| Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications DA Wenger, MA Rafi, P Luzi Human mutation 10 (4), 268-279, 1997 | 263 | 1997 |
| Krabbe disease: genetic aspects and progress toward therapy DA Wenger, MA Rafi, P Luzi, J Datto, E Costantino-Ceccarini Molecular genetics and metabolism 70 (1), 1-9, 2000 | 255 | 2000 |
| 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 G Millat, C Marçais, MA Rafi, T Yamamoto, JA Morris, PG Pentchev, ... The American Journal of Human Genetics 65 (5), 1321-1329, 1999 | 254 | 1999 |
| Blood-brain barrier transport machineries and targeted therapy of brain diseases J Barar, MA Rafi, MM Pourseif, Y Omidi BioImpacts: BI 6 (4), 225, 2016 | 214 | 2016 |
| Cloning and expression cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy YQ Chen, MA Rafi, G de Gala, DA Wenger Human molecular genetics 2 (11), 1841-1846, 1993 | 179 | 1993 |
| Epitope-based vaccine design: a comprehensive overview of bioinformatics approaches S Parvizpour, MM Pourseif, J Razmara, MA Rafi, Y Omidi Drug Discovery Today 25 (6), 1034-1042, 2020 | 169 | 2020 |
| Structure and organization of the human galactocerebrosidase (GALC) gene P Luzi, MA Rafi, DA Wenger Genomics 26 (2), 407-409, 1995 | 145 | 1995 |
| A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. MA Rafi, P Luzi, YQ Chen, DA Wenger Human molecular genetics 4 (8), 1285-1289, 1995 | 131 | 1995 |
| AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy MA Rafi, HZ Rao, MA Passini, M Curtis, MT Vanier, M Zaka, P Luzi, ... Molecular therapy 11 (5), 734-744, 2005 | 117 | 2005 |
| Extended normal life after AAVrh10-mediated gene therapy in the mouse model of Krabbe disease MA Rafi, HZ Rao, P Luzi, MT Curtis, DA Wenger Molecular Therapy 20 (11), 2031-2042, 2012 | 110 | 2012 |
| AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2 D Lin, CR Fantz, B Levy, MA Rafi, C Vogler, DA Wenger, MS Sands Molecular Therapy 12 (3), 422-430, 2005 | 110 | 2005 |
| Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers T Victoria, MA Rafi, DA Wenger Genomics 33 (3), 457-462, 1996 | 104 | 1996 |
| Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency MA Rafi, G de Gala, X Zhang, DA Wenger Somatic cell and molecular genetics 19, 1-7, 1993 | 96 | 1993 |
| Characterization of the large deletion in the GALC gene found in patients with Krabbe disease P Luzi, MA Rafi, DA Wenger Human molecular genetics 4 (12), 2335-2338, 1995 | 91 | 1995 |
| Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency. XL Zhang, MA Rafi, G DeGala, DA Wenger Proceedings of the National Academy of Sciences 87 (4), 1426-1430, 1990 | 86 | 1990 |
| Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in rhesus monkeys (Macaca mulatta) GB Baskin, M Ratterree, BB Davison, KP Falkenstein, MR Clarke, ... Comparative Medicine 48 (5), 476-482, 1998 | 84 | 1998 |
| Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy MA Rafi, XL Zhang, G DeGala, DA Wenger Biochemical and biophysical research communications 166 (2), 1017-1023, 1990 | 82 | 1990 |
| Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel MA Rafi, P Luzi, J Zlotogora, DA Wenger Human genetics 97, 304-308, 1996 | 81 | 1996 |
| Insulin-like growth factor-1 provides protection against psychosine-induced apoptosis in cultured mouse oligodendrocyte progenitor cells using primarily the PI3K/Akt pathway M Zaka, MA Rafi, HZ Rao, P Luzi, DA Wenger Molecular and Cellular Neuroscience 30 (3), 398-407, 2005 | 79 | 2005 |
| Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy P Luzi, RM Abraham, MA Rafi, M Curtis, DC Hooper, DA Wenger Brain research 1300, 146-158, 2009 | 78 | 2009 |
