Found: 68
Select item for more details and to access through your institution.
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
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
- By:
- Publication type:
- Article
A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 4, p. 1535, doi. 10.1007/s10072-020-04869-6
- By:
- Publication type:
- Article
Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Occlusal Radiographs in a Turkish Pediatric Subpopulation.
- Published in:
- Acta Stomatologica Croatica, 2024, v. 58, n. 1, p. 52, doi. 10.15644/asc58/1/5
- By:
- Publication type:
- Article
Comprehensive Research on Past and Future Therapeutic Strategies Devoted to Treatment of Amyotrophic Lateral Sclerosis.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 5, p. 2400, doi. 10.3390/ijms23052400
- By:
- Publication type:
- Article
Successful infliximab treatment in siblings with Netherton syndrome: Unveiling a novel SPINK5 gene variant and literature review.
- Published in:
- Australasian Journal of Dermatology, 2024, v. 65, n. 3, p. e45, doi. 10.1111/ajd.14234
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
TDP-43 Proteinopathies: A New Player in Neurodegenerative Diseases with Defective Protein Folding.
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
TDP-43 Proteinopatileri: Nrodejeneratif Konformasyon Bozukluğu Hastalıklarında Yeni Bir Oyuncu.
- Published in:
- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2012, v. 18, n. 1, p. 1, doi. 10.4274/Tnd.58561
- By:
- Publication type:
- Article
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project.
- Published in:
- PLoS ONE, 2023, v. 18, n. 10, p. 1, doi. 10.1371/journal.pone.0292180
- By:
- Publication type:
- Article
The genetic basis of asymptomatic codon 8 frame-shift ( HBB:c25_26del AA) β<sup>0</sup>-thalassaemia homozygotes.
- Published in:
- British Journal of Haematology, 2016, v. 172, n. 6, p. 958, doi. 10.1111/bjh.13909
- By:
- Publication type:
- Article
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.
- Published in:
- Nature Genetics, 2011, v. 43, n. 4, p. 295, doi. 10.1038/ng.785
- By:
- Publication type:
- Article
PRENATAL DIAGNOSIS OF β-THALASSAEMIA AND SICKLE CELL ANAEMIA IN TURKEY.
- Published in:
- Prenatal Diagnosis, 1996, v. 16, n. 3, p. 252, doi. 10.1002/(SICI)1097-0223(199603)16:3<252::AID-PD839>3.0.CO;2-W
- By:
- Publication type:
- Article
Adult-Onset Treatable Leukodystrophy: Cerebrotendinous Xanthomatosis.
- Published in:
- Neuropsychiatric Investigation, 2022, v. 60, n. 4, p. 106, doi. 10.5152/NeuropsychiatricInvest.2022.22008
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia.
- Published in:
- Case Reports in Neurological Medicine, 2016, p. 1, doi. 10.1155/2016/4515938
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.677551
- By:
- 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
- By:
- 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.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0072381
- By:
- Publication type:
- Article
Discovery, Validation and Characterization of Erbb4 and Nrg1 Haplotypes Using Data from Three Genome-Wide Association Studies of Schizophrenia.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053042
- By:
- Publication type:
- Article
ATXN2 and Its Neighbouring Gene SH2B3 Are Associated with Increased ALS Risk in the Turkish Population.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042956
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 281, doi. 10.1038/ejhg.2012.170
- By:
- Publication type:
- Article
Differentiated proteome pattern of genetic absence epilepsy rats treated with ketogenic diet.
- Published in:
- Anatomy: International Journal of Experimental & Clinical Anatomy, 2022, v. 16, p. 243, doi. 10.2399/ana.22.003s
- By:
- 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
- By:
- Publication type:
- Abstract
The complex biology of ALS and G93A rats as models of disease.
- Published in:
- Anatomy: International Journal of Experimental & Clinical Anatomy, 2019, v. 13, n. S1, p. S10
- By:
- Publication type:
- Article
Identification of a novel gene in Brown-Vialetto-Van Laere syndrome.
- Published in:
- 2018
- By:
- Publication type:
- Abstract
Phenotypic and Genotypic Analysis of Hereditary Ataxia Patients in Sakarya City, Turkey.
- Published in:
- Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2019, v. 56, n. 2, p. 106, doi. 10.5152/npa.2017.20525
- By:
- Publication type:
- Article
A Turkish Family with a Familial ALS-positive UBQLN2-S340I Mutation.
- Published in:
- 2016
- By:
- Publication type:
- Letter to the Editor
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
- By:
- Publication type:
- Article
Dentatorubral pallidoluysian atrophy in a Turkish family.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
Human CRY1 variants associate with attention deficit/hyperactivity disorder.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 7, p. 1775, doi. 10.1002/acn3.52083
- By:
- Publication type:
- Article
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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Using global team science to identify genetic parkinson's disease worldwide.
- Published in:
- 2019
- By:
- Publication type:
- Editorial
White matter abnormalities in 15 subjects with SPG76.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 12, p. 5784, doi. 10.1007/s00415-023-11918-5
- By:
- 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
- By:
- Publication type:
- Article
From Genes to Proteins in Mendelian Parkinson's Disease: An Overview.
- Published in:
- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2009, v. 292, n. 12, p. 1893, doi. 10.1002/ar.20968
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
Novel variants broaden the phenotypic spectrum of PLEKHG5‐associated neuropathies.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 4, p. 1344, doi. 10.1111/ene.14649
- By:
- Publication type:
- Article
Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics.
- Published in:
- 2017
- By:
- Publication type:
- Correction Notice
A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0162866
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article