Neurology at the Neurological Institute C. Besta. Milan
Professional Experties
Inherited metabolic encephalopathies in childhood
Screening, clinics, therapy in peroxisomal disorders with particular interest in adrenoleukodystrophy.
Leukoencephalopathies in children
Mitochondrial Encephalopathies and Myopathies in children
Neurological inclusion criteria and follow-up for treatment of lysosomal storage disorders with bone marrow transplantation
Academic Activities
Since 2003 Professor of Neurogenetics at the Faculty of Clinical Psichology Università degli Studi Bicocca- Milan.
Research Activities
Biochemical and clinical research in lysosomal storage disorders.
Biochemical and clinical research in lipid storage myopathies and mitochondrial disorderswith particular interest in disorders due to fatty acid ß-oxidation deficiency, pyruvate dehydrogenase deficiency and respiratory chain defects.
Clinical research in inherited ataxias in childhood
Clinical and research in peroxisomal disorders with particular interest to X-linked adrenoleukodystrophy.
Clinical research in the field of defined and undefined forms of leukodystrophies in childhood.
Research activity is documeted by more than 100 publications including papers in indicized scientific journals and articles in books.