104 results on '"Mole, S E."'
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2. Distinctive muscle pathology in patients with mutations in the Cathepsin D gene: O11
3. NCL Nomenclature and Classification
4. The NCLs: Evolution of the Concept and Classification
5. NCL Diagnosis and Algorithms
6. Clinical application of a proposed axial classification system for the neuronal ceroid lipofuscinoses: W035
7. Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses
8. A multiple interval physical map of the pericentromeric region of human chromosome 10
9. Investigating the Specificity of Monoclonal Antibodies to Protein Antigens Using β-Galactosidase Fusion Proteins
10. Chapter 12: CLN8
11. Chapter 3: NCL diagnosis and algorithms
12. Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology
13. Novel CLN3 mutation causing autophagic vacuolar myopathy
14. New mutations in the neuronal ceroid lipofuscinosis genes
15. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis
16. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses
17. CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL
18. A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis
19. Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1
20. A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset
21. Identification of a Transactivation Motif in the CLN3 Protein
22. Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis
23. Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland.
24. Rapid diagnostic test for the major mutation underlying Batten disease.
25. Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits
26. Dinucleotide repeat polymorphisms at the D10S183 and D10S245 loci
27. Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease).
28. Host proteins that bind to or mimic SV40 large T antigen: using antibodies to look at protein interactions and their significance.
29. Use of simian virus 40 large T-beta-galactosidase fusion proteins in an immunochemical analysis of simian virus 40 large T antigen
30. A CLN5mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset
31. Corrigendum: Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits (Human Molecular Genetics (1998) 7 (291-297))
32. Morphologically targeted DNA screening of neuronal ceroid lipofuscinoses CLN5 and CLN6 in Argentina
33. Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2
34. Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein
35. Genetic and molecular basis of Adult-onset Neuronal Ceroid Lipofuscinoses (ANCL)
36. Identification of genetic interactions in a S. pombe yeast model for juvenile CLN3 disease
37. Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis
38. Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.
39. Analysis of CLN3-protein interactions using the yeast two-hybrid system.
40. Genomic structure of three CLN3-like genes in Caenorhabditis elegans.
41. Analysis of candidate genes in the CLN6 critical region using in silico cloning.
42. Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.
43. New mutations in the neuronal ceroid lipofuscinosis genes.
44. Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene.
45. Batten's disease: eight genes and still counting?
46. The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland.
47. A murine model for juvenile NCL: gene targeting of mouse Cln3.
48. Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
49. Batten disease: four genes and still counting.
50. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
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