264 results on '"Lochmüller H"'
Search Results
2. Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading
3. P76 The Canadian neuromuscular disease registry: a national spinal muscular atrophy registry for real world evidence
4. P62 SIMPATHIC: accelerating drug repurposing for rare neurological, neurometabolic and neuromuscular disorders by exploiting SIMilarities in clinical and molecular PATHology
5. O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
6. P192 The open-access treatabolome platform enhances the visibility of treatable and actionable genes in RD-connect's GPAP and other clinical diagnosis support tools
7. VP.20 Cathepsin D as biomarker in CSF of nusinersen-treated patients with spinal muscular atrophy
8. VP.91 A preliminary assessment of the psychometric properties of the congenital myotonic dystrophy type 1 rating scale (CDM1-RS) in a phase 2/3 study
9. P.98 Calculating the genetic prevalence of congenital myasthenic syndromes based on data from genomic databases
10. FP.21 Congenital myasthenic syndrome with Desmin aggregates: A novel association in recessive desminopathies due to a recurrent intronic DES mutation
11. P.203 Biomarkers for central nervous system involvement in Myotonic dystrophy type 1
12. VP.17 Long-term effect of nusinersen treatment on motor, respiratory and bulbar function in children with SMA type 1 - a 3-year SMArtCARE registry study
13. P.90 Understanding the role of GFPT1 in congenital myasthenic syndromes
14. I.01Congenital myasthenic syndromes
15. P.83 Molecular pathology of human PPP1R21 deficiency
16. DMD - BIOMARKERS
17. NEW GENES AND DISEASES
18. REGISTRIES AND CARE OF NMD
19. REGISTRIES AND CARE OF NMD
20. Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada
21. Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a ‘Treatabolome’
22. The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry
23. Limb Girdle Muscular Dystrophies
24. SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES
25. AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE
26. SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES
27. REGISTRIES, CARE, QUALITY OF LIFE, MANAGEMENT OF NMD
28. DMD – BIOMARKERS & OUTCOME MEASURES
29. Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies
30. Measuring Outcomes in Adults with Spinal Muscular Atrophy – Challenges and Future Directions – Meeting Report
31. P.392SMArtCARE - Real-world-data collection of patients with spinal muscular atrophy
32. P.380
33. SMArtCARE – Real-World-Daten zur Therapie der Spinalen Muskelatrophie
34. Update on inherited neuromuscular transmission disorders (congenital myasthenic syndromes)
35. Targeted therapies for rare, inherited neuromuscular disorders – steps towards a treatabolome
36. Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease
37. MITOCHONDRIAL DISEASES (Posters)
38. CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA
39. CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA
40. CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA
41. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES
42. Survival patterns and cancer determinants in families with myotonic dystrophy type 1
43. Adrenergic agonists modulate neuromuscular junction formation in zebrafish models of human myasthenic syndromes
44. Translating discovery science into treatments for patients: observational cohort studies at the MRC Centre for Neuromuscular Diseases
45. Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey
46. Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne
47. Molecular characterization of congenital myasthenic syndromes in Spain
48. Failure to attend neuromuscular clinic appointments: reasons and interventions
49. GNE-myopathy (HIBM): Upper and lower extremity muscle strength declines over time in a prospective study
50. Longitudinal proteomic analysis of sera allows to non-invasively monitor disease progression in Duchenne muscular dystrophy
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