846 results on '"Dion, Patrick A."'
Search Results
2. Rare-variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome
3. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
4. Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies
5. Autosomal Recessive Cerebellar Ataxias
6. The value of testing for ATXN2 intermediate repeat expansions in routine clinical practice for amyotrophic lateral sclerosis
7. A single-cell eQTL atlas of the human cerebellum reveals vulnerability of oligodendrocytes in essential tremor
8. A single-cell eQTL atlas of the human cerebellum reveals vulnerability of oligodendrocytes in essential tremor
9. Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability
10. A polymorphism in the glutamate metabotropic receptor 7 is associated with cognitive deficits in the early phases of psychosis
11. Copy-number variants in the contactin-5 gene are a potential risk factor for autism spectrum disorder
12. Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective
13. Investigation of the causal relationship between ALS and autoimmune disorders: a Mendelian randomization study
14. Transcriptome-wide association study reveals increased neuronal FLT3 expression is associated with Tourette’s syndrome
15. Transcriptomic effects of propranolol and primidone converge on molecular pathways relevant to essential tremor
16. Transcriptomic and epigenomic consequences of heterozygous loss of function mutations inAKAP11, the first large-effect shared risk gene for bipolar disorder and schizophrenia
17. Autosomal Recessive Cerebellar Ataxias
18. Chronic lithium treatment alters the excitatory/ inhibitory balance of synaptic networks and reduces mGluR5-PKC signalling in mouse cortical neurons
19. Exome-wide rare variant analysis in familial essential tremor
20. Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis
21. Rare copy number variation in TMEM50A implicated in essential tremor
22. Convergence of bipolar disorder treatments and gene knockdown on the transcriptome
23. CRISPR/CAS9 system corrects PABPN1 mutation in oculopharyngeal muscular dystrophy
24. Cerebellar oligodendrocytes as key initial players in essential tremor pathophysiology
25. Exploring the common genetic architecture of autism spectrum disorder using a novel multi-polygenic risk score approach
26. De novo variant analysis of childhood-onset obsessive-compulsive disorder in the French-Canadian population
27. Restless legs syndrome drug discovery using A C. elegans model
28. CACNA1A mutations in essential tremor lead to dysregulation of neuron exocytosis machinery
29. Huntington's disease in an African family
30. Exploring ALS differential vulnerability using single-cell transcriptomic analysis
31. SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome
32. Genetic architecture and adaptations of Nunavik Inuit
33. Oligogenicity, C9orf72 expansion, and variant severity in ALS
34. Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia
35. Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis
36. Genome-wide estimates of heritability and genetic correlations in essential tremor
37. Autosomal Recessive Cerebellar Ataxias
38. Multimodal neuroimaging analysis in patients with SYNE1 Ataxia
39. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
40. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
41. Cognitive and Psychiatric Evaluation in SYNE1 Ataxia
42. Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases
43. Transcriptome-wide association study for restless legs syndrome identifies new susceptibility genes
44. Genetics of restless legs syndrome
45. Reliability and correlation of mixture cell correction in methylomic and transcriptomic blood data
46. Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes
47. Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues
48. A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia
49. Screening of novel restless legs syndrome–associated genes in French-Canadian families
50. TOX3 Variants Are Involved in Restless Legs Syndrome and Parkinson’s Disease with Opposite Effects
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