131 results on '"Durmuş, Hacer"'
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2. Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features
3. Clinical and genetic characteristics of Emery-Dreifuss muscular dystrophy patients from Turkey: 30 years longitudinal follow-up study
4. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study
5. In vitro modulation of T cells in myasthenia gravis by low‐dose IL‐2.
6. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
7. Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort
8. Increased costimulatory molecule expression of thymic and peripheral B cells and a sensitivity to IL-21 in myasthenia gravis
9. Repetitive nerve stimulation and jitter measurement with disposable concentric needle electrode in newly diagnosed myasthenia gravis patients
10. Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up
11. The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype
12. A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID
13. A database for screening and registering late onset Pompe disease in Turkey
14. Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease
15. Phenotypic features of RETREG1‐related hereditary sensory autonomic neuropathy
16. Genetic heterogeneity within the HLA region in three distinct clinical subgroups of myasthenia gravis
17. Regulatory function of CD4+CD25++ T cells in patients with myasthenia gravis is associated with phenotypic changes and STAT5 signaling: 1,25-Dihydroxyvitamin D3 modulates the suppressor activity
18. A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia
19. Pembrolizumab-induced peripheral nervous system damage: A combination of myositis/myasthenia overlap syndrome and motor axonal polyneuropathy
20. Pembrolizumab-induced peripheral nervous system damage: A combination of myositis/ myasthenia overlap syndrome and motor axonal polyneuropathy.
21. Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis
22. Disease activity in chronic inflammatory demyelinating polyneuropathy: A comparative study of clinical and skin biopsy markers
23. Central Nervous System Involvement in HINT1 Neuropathy: An Overlooked Phenotypical Feature? (P8-13.001)
24. Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations
25. Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder
26. İlkokul 4. Sınıf Öğrencilerinin Çevreye İlişkin Algıları
27. An Exploratory Study of Cognitive Involvement in Hereditary Transthyretin Amyloidosis
28. The distinct genetic pattern of ALS in Turkey and novel mutations
29. Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features
30. The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice
31. Cover, Volume 41, Issue 8
32. EVALUATION OF REPETITIVE NERVE STIMULATION WITH DIFFERENT STIMULATION FREQUENCIES IN PATIENTS WITH MYASTHENIA GRAVIS
33. Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database
34. Revisiting the complex architecture of ALS in Turkey: expanding genotypes, shared phenotypes, molecular networks, and a public variant database
35. TH-153. Clinical and electrophysiological characteristics of Guillain-Barré Syndrome before and during the pandemic: The multicenter Istanbul study
36. The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype
37. Holistic Nursing Care for Hospitalized Type II Diabetes Patient: Case Report
38. Lumbar Spinal Stenosis: A Rare Presentation of Hereditary Transthyretin Amyloidosis.
39. Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients
40. Chapter 35 - Emery-Dreifuss Muscular Dystrophy: Nuclear Envelopathies
41. Jitter measurement with concentric needle in 133 patients with myasthenia gravis: a retrospective analysis
42. Neuromuscular endplate pathology in recessive desminopathies
43. A novel homozygous FBXO38variant causes an early-onset distal hereditary motor neuronopathy type IID
44. Vocal Cord Paralysis and Hypercapnic Respiratory Failure in a Patient with Familial Amyloidotic Polyneuropathy
45. Facial and Skeletal Muscle Magnetic Resonance Imaging In Oculopharyngodistal Myopathy
46. Tek Hemisferi Tutan Akut Dissemine Ensefalomiyelit: Olgu Sunumu
47. Sistemik lupus eritematozus ile ilişkili nadir nörolojik sendromların birlikteliği
48. Sensorimotor neuropathy associated with endometrioid endometrial carcinoma
49. Primary cerebral lymphoma with a 5-year remission to single-agent corticosteroids
50. List of Contributors
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