1,014 results on '"Deschauer, Marcus"'
Search Results
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
5. A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders
6. Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study
7. Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants
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
10. Characterization of cognitive impairment in adult polyglucosan body disease
11. Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study.
12. Clinico-genetic findings in 509 frontotemporal dementia patients
13. Treatment and Management of Hereditary Metabolic Myopathies
14. Contributors
15. Metabolische Myopathien
16. Mitochondriopathien
17. Progressive Muskeldystrophien und kongenitale Myopathien
18. Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study
19. Muskelerkrankungen
20. Bilateral thoracic disc herniation with abdominal wall paresis: a case report
21. CANVAS: Fallbericht einer neuen Repeat-Erkrankung mit spät beginnender Ataxie
22. Phenotype of carnitine palmitoyltransferase II (CPT II) deficiency: A questionnaire-based survey
23. Combined Treatment With Pembrolizumab and Allogenic BK Virus-Specific T Cells in Progressive Multifocal Leukoencephalopathy: A Case Report
24. Multiomic ALS signatures highlight sex differences and molecular subclusters and identify the MAPK pathway as therapeutic target
25. Clinical relevance of genetic variants in juvenile stroke patients: A plea for a precise classification
26. Mitochondriopathien
27. Progressive Muskeldystrophien und kongenitale Myopathien
28. Metabolische Myopathien
29. Correction to: Bilateral thoracic disc herniation with abdominal wall paresis: a case report
30. Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen
31. Radiation dose reduction for CT-guided intrathecal nusinersen administration in adult patients with spinal muscular atrophy
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
36. Progressive Muskeldystrophien und kongenitale Myopathien
37. Mitochondriopathien
38. Metabolische Myopathien
39. Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum
40. Reply to: “ Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders: More Common than Expected”
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
46. Prevalence of Headache in Patients With Mitochondrial Disease: A Cross‐Sectional Study
47. Chronic Progressive External Ophthalmoplegia – A Common Ocular Manifestation of Mitochondrial Disorders
48. 9. Myopathien
49. Autorenverzeichnis
50. Muskelerkrankungen
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