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A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
SOD1 (L144F) ve C9orf72 Gen Mutasyonları Saptanan İki Aile ve Amiyotrofik Lateral Skleroza Genel Bakış.
- Published in:
- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2018, v. 24, n. 2, p. 159, doi. 10.4274/tnd.26214
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- Publication type:
- Article
Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2.
- Published in:
- Neurodegenerative Diseases, 2018, v. 18, n. 1, p. 38, doi. 10.1159/000486201
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- Publication type:
- Article
The Molecular Landscape of ALS in Türkiye.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 10
- By:
- Publication type:
- Article
Clinical and molecular characterization and response to acitretin in three families with Sjögren‐Larsson syndrome.
- Published in:
- International Journal of Dermatology, 2018, v. 57, n. 7, p. 843, doi. 10.1111/ijd.14013
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- Publication type:
- Article
A combined clinical and computational approach to understand the SOD1<sup>A4T</sup>-mediated pathogenesis of rapidly progressive familial amyotrophic lateral sclerosis.
- Published in:
- Acta Neurologica Belgica, 2022, v. 122, n. 4, p. 955, doi. 10.1007/s13760-020-01588-9
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- Publication type:
- Article
Phenotypic and genotypic features of patients diagnosed with ALS in the city of Sakarya, Turkey.
- Published in:
- Acta Neurologica Belgica, 2020, v. 120, n. 6, p. 1411, doi. 10.1007/s13760-020-01441-z
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- Publication type:
- Article
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.
- Published in:
- Movement Disorders, 2021, v. 36, n. 7, p. 1676, doi. 10.1002/mds.28518
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- Publication type:
- Article
Outside Back Cover, Volume 41, Issue 8.
- Published in:
- Human Mutation, 2020, v. 41, n. 8, p. iv, doi. 10.1002/humu.24087
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- Publication type:
- Article
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.
- Published in:
- Human Mutation, 2020, v. 41, n. 8, p. e7, doi. 10.1002/humu.24055
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- Publication type:
- Article