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105 results on '"Majounie, E"'

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1. Genetically elevated high‐density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease

2. Dentatorubral pallidoluysian atrophy in South Wales

5. Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease

6. Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease

7. Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease

8. Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

9. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

10. Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

11. Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

12. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

13. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

14. A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

15. Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases

16. Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

17. NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

18. TREM2 variants in Alzheimer's disease

19. ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations

20. C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

21. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

22. Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

23. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study

24. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

25. C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

26. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

27. C9ORF72 in a Large Series of Italian and Sardinian Familial and Sporadic ALS Patients (P05.161)

28. C9ORF72 in a Large Series of Italian and Sardinian Familial and Sporadic ALS Patients (IN9-1.003)

31. Germline and somaticNF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs)

33. C9ORF72 in a Large Series of Italian and Sardinian Familial and Sporadic ALS Patients

34. Presence of Complete NF1 Gene Deletion Is not Frequently Associated With the Development of MPNSTs.

35. C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

36. NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations.

37. NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations.

38. Pan-cancer analysis of advanced patient tumors reveals interactions between therapy and genomic landscapes.

39. Fluorouracil sensitivity in a head and neck squamous cell carcinoma with a somatic DPYD structural variant.

40. Blepharospasm: A genetic screening study in 132 patients.

41. Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.

42. Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging.

43. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

44. Tdp-43 cryptic exons are highly variable between cell types.

45. Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.

46. SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.

47. The Correlation between Inflammatory Biomarkers and Polygenic Risk Score in Alzheimer's Disease.

49. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

50. Common polygenic variation enhances risk prediction for Alzheimer's disease.

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