266 results on '"Topaloğlu, Haluk"'
Search Results
2. Sleep quality and daytime sleepiness amongst family caregivers of children with Spinal Muscular Atrophy
3. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial
4. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial
5. Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature
6. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go
7. The Common miRNA Signatures Associated with Mitochondrial Dysfunction in Different Muscular Dystrophies
8. Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel
9. Recurrent vomiting in Panayiotopoulos syndrome
10. The congenital muscular dystrophies
11. Smartphone measures motor and respiratory function in spinal muscular atrophy
12. Neuromuscular disease genetics in under-represented populations: increasing data diversity
13. Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study
14. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
15. Challenges in pediatric chronic inflammatory demyelinating polyneuropathy
16. Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4
17. Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
18. High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy
19. Corrigendum to ‘The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever’ [Neuromuscular Disorders 32 (2022) 575–577]
20. Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey
21. Reply to Tzoulis et al. : Genetic and clinical heterogeneity of essential tremor
22. Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease
23. The complex genetic inheritance of Anatolia, Turkey
24. Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy
25. The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever
26. Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies
27. High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy.
28. Ultrasonographic assessment of lower limb muscle architecture in children with early-stage Duchenne muscular dystrophy
29. The effect of aerobic training on motor function and muscle architecture in children with Duchenne muscular dystrophy: A randomized controlled study
30. Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry
31. Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach
32. New treatments in neuromuscular disorders
33. Update on congenital myopathies and congenital muscular dystrophies
34. RNA-based treatments in spinal muscular atrophy
35. Duchenne musküler distrofi’de üst ekstremite dinamik egzersizinin solunum fonksiyonu ve yaşam kalitesi üzerine etkisi
36. FARKLI NÖROMUSKÜLER HASTALIKLARDA AYAK BİLEĞİ LİMİTASYONUNUN YÜRÜME BECERİSİ ÜZERİNE ETKİSİ: ARAŞTIRMA MAKALESİ
37. Different types of upper extremity exercise training in Duchenne muscular dystrophy: Effects on functional performance, strength, endurance, and ambulation
38. The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
39. Effect of muscle weakness distribution on balance in neuromuscular disease
40. Genetic Landscape of Dystrofin Gene Deletions and Duplications From Turkey: A Single Center Experience
41. A preliminary report on spinal muscular atrophy lymphoblastoid cell lines: Are they an appropriate tool for drug screening?
42. The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia
43. The association between trunk control and upper limb functions of children with Duchenne muscular dystrophy.
44. A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy
45. Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature
46. A Novel Amplification-Refractory Mutation System-PCR Strategy to Screen MT-TL1 Pathogenic Variants in Patient Repositories
47. The association between trunk control and upper limb functions of children with Duchenne muscular dystrophy
48. Lissencephaly type II
49. Prenatal diagnosis of muscle-eye-brain disease
50. Assessment of left ventricular systolic and diastolic functions in children with merosin-positive congenital muscular dystrophy
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