197 results on '"Gijselinck, Ilse"'
Search Results
2. TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.
3. Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum
4. Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort
5. Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation
6. TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
7. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study
8. Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort
9. Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS
10. Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
11. A Major Genetic Factor at Chromosome 9p Implicated in Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD)
12. Distinct Clinical Characteristics of C9orf72 Expansion Carriers Compared With GRN, MAPT, and Nonmutation Carriers in a Flanders-Belgian FTLD Cohort
13. A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats
14. Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia
15. Identification of 2 Loci at Chromosomes 9 and 14 in a Multiplex Family With Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
16. Alzheimer and Parkinson Diagnoses in Progranulin Null Mutation Carriers in an Extended Founder Family
17. Progranulin Null Mutations in Both Sporadic and Familial Frontotemporal Dementia
18. Mutations Other Than Null Mutations Producing a Pathogenic Loss of Progranulin in Frontotemporal Dementia
19. APP duplication is sufficient to cause early onset Alzheimerʼs dementia with cerebral amyloid angiopathy
20. Visualization of MAPT Inversion on Stretched Chromosomes of Tau-Negative Frontotemporal Dementia Patients
21. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
22. A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD
23. C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment
24. Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region
25. Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort
26. Comprehensive phenotypic description of the Belgian GRN founder family and genetic onset age modifiers (P1.085)
27. TBK1Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
28. Clinical Evidence of Disease Anticipation in Families Segregating aC9orf72Repeat Expansion
29. Clinical characteristics of loss-of function mutations in TBK1 in Belgian FTD and ALS patients
30. Clinical evidence for genetic anticipation in C9orf72 pedigrees
31. The Genetics ofC9orf72Expansions
32. The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter
33. Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort
34. Clinical Evidence for Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion (S21.006)
35. Clinical Features of TBK1 Carriers and Comparison with C9orf72, GRN and Nonmutation Carriers in a Belgian Patient Cohort (S21.007)
36. Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD
37. Global investigation and meta-analysis of the C9orf72 (G(4)C(2))(n) repeat in Parkinson disease
38. A Major Genetic Factor at Chromosome 9p Implicated in Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD)
39. Loss ofTBK1is a frequent cause of frontotemporal dementia in a Belgian cohort
40. Clinical features ofTBK1carriers compared withC9orf72,GRNand non-mutation carriers in a Belgian cohort
41. Loss ofTBK1is a frequent cause of frontotemporal dementia in a Belgian cohort
42. DT-02-01: Loss-of-function mutations in TBK1 are frequently associated with frontotemporal lobar degeneration in a belgian patient cohort
43. Genetic contribution of PGRN, MAPT, VCP, and CHMP2B to the etiology of frontotemporal dementia
44. Progranulin: a growth factor involved in frontotemporal dementia
45. Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion.
46. TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
47. TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions
48. Global investigation and meta-analysis of the C9orf72 (G 4 C 2 ) n repeat in Parkinson disease
49. P4-142: Genomic characterization of the C9orf72 promoter repeat in FTLD and ALS patients
50. Rescue of Progranulin Deficiency Associated with Frontotemporal Lobar Degeneration by Alkalizing Reagents and Inhibition of Vacuolar ATPase
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