1,368 results on '"Lochmüller, H."'
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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. Expanding SNX14-Associated Movement Disorders in a Genotype–Phenotype Spectrum.
8. Ocular Myasthenia: It's Worth a Second Look.
9. Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood
10. VP.20 Cathepsin D as biomarker in CSF of nusinersen-treated patients with spinal muscular atrophy
11. 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
12. P.98 Calculating the genetic prevalence of congenital myasthenic syndromes based on data from genomic databases
13. FP.21 Congenital myasthenic syndrome with Desmin aggregates: A novel association in recessive desminopathies due to a recurrent intronic DES mutation
14. P.203 Biomarkers for central nervous system involvement in Myotonic dystrophy type 1
15. 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
16. P.90 Understanding the role of GFPT1 in congenital myasthenic syndromes
17. I.01Congenital myasthenic syndromes
18. P.83 Molecular pathology of human PPP1R21 deficiency
19. Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease
20. KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors
21. Cathepsin D as biomarker in CSF of nusinersen-treated patients with spinal muscular atrophy
22. Long-term effect of nusinersen treatment on motor, respiratory and bulbar function in children with SMA type 1 : A 3-year SMArtCARE registry study
23. Biomarkers for central nervous system involvement in Myotonic dystrophy type 1
24. Serum miRNAs as biomarkers for the rare types of muscular dystrophy
25. Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights
26. Molecular pathology of human PPP1R21 deficiency
27. Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK
28. DMD - BIOMARKERS
29. NEW GENES AND DISEASES
30. REGISTRIES AND CARE OF NMD
31. REGISTRIES AND CARE OF NMD
32. A Review of International Biobanks and Networks: Success Factors and Key Benchmarks—A 10-Year Retrospective Review
33. Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada
34. EP.305 Homozygous WASHC4 variant in two sisters causes a syndromic phenotype with skeletal muscle involvement
35. Expression of Periostin in DMD patients and mdx mice
36. Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading
37. High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany
38. Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a ‘Treatabolome’
39. Combined protein and transcript studies identify periostin as a DMD tissue and blood marker protein
40. SMArtCARE : Real-world-data collection of patients with spinal muscular atrophy
41. Fibroblasts as a suitable biomaterial to study the etiology of neuromuscular diseases
42. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
43. Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy
44. Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome
45. Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency
46. Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs
47. The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry
48. U7 snRNAs induce correction of mutated dystrophin pre-mRNA by exon skipping
49. Screening for Carnitine Palmitoyltransferase II Deficiency by Tandem Mass Spectrometry
50. Limb Girdle Muscular Dystrophies
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