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226 results on '"Orrell R"'

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1. P200 The UK myotonic dystrophy patient registry - empowering clinical research and patient voice with an effective translational research tool

2. P202 The UK Facioscapulohumeral Muscular Dystrophy Patient Registry: a powerful tool to support clinical research and patient voice in the translational research pathway

3. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (Nature Genetics, (2021), 53, 12, (1636-1648), 10.1038/s41588-021-00973-1)

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

6. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (Nature Genetics, (2021), 53, 12, (1636-1648), 10.1038/s41588-021-00973-1)

7. MYOTONIC DYSTROPHY

8. FSHD

9. Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

11. Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

12. Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging. (Short Report)

23. Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

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

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

28. Gastrostomy in patients with amyotrophic lateral sclerosis (ProGas): a prospective cohort study

29. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

30. Pain and quality of life in the UK FSHD patient registry

31. Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis

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

33. Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis

35. Testosterone deficiency myopathy

48. Clarification

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