114 results on '"Haberlová J"'
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2. Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.
3. Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic
4. Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom
5. P86 Longitudinal multi-centric study to assess the digital outcomes issued from wearable magneto-inertial devices in ambulant DMD
6. P218 Patients’ perceptions of the effects of Spinraza according to their status as a responder or non-responder
7. P150 Factors affecting the measurement variability of SV95C in ambulant patients with Duchenne muscular dystrophy
8. P145 Analysis of the natural evolution of SV95C in ambulant patients with Duchenne muscular dystrophy
9. High frequency of SH3TC2 mutations in Czech HMSN I patients
10. Demyelinating Charcot–Marie–Tooth neuropathy associated with FBLN5 mutations
11. Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene
12. FP.27 Results of a double-blind cross-over trial of vamorolone in DMD: A safer alternative to corticosteroids
13. P.71 Vamorolone has less impact than daily prednisone or deflazacort on height and body mass index in patients with Duchenne muscular dystrophy (DMD)
14. Český národní registr Guillainova-Barrého syndromu
15. Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype
16. Charakteristika souboru chlapců s Duchennovou a Beckerovou svalovou dystrofií - studie z jednoho nervosvalového centra.
17. Muscle MR pattern of partial Laminin α2 deficient patients and its role in diagnostic algorithms
18. Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic
19. HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL
20. Léčba spinální svalové atrofie.
21. Hodnotící škály a testy pro dětské pacienty se spinální muskulární atrofií.
22. Diagnostic difficulties in muscular dystrophy due to LAMA2 mutations – A case report of affected father and his son
23. Evaluation and Treatment of Myopathies
24. Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients
25. P.108 - Czech national registry of facioscapulohumeral muscular dystrophy
26. Český národní registr Guil lainova-Barrého syndromu.
27. Úskalí dia gnostiky atypické formy kongenitální svalové dystrofie - parciálního defi citu merosinu - kazuistiky.
28. Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom
29. 5. Electrophysiological features of peripheral and central nervous system in hereditary neuropathy Charcot Marie Tooth linked to X chromosome
30. P.123 - Atypical phenotype of DMD carrier
31. Phenotypic Variability in a Large Czech Family with a Dynamin 2–Associated Charcot-Marie-Tooth Neuropathy
32. G.P.277 - Diagnostic difficulties in muscular dystrophy due to LAMA2 mutations – A case report of affected father and his son
33. Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene
34. FP54-FR-03 Distal hereditary motor neuropathy in a large Czech family: clinical and electrophysiological study
35. Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy – A new distal hereditary motor neuropathy phenotype
36. Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy
37. G.P.250: Czech national registries of hereditary neuromuscular disorders
38. G.P.37: Clinical overlap between centronuclear myopathy and axonal neuropathy (CMT2) due to mutation in DNM2 gene
39. P58 Psycho-organic symptoms as early manifestation of adult onset POMT1-related muscular dystrophy
40. X-linked myotubular myopathy: A novel mutation in the MTM-1 gene - Case reports | X-vázaná myotubulární myopatie u dvou bratrů v důsledku nové mutace v MTM 1 genu - Kazuistiky
41. 308P Nephrological parameters in boys with Muscular Dystrophy.
42. 193P Use of European rare disease registries to describe the natural history and disease progression of spinal muscular atrophy (SMA) over time.
43. 186P Demographic and clinical characteristics of risdiplam-treated and untreated adult patients with SMA.
44. Patients' Perceptions of Nusinersen Effects According to Their Responder Status.
45. Compound heterozygous variants in MYBPC1 lead to severe distal arthrogryposis type-1 manifestations.
46. Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.
47. Decreased quality of life in Duchenne muscular disease patients related to functional neurological and cardiac impairment.
48. Genetic findings in Czech patients with limb girdle muscular dystrophy.
49. Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.
50. Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.
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