42 results on '"Birve, Anna"'
Search Results
2. Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD
3. Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis
4. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
5. In vivo analysis of Drosophila SU(Z)12 function
6. PGC-1α is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis
7. Miple1 and miple2 encode a family of MK/PTN homologues in Drosophila melanogaster
8. ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study
9. Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis
10. Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS
11. Angiogenin Variants in Parkinson Disease and Amyotrophic Lateral Sclerosis
12. A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis
13. A large genome scan for rare CNVs in amyotrophic lateral sclerosis
14. A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts
15. A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany
16. Sequence analyses of fimbriae subunit FimA proteins on Actinomyces naeslundii genospecies 1 and 2 and Actinomyces odontolyticus with variant carbohydrate binding specificities
17. Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations: A clinico-genetic study in Germany
18. A 50 bp deletion in the SOD1 promoter lowers enzyme expression but is not associated with ALS in Sweden
19. Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives
20. A 50 bp deletion in the SOD1 promoter lowers enzyme expression but is not associated with ALS in Sweden
21. Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients
22. The Drosophila Midkine/Pleiotrophin Homologues Miple1 and Miple2 Affect Adult Lifespan but Are Dispensable for Alk Signaling during Embryonic Gut Formation
23. Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study
24. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions inC9orf72reveals marked differences in results among 14 laboratories
25. Suppressor of zeste 12, a Polycomb group gene in Drosophila melanogaster; one piece in the epigenetic puzzle
26. No association between VAPB mutations and familial or sporadic ALS in Sweden, Portugal and Iceland
27. No GGGGCC-hexanucleotide repeat expansion inC9ORF72in parkinsonism patients in Sweden
28. A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counseling
29. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
30. Analysis ofFGGYas a risk factor for sporadic amyotrophic lateral sclerosis
31. Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis
32. Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis
33. In vivo analysis of Drosophila SU(Z)12 function
34. Sequence analyses of fimbriae subunit FimA proteins on Actinomyces naeslundii genospecies 1 and 2 and Actinomyces odontolyticus with variant carbohydrate binding specificities
35. Miple1 and miple2 encode a family of MK/PTN homologues in Drosophila melanogaster
36. A 1-Megadalton ESC/E(Z) Complex from Drosophila That Contains Polycomblike and RPD3
37. Su(z)12, a novelDrosophilaPolycomb group gene that is conserved in vertebrates and plants
38. No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden.
39. A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counseling.
40. A 1-Megadalton ESC/E(Z) Complex from Drosophila That Contains Polycomblike and RPD3.
41. Su(z)12, a novel Drosophila Polycomb group gene that is conserved in vertebrates and plants
42. Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.
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