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1. Expertenempfehlung zur Magnetresonanztomographie bei Muskelerkrankungen

2. 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2

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

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

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

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

12. Clinico-genetic findings in 509 frontotemporal dementia patients

14. Contributors

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

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

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

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

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

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

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

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

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

44. Beyond mean value analysis – a voxel‐based analysis of the quantitative MR biomarker water T 2 in the presence of fatty infiltration in skeletal muscle tissue of patients with neuromuscular diseases

45. GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease – Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing

49. Autorenverzeichnis

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