AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy.

Rafi MA, Zhi Rao H, Passini MA, Curtis M, Vanier MT, Zaka M, Luzi P, Wolfe JH, Wenger DA

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.

Luzi P, Zaka M, Rao HZ, Curtis M, Rafi MA, Wenger DA

Mutation analysis of feline Niemann-Pick C1 disease.

Somers KL, Royals MA, Carstea ED, Rafi MA, Wenger DA, Thrall MA

Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy.

Rafi MA, Coppola S, Liu SL, Rao HZ, Wenger DA

Peripheral neuropathy with hypomyelinating features in adult-onset Krabbe's disease.

Sabatelli M, Quaranta L, Madia F, Lippi G, Conte A, Lo Monaco M, Di Trapani G, Rafi MA, Wenger DA, Vaccaro AM, Tonali P

Retrovirus-mediated gene transfer and galactocerebrosidase uptake into twitcher glial cells results in appropriate localization and phenotype correction.

Luddi A, Volterrani M, Strazza M, Smorlesi A, Rafi MA, Datto J, Wenger DA, Costantino-Ceccarini E

Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease).

Luzi P, Rafi MA, Zaka M, Curtis M, Vanier MT, Wenger DA

Krabbe disease: genetic aspects and progress toward therapy.

Wenger DA, Rafi MA, Luzi P, Datto J, Costantino-Ceccarini E

Evidence of diffuse brain pathology and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease.

De Stefano N, Dotti MT, Mortilla M, Pappagallo E, Luzi P, Rafi MA, Formichi P, Inzitari D, Wenger DA, Federico A

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.

Millat G, Marçais C, Rafi MA, Yamamoto T, Morris JA, Pentchev PG, Ohno K, Wenger DA, Vanier MT

Protracted course of Krabbe disease in an adult patient bearing a novel mutation.

Jardim LB, Giugliani R, Pires RF, Haussen S, Burin MG, Rafi MA, Wenger DA

Transduction of cultured oligodendrocytes from normal and twitcher mice by a retroviral vector containing human galactocerebrosidase (GALC) cDNA.

Costantino-Ceccarini E, Luddi A, Volterrani M, Strazza M, Rafi MA, Wenger DA

Globoid cell leukodystrophy in cairn and West Highland white terriers.

Wenger DA, Victoria T, Rafi MA, Luzi P, Vanier MT, Vite C, Patterson DF, Haskins MH

Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in rhesus monkeys (Macaca mulatta).

Baskin GB, Ratterree M, Davison BB, Falkenstein KP, Clarke MR, England JD, Vanier MT, Luzi P, Rafi MA, Wenger DA

Analysis of the 5' flanking region of the human galactocerebrosidase (GALC) gene.

Luzi P, Victoria T, Rafi MA, Wenger DA