35 results on '"Stubblefield, Barbara K."'
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2. A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson's disease
3. DNA Targeting of Rhinal Cortex D2 Receptor Protein Reversibly Blocks Learning of Cues That Predict Reward
4. Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease
5. Identification of Recombinant Alleles Using Quantitative Real-Time PCR: Implications for Gaucher Disease
6. In silico and functional studies of the regulation of the glucocerebrosidase gene
7. Genetic Heterogeneity in Type 1 Gaucher Disease: Multiple Genotypes in Ashkenazic and Non-Ashkenazic Individuals
8. Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders
9. Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease
10. A Mutation in SCARB2 is a Modifier in Gaucher Disease†
11. Phenotypic continuum in neuronopathic gaucher disease: an intermediate phenotype between type 2 and type 3
12. Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease
13. The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease
14. Patient-derived Gaucher induced pluripotent stem cells as a tool to understand common complex disorders
15. IPSC-derived dopaminergic neurons from patients with Gaucher disease and Parkinsonism demonstrate the potential of a new glucocerebrosidase chaperone
16. False-positive results using a Gaucher diagnostic kit – RecTL and N370S
17. Macrophage Models of Gaucher Disease for Evaluating Disease Pathogenesis and Candidate Drugs
18. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease
19. The development and evaluation of a macrophage model of Gaucher disease
20. A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.
21. A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders
22. A Germline Mutation in Two Families with Gaucher Disease
23. Evaluation of Quinazoline Analogues as Glucocerebrosidase Inhibitors with Chaperone Activity
24. 139. The identification of recombinant alleles in Gaucher disease using real-time PCR
25. Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease
26. Gaudier patients with oculomotor abnormalities do not have a unique genotype
27. 108 Mutant glucocerebrosidase and the synucleinopathies
28. Myoclonic Epilepsy in Gaucher Disease: Genotype-Phenotype Insights from a Rare Patient Subgroup
29. Genotypic Heterogeneity and Phenotypic Variation among Patients with Type 2 Gaucher's Disease
30. Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene
31. DIFFERENT SITES OF RECOMBINATION BETWEEN THE GLUCOCEREBROSIDASE GENE AND PSEUDOGENE IN PATIENTS WITH GAUCHER DISEASE. † 875
32. Gaudier patients with oculomotor abnormalities do not have a unique genotype.
33. Regional Distribution of the GABAA/Benzodiazepine Receptor (α Subunit) mRNA in Rat Brain.
34. A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.
35. Regional Distribution of the GABAA/Benzodiazepine Receptor (? Subunit) mRNA in Rat Brain
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