613 results on '"Vorgerd M"'
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2. SARS-CoV-2/COVID-19 und neuromuskuläre Erkrankungen: Bestandsaufnahme der DGN (Deutsche Gesellschaft für Neurologie) Kommission Motoneuron- und neuromuskuläre Erkrankungen
3. Muscle diffusion tensor imaging in glycogen storage disease V (McArdle disease)
4. Generation of two human iPSC lines (HIMRi002-A and HIMRi003-A) derived from Caveolinopathy patients with rippling muscle disease
5. O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
6. P171 LiBi-NMD: liquid biopsies in neuromuscular diseases – the underrated value of white blood cells
7. Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy
8. Value of Small Fiber Neuropathy in fibromyalgia patients in a rheumatological setting
9. POS0262 VALUE OF SMALL FIBER NEUROPATHY IN FIBROMYALGIA PATIENTS IN A RHEUMATOLOGICAL SETTING
10. Erratum zu: SARS-CoV-2/COVID-19 und neuromuskuläre Erkrankungen: Bestandsaufnahme der DGN (Deutsche Gesellschaft für Neurologie) Kommission Motoneuron- und neuromuskuläre Erkrankungen
11. P.30 Correlation of histopathological skeletal muscle biopsy features with quantitative muscle-MRI parameters
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.159 Correlation of clinical outcome parameters in patients with LGMDR1 with quantitative muscle MRI of the leg muscles
14. P.206 Diffusion tensor imaging (mDTI) in myotonic dystrophy type 1 and type 2
15. Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy
16. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
17. P 89 Evaluating correlations of muscle MRI derived fat fractions of leg muscles and clinical outcome measurements in patients with LGMD2A
18. Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease
19. Generation of two hiPSCs lines of two patients carrying truncating mutations in the dimerization domain of filamin C
20. Corneal confocal microscopy detects damage to the subbasal corneal nerve plexus in patients with chronic inflammatory demyelinating polyneuropathy
21. Diagnose und Therapie des Late-onset-Morbus-Pompe
22. Metabolische und mitochondriale Myopathien
23. Diffusion Tensor Imaging Shows Differences Between Myotonic Dystrophy Type 1 and Type 2
24. Therapiestandard bei Myositiden und Muskeldystrophien
25. EUROMAC: disease registry for McArdle disease and other pure muscle glycogenolytic disorders presenting with exercise intolerance: EP2147
26. Human myocytes are protected from titin aggregation-induced stiffening by small heat shock proteins: OS9-03
27. Molecular diagnosis of German patients with late-onset glycogen storage disease type II
28. Analysis of spectrum and frequencies of mutations in McArdle disease: Identification of 13 novel mutations
29. L-carnitine and creatine in Friedreich’s ataxia. A randomized, placebo-controlled crossover trial
30. Letale Kardiomyopathie bei adulter Polyglukosankörperkrankheit
31. Facing the genetic heterogeneity in neuromuscular disorders: Linkage analysis as an economic diagnostic approach towards the molecular diagnosis
32. Typ-I-Muskelfaseratrophie Wegweiser für die Diagnose einer myotonischen Muskeldystrophie mit ungewöhnlichem Phänotyp: Wegweiser für die Diagnose einer myotonischen Muskeldystrophie mit ungewöhnlichem Phänotyp
33. Adulte Polyglukosankörperkrankheit¶Fallbeispiel mit überwiegender Beteiligung des zentralen und peripheren Nervensystems und Branchingenzymdefekt in Leukozyten
34. Polymyositis of the skeletal muscles as an extraintestinal complication in quiescent ulcerative colitis
35. Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients
36. Adrenoleukodystrophie und Adrenomyeloneuropathie Klinische, biochemische und molekulargenetische Befunde: Klinische, biochemische und molekulargenetische Befunde
37. Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
38. Creatine treatment in muscle disorders: a meta-analysis of randomised controlled trials
39. Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P
40. Relevance of amyloid deposits in the ligamentum flavum and the spine muscle for the treatment of lumbar spinal stenosis
41. Diffusion tensor imaging reveals changes in non-fat infiltrated muscles in Late Onset Pompe Disease
42. Creatine has no beneficial effect on skeletal muscle energy metabolism in patients with single mitochondrial DNA deletions: a placebo-controlled, double-blind 31P-MRS crossover study
43. FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients
44. Speicherkrankheiten
45. Metabolische Myopathien
46. Creatine Therapy in Myophosphorylase Deficiency (McArdle Disease): A Placebo-Controlled Crossover Trial
47. Assessment of postexcitatory inhibition in patients with focal dystonia
48. Spinal MRI in progressive myeloneuropathy associated with vitamin E deficiency
49. FV 49 Fast-myosin myopathy as a rare cause of external ophthalmoplegia and severe myopathy with tetraparesis
50. MYH2-assoziierte Myosin-Myopathie – seltene Ursache einer externen Ophthalmoplegie mit Tetraparese
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