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Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features.
- Published in:
- Acta Neurologica Belgica, 2022, v. 122, n. 4, p. 939, doi. 10.1007/s13760-021-01721-2
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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.
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- 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.
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- Acta Neurologica Belgica, 2020, v. 120, n. 6, p. 1411, doi. 10.1007/s13760-020-01441-z
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- Publication type:
- Article
A novel pathogenic variant in the 3ʹ end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?
- Published in:
- Neurogenetics, 2021, v. 22, n. 2, p. 127, doi. 10.1007/s10048-021-00643-8
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- Publication type:
- Article
Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family.
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- Neurogenetics, 2020, v. 21, n. 1, p. 51, doi. 10.1007/s10048-019-00595-0
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- Publication type:
- Article
The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype.
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- Neurogenetics, 2020, v. 21, n. 1, p. 73, doi. 10.1007/s10048-019-00594-1
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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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- Publication type:
- Article
Phenotypic and Genotypic Analysis of Hereditary Ataxia Patients in Sakarya City, Turkey.
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- Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2019, v. 56, n. 2, p. 106, doi. 10.5152/npa.2017.20525
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- Article
A Turkish Family with a Familial ALS-positive UBQLN2-S340I Mutation.
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- 2016
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- Publication type:
- Letter to the Editor
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.
- Published in:
- 2019
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- Publication type:
- case study
α‐Synuclein Pathology in PRKN‐Linked Parkinson's Disease: New Insights from a Blood‐Based Seed Amplification Assay.
- Published in:
- Annals of Neurology, 2024, v. 95, n. 6, p. 1173, doi. 10.1002/ana.26917
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- Publication type:
- Article
Using global team science to identify genetic parkinson's disease worldwide.
- Published in:
- 2019
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- Publication type:
- editorial
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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- Publication type:
- Article
Adult-Onset Treatable Leukodystrophy: Cerebrotendinous Xanthomatosis.
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- Neuropsychiatric Investigation, 2022, v. 60, n. 4, p. 106, doi. 10.5152/NeuropsychiatricInvest.2022.22008
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- Publication type:
- Article
The Molecular Landscape of ALS in Türkiye.
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- Gazi Medical Journal, 2024, v. 35, p. 10
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- Publication type:
- Article
Evaluation of the Cases with Friedreich Ataxia.
- Published in:
- Gulhane Medical Journal, 2013, v. 55, n. 2, p. 123, doi. 10.5455/gulhane.39786
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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.
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- Neurodegenerative Diseases, 2018, v. 18, n. 1, p. 38, doi. 10.1159/000486201
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- Publication type:
- 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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- Publication type:
- Article
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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- Publication type:
- Article
A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.
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- Neurological Sciences, 2021, v. 42, n. 4, p. 1535, doi. 10.1007/s10072-020-04869-6
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- Publication type:
- Article
Genome-Wide Copy Number Variation in Sporadic Amyotrophic Lateral Sclerosis in the Turkish Population: Deletion of EPHA3 Is a Possible Protective Factor.
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- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0072381
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- Publication type:
- Article
ATXN2 and Its Neighbouring Gene SH2B3 Are Associated with Increased ALS Risk in the Turkish Population.
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- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042956
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- Publication type:
- Article
Differentiated proteome pattern of genetic absence epilepsy rats treated with ketogenic diet.
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- Anatomy: International Journal of Experimental & Clinical Anatomy, 2022, v. 16, p. 243, doi. 10.2399/ana.22.003s
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- Publication type:
- 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
The complex biology of ALS and G93A rats as models of disease.
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- Anatomy: International Journal of Experimental & Clinical Anatomy, 2019, v. 13, n. S1, p. S10
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- Publication type:
- Article
Identification of a novel gene in Brown-Vialetto-Van Laere syndrome.
- Published in:
- 2018
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- Publication type:
- 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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- Publication type:
- Article
Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family".
- Published in:
- Movement Disorders, 2023, v. 38, n. 8, p. 1575, doi. 10.1002/mds.29552
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
SOD1 (L144F) ve C9orf72 Gen Mutasyonları Saptanan İki Aile ve Amiyotrofik Lateral Skleroza Genel Bakış.
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- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2018, v. 24, n. 2, p. 159, doi. 10.4274/tnd.26214
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- Article
TDP-43 Proteinopathies: A New Player in Neurodegenerative Diseases with Defective Protein Folding.
- Published in:
- 2012
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- Publication type:
- Journal Article
TDP-43 Proteinopatileri: Nrodejeneratif Konformasyon Bozukluğu Hastalıklarında Yeni Bir Oyuncu.
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- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2012, v. 18, n. 1, p. 1, doi. 10.4274/Tnd.58561
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- Publication type:
- Article
Dentatorubral pallidoluysian atrophy in a Turkish family.
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- 2009
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- Publication type:
- Case Study
Novel variants broaden the phenotypic spectrum of PLEKHG5‐associated neuropathies.
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- European Journal of Neurology, 2021, v. 28, n. 4, p. 1344, doi. 10.1111/ene.14649
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- Publication type:
- Article
Both Ubiquitin Ligases FBXW8 and PARK2 Are Sequestrated into Insolubility by ATXN2 PolyQ Expansions, but Only FBXW8 Expression Is Dysregulated.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0121089
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- Publication type:
- Article
Spinocerebellar Ataxia Type 2 in a Turkish Family.
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- Journal of Child Neurology, 2007, v. 22, n. 7, p. 891, doi. 10.1177/0883073807304702
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- Publication type:
- Article