1,483 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. Molecular characterization of congenital myasthenic syndromes in Spain
8. Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations
9. Expanding SNX14-Associated Movement Disorders in a Genotype–Phenotype Spectrum.
10. Ocular Myasthenia: It's Worth a Second Look.
11. Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood
12. VP.20 Cathepsin D as biomarker in CSF of nusinersen-treated patients with spinal muscular atrophy
13. 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
14. P.98 Calculating the genetic prevalence of congenital myasthenic syndromes based on data from genomic databases
15. FP.21 Congenital myasthenic syndrome with Desmin aggregates: A novel association in recessive desminopathies due to a recurrent intronic DES mutation
16. P.203 Biomarkers for central nervous system involvement in Myotonic dystrophy type 1
17. 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
18. P.90 Understanding the role of GFPT1 in congenital myasthenic syndromes
19. I.01Congenital myasthenic syndromes
20. P.83 Molecular pathology of human PPP1R21 deficiency
21. Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease
22. MRC Centre for Neuromuscular Diseases 1st (1st December 2010), and 2nd (2nd May 2012) myotonic dystrophy workshops, London, UK and the myotonic dystrophy standards of care and national registry meeting, Newcastle, UK July 2011
23. KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors
24. Modafinil for excessive daytime sleepiness in myotonic dystrophy type 1 – The patients’ perspective
25. Long-term effect of nusinersen treatment on motor, respiratory and bulbar function in children with SMA type 1 : A 3-year SMArtCARE registry study
26. Biomarkers for central nervous system involvement in Myotonic dystrophy type 1
27. Serum miRNAs as biomarkers for the rare types of muscular dystrophy
28. Cathepsin D as biomarker in CSF of nusinersen-treated patients with spinal muscular atrophy
29. Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights
30. Molecular pathology of human PPP1R21 deficiency
31. A Review of International Biobanks and Networks: Success Factors and Key Benchmarks—A 10-Year Retrospective Review
32. Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD)
33. Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK
34. DMD - BIOMARKERS
35. NEW GENES AND DISEASES
36. REGISTRIES AND CARE OF NMD
37. REGISTRIES AND CARE OF NMD
38. Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations
39. Radiation Dose and Second Cancer Risk in Patients Treated for Cancer of the Cervix
40. Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada
41. Expression of Periostin in DMD patients and mdx mice
42. EP.305 Homozygous WASHC4 variant in two sisters causes a syndromic phenotype with skeletal muscle involvement
43. Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading
44. High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany
45. Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a ‘Treatabolome’
46. Combined protein and transcript studies identify periostin as a DMD tissue and blood marker protein
47. SMArtCARE : Real-world-data collection of patients with spinal muscular atrophy
48. Fibroblasts as a suitable biomaterial to study the etiology of neuromuscular diseases
49. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
50. Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy
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