Search details
1.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Brain
; 147(5): 1887-1898, 2024 May 03.
Article
in English
| MEDLINE | ID: mdl-38193360
2.
Genetic variability in sporadic amyotrophic lateral sclerosis.
Brain
; 146(9): 3760-3769, 2023 09 01.
Article
in English
| MEDLINE | ID: mdl-37043475
3.
The Effect of SMN Gene Dosage on ALS Risk and Disease Severity.
Ann Neurol
; 89(4): 686-697, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33389754
4.
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".
Mov Disord
; 38(8): 1575-1577, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37565404
5.
Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients.
Hum Genomics
; 11(1): 30, 2017 Dec 08.
Article
in English
| MEDLINE | ID: mdl-29216901
6.
Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS.
Ann Clin Transl Neurol
; 2024 May 22.
Article
in English
| MEDLINE | ID: mdl-38775181
7.
Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival.
Front Cell Neurosci
; 17: 1112405, 2023.
Article
in English
| MEDLINE | ID: mdl-36937187
8.
Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data.
Front Cell Neurosci
; 16: 1050596, 2022.
Article
in English
| MEDLINE | ID: mdl-36589292
9.
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis.
NPJ Genom Med
; 7(1): 8, 2022 Jan 28.
Article
in English
| MEDLINE | ID: mdl-35091648
10.
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Nat Commun
; 13(1): 6901, 2022 11 12.
Article
in English
| MEDLINE | ID: mdl-36371497
11.
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
Nat Genet
; 53(12): 1636-1648, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34873335
12.
Phenotypic differences in a large family with Kennedy's disease from the Middle Black Sea region of Turkey.
Amyotroph Lateral Scler
; 11(1-2): 148-53, 2010.
Article
in English
| MEDLINE | ID: mdl-20184516
13.
Two new beta-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention.
Haematologica
; 94(9): 1289-92, 2009 Sep.
Article
in English
| MEDLINE | ID: mdl-19734421
14.
Mitochondrial pathology in muscle of a patient with a novel parkin mutation.
Int J Neurosci
; 119(10): 1572-83, 2009.
Article
in English
| MEDLINE | ID: mdl-19922375
15.
Shunt Tapping Versus Lumbar Puncture for Evaluating Cerebrospinal Fluid Infections in a Pediatric Population.
Turk Neurosurg
; 29(2): 275-278, 2019.
Article
in English
| MEDLINE | ID: mdl-30649821
16.
Spinocerebellar ataxia type 2 in a Turkish family.
J Child Neurol
; 22(7): 891-4, 2007 Jul.
Article
in English
| MEDLINE | ID: mdl-17715286
17.
Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics.
PLoS One
; 12(2): e0172595, 2017.
Article
in English
| MEDLINE | ID: mdl-28207884
18.
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
Nat Genet
; 54(3): 361, 2022 Mar.
Article
in English
| MEDLINE | ID: mdl-35102318
19.
A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family.
Parkinsonism Relat Disord
; 29: 117-20, 2016 08.
Article
in English
| MEDLINE | ID: mdl-26972524
20.
A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics.
PLoS One
; 11(9): e0162866, 2016.
Article
in English
| MEDLINE | ID: mdl-27636550