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412 results on '"Neurogenetica"'

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1. Assessment of risk of ALS conferred by the GGGGCC hexanucleotide repeat expansion in C9orf72 among first-degree relatives of patients with ALS carrying the repeat expansion

2. Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS

3. Correction to: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration (Nature Communications, (2022), 13, 1, (6901), 10.1038/s41467-022-34620-y)

4. Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis

5. Computing linkage disequilibrium aware genome embeddings using autoencoders

9. ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons

10. ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes

11. Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids

12. Potential causal association between gut microbiome and posttraumatic stress disorder

13. Prognostic value of histopathologic traits independent of stromal tumor-infiltrating lymphocyte levels in chemotherapy-naïve patients with triple-negative breast cancer

15. Heritable defects in telomere and mitotic function selectively predispose to sarcomas

16. Integrative genetic analysis illuminates ALS heritability and identifies risk genes

17. Association of Risk Variants in the CFH Gene With Elevated Levels of Coagulation and Complement Factors in Idiopathic Multifocal Choroiditis

18. Genetic variability in sporadic amyotrophic lateral sclerosis

19. Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation

20. Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity

21. Large-scale analysis of structural brain asymmetries in schizophrenia via the ENIGMA consortium

23. Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis

24. Associations Between Polygenic Risk Score Loading, Psychosis Liability, and Clozapine Use Among Individuals With Schizophrenia

26. The Relationship of Attention-Deficit/Hyperactivity Disorder With Posttraumatic Stress Disorder: A Two-Sample Mendelian Randomization and Population-Based Sibling Comparison Study

27. A Genome-Wide Association Study of Outcome After Aneurysmal Subarachnoid Haemorrhage: Discovery Analysis

28. Genetic variation in NFE2L2 is associated with outcome following aneurysmal subarachnoid haemorrhage

29. Age- and sex-specific associations between risk scores for schizophrenia and self-reported health in the general population

30. Polygenic risk, familial liability and stress reactivity in psychosis: an experience sampling study

31. Context v. algorithm: Evidence that a transdiagnostic framework of contextual clinical characterization is of more clinical value than categorical diagnosis

32. Longitudinal associations between alcohol use, smoking, genetic risk scoring and symptoms of depression in the general population: A prospective 6-year cohort study

33. Independent contribution of polygenic risk for schizophrenia and cannabis use in predicting psychotic-like experiences in young adulthood: Testing gene × environment moderation and mediation

36. Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis

37. Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries

38. Stroke genetics informs drug discovery and risk prediction across ancestries

39. Intracranial Aneurysm Classifier Using Phenotypic Factors: An International Pooled Analysis

40. Sex Hormones and Risk of Aneurysmal Subarachnoid Hemorrhage: A Mendelian Randomization Study

41. Rare copy number variation in posttraumatic stress disorder

43. A polygenic-informed approach to a predictive EEG signature empowers antidepressant treatment prediction: A proof-of-concept study

44. Childhood maltreatment mediates the effect of the genetic background on psychosis risk in young adults

45. Genome-wide association analyses of symptom severity among clozapine-treated patients with schizophrenia spectrum disorders

46. Genome-wide linkage analysis combined with genome sequencing in large families with intracranial aneurysms

48. Genetic variants associated with longitudinal changes in brain structure across the lifespan

49. Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

50. Tumor-related molecular determinants of neurocognitive deficits in patients with diffuse glioma

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