Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin.

Kleijer WJ, Keulemans JL, van der Kraan M, Geilen GG, van der Helm RM, Rafi MA, Luzi P, Wenger DA, Halley DJ, van Diggelen OP

Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate.

Luzi P, Rafi MA, Victoria T, Baskin GB, Wenger DA

Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.

Wenger DA, Rafi MA, Luzi P

Retroviral vector-mediated transfer of the galactocerebrosidase (GALC) cDNA leads to overexpression and transfer of GALC activity to neighboring cells.

Rafi MA, Fugaro J, Amini S, Luzi P, de Gala G, Victoria T, Dubell C, Shahinfar M, Wenger DA

Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease.

Luzi P, Rafi MA, Wenger DA

Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers.

Victoria T, Rafi MA, Wenger DA

Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel.

Rafi MA, Luzi P, Zlotogora J, Wenger DA

Characterization of the large deletion in the GALC gene found in patients with Krabbe disease.

Luzi P, Rafi MA, Wenger DA

A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease.

Rafi MA, Luzi P, Chen YQ, Wenger DA

Structure and organization of the human galactocerebrosidase (GALC) gene.

Luzi P, Rafi MA, Wenger DA

Metachromatic leukodystrophy among southern Alaskan Eskimos: molecular and genetic studies.

Pastor-Soler NM, Schertz EM, Rafi MA, de Gala G, Wenger DA

Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.

Chakraborty S, Rafi MA, Wenger DA

Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene.

Pastor-Soler NM, Rafi MA, Hoffman JD, Hu D, Wenger DA

Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization.

Cannizzaro LA, Chen YQ, Rafi MA, Wenger DA

Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy.

Chen YQ, Rafi MA, de Gala G, Wenger DA