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21 results on '"Kevin P. Kenna"'

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1. The effect of SMN gene dosage on ALS risk and disease severity

2. Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene

3. Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis

4. Genetic analysis of ALS cases in the isolated island population of Malta

5. CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?

6. Transcription factor Pebbled/RREB1 regulates injury-induced axon degeneration

7. The selective anatomical vulnerability of ALS: ‘disease-defining’ and ‘disease-defying’ brain regions

8. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

9. The role of de novo mutations in the development of amyotrophic lateral sclerosis

10. Project MinE: study design and pilot analyses of a large-scale whole genome sequencing study in amyotrophic lateral sclerosis

11. Basal ganglia involvement in amyotrophic lateral sclerosis

12. Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: A population-based case-control cohort study of familial and sporadic amyotrophic lateral sclerosis

13. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

14. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

15. Patterns of cerebral and cerebellar white matter degeneration in ALS: Figure 1

16. Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

17. Multiparametric MRI study of ALS stratified for the C9orf72 genotype

18. Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants

19. UBQLN2 mutations are not a frequent cause of amyotrophic lateral sclerosis in Ireland

20. H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

21. The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

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