196 results on '"Kiuru-Enari, Sari"'
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2. Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study
3. Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease
4. Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families
5. Screening for late-onset Pompe disease in Finland
6. Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: A follow-up muscle MRI study
7. Relation of gelsolin amyloidosis and periodontal health
8. FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study
9. Progressive cranial nerve involvement and grading of facial paralysis in gelsolin amyloidosis
10. A new distal myopathy with mutation in anoctamin 5
11. Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland
12. Hereditary gelsolin amyloidosis mimicking Sjögren’s syndrome
13. Cardiac manifestations in Finnish gelsolin amyloidosis patients
14. Hereditary gelsolin amyloidosis
15. A NOVEL MUTATION OF THE GAA GENE IN A FINNISH LATE-ONSET POMPE DISEASE PATIENT: CLINICAL PHENOTYPE AND FOLLOW-UP WITH ENZYME REPLACEMENT THERAPY
16. Outcome of Renal Transplant in Hereditary Gelsolin Amyloidosis
17. Amyloidosis-related nephrotic syndrome due to a G654A gelsolin mutation: the first report from the Middle East
18. Patients with a Non-dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect
19. Neuromuscular Pathology in Hereditary Gelsolin Amyloidosis
20. Severe elastolysis in hereditary gelsolin (AGel) amyloidosis
21. Amyloid in parenchymal organs in gelsolin (AGel) amyloidosis
22. Severe elastolysis in hereditary gelsolin (AGel) amyloidosis.
23. Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
24. Meretojan taudista uutta tietoa kansallisen potilasrekisterin avulla
25. Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families
26. A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome
27. Decreased Aerobic Capacity in ANO5-Muscular Dystrophy
28. Decreased Aerobic Capacity in ANO5-Muscular Dystrophy
29. Increasing amount of amyloid are associated with the severity of clinical features in hereditary gelsolin (AGel) amyloidosis
30. Gelsolin amyloid angiopathy causes severe disruption of the arterial wall
31. Causes of death and life span in Finnish gelsolin amyloidosis
32. Chapter 39 - Hereditary gelsolin amyloidosis
33. A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome
34. Gender differences in the clinical course of Finnish gelsolin amyloidosis
35. Natural course of Finnish gelsolin amyloidosis
36. CHCHD10variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease
37. Investigation of AGE, their receptor and NF-KB activation and apoptosis in patients with ATTR and Gelsolin amyloidosis
38. Subtle neuropsychiatric and neurocognitive changes in hereditary gelsolin amyloidosis (AGel amyloidosis)
39. Relation of gelsolin amyloidosis and periodontal health
40. Atrial fibrillation is poorly tolerated by patients with hypertrophic concentric cardiomyopathy caused by mitochondrial tRNALeu (UUR) mutations
41. Faculty of 1000 evaluation for Kambin triangle versus the supraneural approach for the treatment of lumbar radicular pain.
42. Faculty of 1000 evaluation for Efficacy of early treatment with carbamazepine in prevention of neuropathic pain in patients with spinal cord injury.
43. Faculty of 1000 evaluation for Pharmacological treatment for pain in Guillain-Barré syndrome.
44. Faculty of 1000 evaluation for Chinese herbal medicine for diabetic peripheral neuropathy: an updated meta-analysis of 10 high-quality randomized controlled studies.
45. Faculty Opinions recommendation of Prolonged release oxycodone-naloxone for treatment of severe restless legs syndrome after failure of previous treatment: a double-blind, randomised, placebo-controlled trial with an open-label extension.
46. Faculty of 1000 evaluation for Manual acupuncture for treatment of diabetic peripheral neuropathy: a systematic review of randomized controlled trials.
47. Faculty Opinions recommendation of Methylprednisolone injections for the carpal tunnel syndrome: a randomized, placebo-controlled trial.
48. Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1
49. Atrial Fibrillation Is Poorly Tolerated by Patients with Hypertrophic Concentric Cardiomyopathy Caused by Mitochondrial tRNALeu (UUR) Mutations
50. Faculty Opinions recommendation of Daily repetitive transcranial magnetic stimulation of primary motor cortex for neuropathic pain: a randomized, multicenter, double-blind, crossover, sham-controlled trial.
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