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823 results on '"Nicholson, Garth A"'

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1. A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

2. Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

3. Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

6. A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing

7. Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia

8. The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

9. Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia.

10. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

14. Distribution of ubiquilin 2 and TDP‐43 aggregates throughout the CNS in UBQLN2 p.T487I‐linked amyotrophic lateral sclerosis and frontotemporal dementia

16. Distribution of ubiquilin 2 and TDP‐43 aggregates throughout the CNS in UBQLN2 p.T487I‐linked amyotrophic lateral sclerosis and frontotemporal dementia.

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

18. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

19. Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12

21. Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

22. The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

23. The Gly2019Ser mutation in LRRK2is not fully penetrant in familial Parkinson's disease: the GenePD study

24. The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.

25. Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations

27. The ultrasonic machining of silicon carbide/alumina composites

29. Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS inUBQLN2p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementia

30. Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy

36. Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy: A new mechanism for motor neuron degeneration

37. Controversies and priorities in amyotrophic lateral sclerosis

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

39. The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

40. Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.

43. Long read sequencing overcomes challenges in the diagnosis ofSORDneuropathy

44. A yeast functional screen predicts new candidate ALS disease genes

45. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

46. Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

47. TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

48. Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease

49. Hippocampal protein aggregation signatures fully distinguish pathogenic and wildtypeUBQLN2in amyotrophic lateral sclerosis

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