49 results on '"Vorgerd M"'
Search Results
2. Generation of two induced pluripotent stem cell lines (HIMRi006-A and HIMRi007-A) from Pompe patients with infantile and late disease onset
3. Generation of two hiPSCs lines of two patients carrying truncating mutations in the dimerization domain of filamin C
4. Corneal confocal microscopy detects damage to the subbasal corneal nerve plexus in patients with chronic inflammatory demyelinating polyneuropathy
5. Generation of two human iPSC lines (HIMRi002-A and HIMRi003-A) derived from Caveolinopathy patients with rippling muscle disease
6. Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy
7. O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
8. P171 LiBi-NMD: liquid biopsies in neuromuscular diseases – the underrated value of white blood cells
9. Facing the genetic heterogeneity in neuromuscular disorders: Linkage analysis as an economic diagnostic approach towards the molecular diagnosis
10. P.206 Diffusion tensor imaging (mDTI) in myotonic dystrophy type 1 and type 2
11. P.159 Correlation of clinical outcome parameters in patients with LGMDR1 with quantitative muscle MRI of the leg muscles
12. FP.17 Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02)
13. P.30 Correlation of histopathological skeletal muscle biopsy features with quantitative muscle-MRI parameters
14. P 89 Evaluating correlations of muscle MRI derived fat fractions of leg muscles and clinical outcome measurements in patients with LGMD2A
15. Mitochondrial impairment of human muscle in Friedreich ataxia in vivo
16. P.120EUROMAC: A European registry for patients with McArdle disease and other very rare muscle glycogenoses
17. FV 49 Fast-myosin myopathy as a rare cause of external ophthalmoplegia and severe myopathy with tetraparesis
18. P.99 - Reliability of DTI-based muscle-volumetry as compared to conventional T1-based manual segmentation
19. P.396 - Autoimmune rippling muscle disease: IgG antibodies bind to human muscle fibers
20. FV 9. Diffusion Tensor Imaging in Neuromuscular diseases - A novel method for quantification of muscle degeneration in myopathy patients
21. G.P.199 - Roles of hypoxia and innate immune mechanisms in juvenile and adult dermatomyositis
22. G.P.256: The German patient registry for inclusion body myositis
23. G.P.245: Exercise related muscle disorders: The EUROMAC Registry for McArdle disease and other rare glycogenolytic disorders
24. A.P.2: Proteomic profile of cytoplasmic bodies (CB) compared to non-CB aggregates in HMERF associated with mutations in A-band titin
25. A.P.3: Unusual extraskeletal involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies
26. A.P.1: Proteomic analysis in 72 myofibrillar myopathy (MFM) patients identifies new disease-relevant proteins accumulating in aggregates and reveals subtype-specific proteomic profiles
27. G.P.69: Th2-M2 immunity in granulomas of neuromuscular sarcoidosis and macrophagic myofasciitis
28. G.P.64: Proteomic analysis of rimmed vacuoles in sporadic inclusion body myositis (sIBM)
29. P70 EUROMAC: Disease registry for McArdle disease and other pure muscle glycogenolytic disorders presenting with exercise intolerance
30. P.21.3 Skeletal muscle provides a permissive environment for Th2-M2 polarisation in neuromuscular sarcoidosis
31. P.15.6 Desminopathy or myotilinopathy? An integrated proteomics approach for diagnosis
32. O.4 Proteomic analysis confirms that HMERF associated with mutations in A-band titin is a new subtype of myofibrillar myopathies
33. G.O.5 Deciphering protein aggregates in myofibrillar myopathies – A proteomics approach
34. G.P.57 Differential proteomic analysis of protein aggregates in desminopathy
35. P5.56 Myofibrillar myopathy associated with filamin C mutations: Refining the phenotype and new insights in pathogenesis
36. P5.57 Proteomic analysis of protein aggregates in filaminopathy
37. P3.54 Creatine for treating muscle disorders: meta-analysis of randomised controlled trials
38. G.P.14.12 Phenotype of three putative novel limb girdle muscular dystrophies (LGMD) – Exclusion of all known LGMD loci with microsatellite analysis
39. G.O.1 The phenotype of myofibrillar myopathy associated with p.W2710X mutation in filamin C: A study of 31 German patients
40. C.P.4.02 Muscle imaging differentiates primary desminopathies from myofibrillar myopathies
41. C.P.4.01 Clinical and cardiac MRI findings in primary desminopathies
42. G.P.8 08 Identification of a desmin gene mutation in scapuloperoneal syndrome type Kaeser
43. P.P.4 07 Phenotype and muscle biopsy findings in the first German patient with limb-girdle muscular dystrophy 2K – Important differential diagnosis of Becker muscular dystrophy
44. P03.9 Muscular hypotonia, joint contractures and elevated creatin kinase level as main symptoms for Congenital muscular dystrophy 1A (with laminin alpha-2-deficiency).
45. Impaired aerobic glycolysis in muscle phosphofructokinase deficiency results in biphasic post-exercise phosphocreatine recovery in 31P magnetic resonance spectroscopy
46. Muscle phosphofructokinase deficiency in two generations
47. 651VP Quantitative MRI pre- and post-skeletal muscle biopsy reveals correlations with histopathological findings.
48. 31P-NMR spectroscopy in muscle phosphofructokinase deficiency
49. Motor cortex excitability and post-exercise fatigue in muscular dystrophy and fibromyalgia syndrome: a transcranial magnetic stimulation study
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