Mohammad Rafi
Mohammad Rafi
Jefferson University, Philadelphia, USA
Verified email at jefferson.edu - Homepage
Title
Cited by
Cited by
Year
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
2191997
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
2072000
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
1851999
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
1481993
Structure and organization of the human galactocerebrosidase (GALC) gene
P Luzi, MA Rafi, DA Wenger
Genomics 26 (2), 407-409, 1995
1261995
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
1051995
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
992005
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
872005
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
841996
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), 1-7, 1993
841993
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
762012
Krabbe disease: globoid cell leukodystrophy
DA Wenger, P Luzi
Rosenberg's molecular and genetic basis of neurological and psychiatric …, 2020
732020
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
711990
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
701990
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
692005
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
691995
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
662016
Mutation analysis of feline Niemann–Pick C1 disease
KL Somers, MA Royals, ED Carstea, MA Rafi, DA Wenger, MA Thrall
Molecular genetics and metabolism 79 (2), 99-103, 2003
662003
Globoid cell leukodystrophy in cairn and West Highland white terriers
DA Wenger, T Victoria, MA Rafi, P Luzi, MT Vanier, C Vite, DF Patterson, ...
Journal of Heredity 90 (1), 138-142, 1999
641999
Multiple mutations in the GALC gene in a patient with adult‐onset Krabbe disease
P Luzi, MA Rafi, DA Wenger
Annals of Neurology: Official Journal of the American Neurological …, 1996
621996
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