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38 results on '"Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 '

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1. Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report

2. Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival

3. Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data

4. Adult-onset treatable leukodystrophy: cerebrotendinous xanthomatosis

5. The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

6. Evaluation of the hematological and serum biochemistry parameters in the pre-symptomatic and symptomatic stages of ALS disease to support early diagnosis and prognosis

7. Electrophysiological characteristics of autosomal-recessive spastic ataxia of Charlevoix-Saguenay in a Turkish family

8. Comprehensive research on past and future therapeutic strategies devoted to treatment of amyotrophic lateral sclerosis

9. Impact of the amyotrophic lateral sclerosis disease on the biomechanical properties and oxidative stress metabolism of the lung tissue correlated with the human mutant SOD1(G93A) protein accumulation

10. Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

11. Natural history, phenotypic spectrum, and discriminative features of multisystemic RFC1 disease

12. The ARCA Registry: a collaborative global platform for advancing trial readiness in autosomal recessive cerebellar ataxias

13. A rare case of juvenile amyotrophic lateral sclerosis

14. LIPAD (LRRK2/Luebeck International Parkinson's Disease) study protocol: deep phenotyping of an international genetic cohort

15. Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis

16. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

17. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

18. The effect of SMN gene dosage on ALS risk and disease severity

19. Human CRY1 variants associate with attention deficit/hyperactivity disorder

20. Revisiting the complex architecture of ALS in Turkey: expanding genotypes, shared phenotypes, molecular networks, and a public variant database

21. Clinico-genetic, imaging and molecular delineation of COQ8A-ataxia: a multicenter study of 59 patients

22. Reply to letter to the editor by De Michele et al

23. Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology

24. Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

25. The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

26. Human CRY1 variants associate with attention deficit/hyperactivity disorder

27. Impact of the Amyotrophic Lateral Sclerosis Disease on the Biomechanical Properties and Oxidative Stress Metabolism of the Lung Tissue Correlated With the Human Mutant SOD1G93A Protein Accumulation

28. Comprehensive research on past and future therapeutic strategies devoted to treatment of amyotrophic lateral sclerosis

29. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

30. Evaluation of the Hematological and Serum Biochemistry Parameters in the Pre-Symptomatic and Symptomatic Stages of ALS Disease to Support Early Diagnosis and Prognosis

31. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

32. A rare case of juvenile amyotrophic lateral sclerosis

33. LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol : Deep Phenotyping of an International Genetic Cohort

34. Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

35. Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease

36. The effect of SMN gene dosage on ALS risk and disease severity

37. Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients

38. Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology

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