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Case report: Revealing the rare--a Brody Disease patient from Turkey expanding the phenotype.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1289312
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- Article
Comprehensive Research on Past and Future Therapeutic Strategies Devoted to Treatment of Amyotrophic Lateral Sclerosis.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 5, p. 2400, doi. 10.3390/ijms23052400
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- Article
Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family.
- Published in:
- Türkiye Klinikleri Journal of Case Reports, 2020, v. 28, n. 4, p. 283, doi. 10.5336/caserep.2020-75076
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- Article
A rare case of juvenile amyotrophic lateral sclerosis.
- Published in:
- Turkish Journal of Pediatrics, 2021, v. 63, n. 3, p. 495, doi. 10.24953/turkjped.2021.03.017
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- Article
The role of the oxidative stress metabolism in the central nervous system at the pre-symptomatic and symptomatic stages of the ALS disease.
- Published in:
- 2022
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- Abstract
Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.
- Published in:
- Acta Neurologica Scandinavica, 2022, v. 145, n. 5, p. 619, doi. 10.1111/ane.13592
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- Article
ELECTROPHYSIOLOGICAL CHARACTERISTICS OF AUTOSOMAL-RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY IN A TURKISH FAMILY.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2022, v. 85, n. 2, p. 275, doi. 10.26650/IUITFD.984032
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- Article
Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2.
- Published in:
- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2022, v. 28, n. 1, p. 57, doi. 10.4274/tnd.2022.00483
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- Publication type:
- Article