1020 Locust Street
Suite 393 JAH
Philadelphia, PA 19107
(215) 503-5715
(215) 923-7747 fax
Suite 393 JAH
Philadelphia, PA 19107
(215) 503-5715
(215) 923-7747 fax
Most Recent Peer-reviewed Publications
- Extended normal life after AAVrh10-mediated gene therapy in the mouse model of krabbe disease
- Combined effects of hyperglycemic conditions and HIV-1 Nef: A potential model for induced HIV neuropathogenesis
- Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy
- Significant correction of pathology in brains of twitcher mice following injection of genetically modified mouse neural progenitor cells
- A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.
- HIV-1 Vpr potently induces programmed cell death in the CNS in vivo
- Insulin-like growth factor-1 provides protection against psychosine-induced apoptosis in cultured mouse oligodendrocyte progenitor cells using primarily the PI3K/Akt pathway
- AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2
- Biochemical and pathological evaluation of lo 13AF ng-lived mice with globoid cell leukodystrophy after bone marrow transplantation
- AAV-Mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy
- Generation of transgenic mice expressing insulin-like growth factor-1 under the control of the myelin basic protein promoter: Increased myelination and potential for studies on the effects of increased IGF-1 on experimentally and genetically induced demyelination
- Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy
- Mutation analysis of feline Niemann-Pick C1 disease
- Peripheral neuropathy with hypomyelinating features in adult-onset Krabbe's disease
- Retrovirus-mediated gene transfer and galactocerebrosidase uptake into twitcher glial cells results in appropriate localization and phenotype correction
- Generation of a mouse with low galactocerebrosidase activity by gene targeting: A new model of globoid cell leukodystrophy (Krabbe disease)
- Krabbe disease: Genetic aspects and progress toward therapy
- Evidence of diffuse brain pathololgy and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease
- Niemann-Pick C1 disease: The I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype
- Protracted course of Krabbe disease in an adult patient bearing a novel mutation