S. Miranda

Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells from acid sphingomyelinase-deficient mice: implications for Niemann-Pick disease gene therapy and the development of improved stem cell gene transfer procedures.

E. Schuchman, S. Gatt, S. Erlich, 1999, Blood.

Characterization of human acid sphingomyelinase purified from the media of overexpressing Chinese hamster ovary cells.

E. Schuchman, S. Gatt, S. Miranda, 1999, Biochimica et biophysica acta.

Infusion of recombinant human acid sphingomyelinase into Niemann‐Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology

R. Desnick, E. Schuchman, S. Gatt, 2000, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Biochemical, pathological, and clinical response to transplantation of normal bone marrow cells into acid sphingomyelinase-deficient mice.

V. Friedrich, E. Schuchman, S. Gatt, 1998, Transplantation.

Bone marrow transplantation in acid sphingomyelinase-deficient mice: engraftment and cell migration into the brain as a function of radiation, age, and phenotype.

V. Friedrich, E. Schuchman, S. Gatt, 1997, Blood.

Creation of a mouse model for non-neurological (type B) Niemann-Pick disease by stable, low level expression of lysosomal sphingomyelinase in the absence of secretory sphingomyelinase: relationship between brain intra-lysosomal enzyme activity and central nervous system function.

C. Devlin, E. Schuchman, I. Tabas, 2000, Human molecular genetics.

Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells based on acid sphingomyelinase expression.

E. Schuchman, S. Gatt, S. Erlich, 2000, Methods in enzymology.

Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann–Pick disease

V. Friedrich, E. Schuchman, S. Gatt, 2000, Gene Therapy.

Oocyte apoptosis is suppressed by disruption of the acid sphingomyelinase gene or by sphingosine -1-phosphate therapy

John Calvin Reed, Z. Fuks, J. Tilly, 2000, Nature Medicine.

Patterned cerebellar Purkinje cell death in a transgenic mouse model of Niemann Pick type A/B disease

R. Hawkes, E. Schuchman, S. Miranda, 2001, The European journal of neuroscience.

Niemann-Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testing.

E. Schuchman, S. Miranda, 1997, Genetic testing.