31 results on '"Andersen, Peter Munch"'
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2. Integrative genetic analysis illuminates ALS heritability and identifies risk genes
3. High levels of neurofilament light and YKL-40 in cerebrospinal fluid are related to poor outcome in ALS
4. A novel homozygous p.Ser69Pro SOD1 mutation causes severe young-onset ALS with decreased enzyme activity
5. Neurofilaments can differentiate ALS subgroups and ALS from common diagnostic mimics
6. Myofiber Type Shift in Extraocular Muscles in Amyotrophic Lateral Sclerosis
7. Inflammatory profiles relate to survival in subtypes of amyotrophic lateral sclerosis
8. A novel homozygous p.Ser69Pro SOD1 mutation causes severe young-onset ALS with decreased enzyme activity
9. Combined analysis of cytokines and neurofilaments improves differentiation and prognostication in ALS
10. Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity
11. De novo mutations in SOD1 are a cause of ALS
12. Extensive heterogeneity in patients with ALS with mutations in SOD1 in France
13. Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.
14. De novo mutations in are a cause of ALS.
15. Chapter 23 The genetics of amyotrophic lateral sclerosis (ALS)
16. C9orf72 expansion is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis
17. A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts
18. De novo mutations in SOD1are a cause of ALS
19. Misfolded SOD1 inclusions in patients with mutations in C9orf72 and other ALS/FTD-associated genes
20. Misfolded SOD1 inclusions in patients with mutations in and other ALS/FTD-associated genes.
21. Misfolded SOD1 inclusions in patients with mutations in C9orf72and other ALS/FTD-associated genes
22. Disease-Related Changes in the Cerebrospinal Fluid Metabolome in Amyotrophic Lateral Sclerosis Detected by GC/TOFMS
23. Good practice in the management of amyotrophic lateral sclerosis: Clinical guidelines. An evidence‐based review with good practice points. EALSC Working Group
24. External radiation of the parotid glands significantly reduces drooling in patients with motor neurone disease with bulbar paresis
25. Manganese-containing superoxide dismutase signal sequence polymorphism associated with sporadic motor neuron disease
26. Extensive heterogeneity in patients with ALS with mutations in in France.
27. Extensive heterogeneity in patients with ALS with mutations in SOD1in France
28. Integrative genetic analysis illuminates ALS heritability and identifies risk genes
29. Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.
30. De novo mutations in SOD1 are a cause of ALS.
31. The genetics of amyotrophic lateral sclerosis (ALS).
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