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1. Expertenempfehlung zur Magnetresonanztomographie bei Muskelerkrankungen

2. Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target

3. 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2

4. Economic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany

6. Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study

8. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

10. Proteomic studies in VWA1‐related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers

14. Clinico-genetic findings in 509 frontotemporal dementia patients

16. Contributors

17. Identification of novel genetic variation causing epilepsy using linkage analysis and next generation sequencing techniques

18. Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target

19. Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study.

20. Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study

31. Multiomic ALS signatures highlight sex differences and molecular subclusters and identify the MAPK pathway as therapeutic target

35. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

36. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

37. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

38. Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey

40. Health-Related Quality of Life in Spinal Muscular Atrophy Patients and Their Caregivers—A Prospective, Cross-Sectional, Multi-Center Analysis

41. Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis

43. Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

45. Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing

46. Bi‐AllelicCOQ4Variants Cause Adult‐Onset Ataxia‐Spasticity Spectrum Disease

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