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1,177 results on '"Stojkovic T"'

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8. P69 Scoping review on the assessment tools used on SMA adolescent and adult patients

9. P156 Muscle biopsy findings in a large cohort of patients affected by valosin containing protein disease: preliminary analysis of the international multicentric VCP study

10. P281 Quality of life in adults with dysferlinopathy: international clinical outcome study of dysferlinopathy

11. P338 Clinical, morphological, and proteomic features of patients suspected of X-linked myopathy with excessive autophagy (XMEA)

13. VP429 Impaired skeletal muscle strength in adult patients with laminopathies

14. P70 What are the priorities of adolescents and adults with SMA and their health care practitioners toward evaluation? A French qualitative study

15. P283 Natural history of limb girdle muscular dystrophy R9: one-year follow-up of a European cohort

16. P158 Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features

18. P125 Quantitative MRI in upper limb muscles of patients with dysferlinopathy: 6-months and 12-months longitudinal data from the natural history Jain COS 2 project

20. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

25. Strategy for genetic analysis in hereditary neuropathy

26. Prognosis of right ventricular systolic dysfunction in Duchenne muscular dystrophy patients

27. Prediction of cardiac outcomes in 600 adult patients with mitochondrial diseases

28. Myofibrillar myopathies: State of the art, present and future challenges

30. P.163 Quantitative MRI in upper limb muscle of patients with dysferlinopathy: preliminary baseline results of the natural history study Jain COS2

31. FP.34 Clinical outcome study of dysferlinopathy: correlation between MRI fat fraction in lower limbs and clinical outcome assessments over a 3-year period

32. P.157 Dominant HSPB6 mutation in a myopathy patient

34. P.178 Clinical classification of variants in the valosin containing protein gene associated with multisystem proteinopathy

35. P.165 Clinical outcome study of dysferlinopathy: Lower limb water T2 predicts functional decline in patients with dysferlinopathy

36. FP.35 Myostatin concentration is unreliable as a biomarker of disease progression in dysferlinopathy

38. Objective evaluation of clinical actionability for genes involved in myopathies: 63 genes with a medical value for patient care

43. Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach

48. Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1)

50. CHANNELOPATHIES AND RELATED DISORDERS

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