Rafi MA - Search Results

1

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. Jardim LB, et al. Among authors: rafi ma. Arch Neurol. 1999 Aug;56(8):1014-7. doi: 10.1001/archneur.56.8.1014. Arch Neurol. 1999. PMID: 10448809

2

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. Rafi MA, et al. Hum Mol Genet. 1995 Aug;4(8):1285-9. doi: 10.1093/hmg/4.8.1285. Hum Mol Genet. 1995. PMID: 7581365

3

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

Luzi P, Rafi MA, Wenger DA. Luzi P, et al. Among authors: rafi ma. Ann Neurol. 1996 Jul;40(1):116-9. doi: 10.1002/ana.410400119. Ann Neurol. 1996. PMID: 8687180

4

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

Luzi P, Rafi MA, Wenger DA. Luzi P, et al. Among authors: rafi ma. Genomics. 1995 Mar 20;26(2):407-9. doi: 10.1016/0888-7543(95)80230-j. Genomics. 1995. PMID: 7601472

5

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

Chen YQ, Rafi MA, de Gala G, Wenger DA. Chen YQ, et al. Among authors: rafi ma. Hum Mol Genet. 1993 Nov;2(11):1841-5. doi: 10.1093/hmg/2.11.1841. Hum Mol Genet. 1993. PMID: 8281145

6

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

Luzi P, Rafi MA, Wenger DA. Luzi P, et al. Among authors: rafi ma. Hum Mol Genet. 1995 Dec;4(12):2335-8. doi: 10.1093/hmg/4.12.2335. Hum Mol Genet. 1995. PMID: 8634707

7

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. Victoria T, et al. Among authors: rafi ma. Genomics. 1996 May 1;33(3):457-62. doi: 10.1006/geno.1996.0220. Genomics. 1996. PMID: 8661004

8

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. Rafi MA, et al. Hum Genet. 1996 Mar;97(3):304-8. doi: 10.1007/BF02185759. Hum Genet. 1996. PMID: 8786069

9

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. Luzi P, et al. Among authors: rafi ma. Genomics. 1997 Jun 1;42(2):319-24. doi: 10.1006/geno.1997.4744. Genomics. 1997. PMID: 9192853

10

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. Kleijer WJ, et al. Among authors: rafi ma. J Inherit Metab Dis. 1997 Aug;20(4):587-94. doi: 10.1023/a:1005315311165. J Inherit Metab Dis. 1997. PMID: 9266397

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