Found: 15
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Varied phenotypic spectrum presenting of paroxysmal exercise–induced dyskinesia: a Turkish family with SLC2A1 mutation.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 11, p. 4751, doi. 10.1007/s10072-021-05466-x
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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
Successful infliximab treatment in siblings with Netherton syndrome: Unveiling a novel SPINK5 gene variant and literature review.
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- Australasian Journal of Dermatology, 2024, v. 65, n. 3, p. e45, doi. 10.1111/ajd.14234
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- Article
Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2.
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- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2022, v. 28, n. 1, p. 57, doi. 10.4274/tnd.2022.00483
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- Article
ELECTROPHYSIOLOGICAL CHARACTERISTICS OF AUTOSOMAL-RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY IN A TURKISH FAMILY.
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- 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
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.710572
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- Article
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.
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- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 281, doi. 10.1038/ejhg.2012.170
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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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- Publication type:
- Abstract
A rare case of juvenile amyotrophic lateral sclerosis.
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- Turkish Journal of Pediatrics, 2021, v. 63, n. 3, p. 495, doi. 10.24953/turkjped.2021.03.017
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- Article
Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.
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- Acta Neurologica Scandinavica, 2022, v. 145, n. 5, p. 619, doi. 10.1111/ane.13592
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- Article
Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX).
- Published in:
- Movement Disorders, 2024, v. 39, n. 9, p. 1544, doi. 10.1002/mds.29876
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- Article
MRI‐ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.
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- Movement Disorders, 2024, v. 39, n. 8, p. 1343, doi. 10.1002/mds.29871
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- Article
Evaluation of the Hematological and Serum Biochemistry Parameters in the Pre-Symptomatic and Symptomatic Stages of ALS Disease to Support Early Diagnosis and Prognosis.
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- Cells (2073-4409), 2022, v. 11, n. 22, p. 3569, doi. 10.3390/cells11223569
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- Article
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
Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family.
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- Türkiye Klinikleri Journal of Case Reports, 2020, v. 28, n. 4, p. 283, doi. 10.5336/caserep.2020-75076
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- Article