N. Başak

发表

Mutations in the tail domain of the neurofilament heavy chain gene increase the risk of amyotrophic lateral sclerosis

A. Al-Chalabi, J. Glass, J. Landers, 2022, medRxiv.

The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Timothy A. Miller, A. Al-Chalabi, C. Shaw, 2022, Nature Communications.

Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival

Ashley R. Jones, G. Breen, A. Al-Chalabi, 2022, Frontiers in Cellular Neuroscience.

Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data

Ross P. Byrne, Ashley R. Jones, A. Al-Chalabi, 2022, Frontiers in Cellular Neuroscience.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Ewout J. N. Groen, Annelot M. Dekker, Ross P. Byrne, 2021, Nature Genetics.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

Ross P. Byrne, Ashley R. Jones, A. Al-Chalabi, 2022, NPJ genomic medicine.

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

Denis C. Bauer, Annelot M. Dekker, Ashley R. Jones, 2017, Nature Communications.

12q24 locus association with type 1 diabetes: SH2B3 or ATXN2?

G. Auburger, S. Gispert, Nazli A Başak, 2014, World journal of diabetes.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Ewout J. N. Groen, Annelot M. Dekker, Ross P. Byrne, 2021, Nature Genetics.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients

B. Peters, R. Drmanac, D. Cooper, 2017, Human Genomics.

Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene

N. Wray, D. Lancet, M. Snyder, 2020, Cell reports.

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

M. Lee, E. Khusnutdinova, Á. Carracedo, 2016, PloS one.

A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family.

P. Heutink, T. Gasser, J. Simón‐Sánchez, 2016, Parkinsonism & related disorders.

Two Families with SOD1 (L144F) and C9orf72 Gene Mutations and an Overview of Amyotrophic Lateral Sclerosis

Y. Seçil, Ceren Tunca, H. Türe, 2018, Turkish Journal Of Neurology.

Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation.

M. Emre, H. Gürvit, M. S. van der Knaap, 2015, Parkinsonism & related disorders.

Mitochondrial Pathology in Muscle of a Patient with a Novel Parkin Mutation

M. Emre, H. Hanagasi, M. Ozansoy, 2009, The International journal of neuroscience.

The Effect of SMN Gene Dosage on ALS Risk and Disease Severity

M. Eberle, A. Al-Chalabi, P. Andersen, 2021, Annals of neurology.

Unsupervised machine-learning identifies clinically distinct subtypes of ALS that reflect different genetic architectures and biological mechanisms

Ahmad Al Khleifat, A. Al-Chalabi, P. Andersen, 2023, medRxiv.

Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients

B. Peters, R. Drmanac, D. Cooper, 2017, Human Genomics.

Genetic and phenotype analyses of primary lateral sclerosis datasets from international cohorts

Ahmad Al Khleifat, A. Al-Chalabi, C. Shaw, 2023, medRxiv.

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”

B. Brais, M. Synofzik, H. Houlden, 2023, Movement disorders : official journal of the Movement Disorder Society.

Enhancement of Cisplatin Sensitivity in Human Cervical Cancer: Epigallocatechin-3-Gallate

E. Kılıç, O. Kucuk, K. Şahin, 2015, Front. Nutr..

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Ashley R. Jones, F. Baas, 2016, Nature Genetics.

Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene

D. Lancet, M. Snyder, J. Landers, 2020, Cell reports.

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

Naomi R. Wray, Mamede de Carvalho, Blaz Koritnik, 2018, bioRxiv.

Genetic variability in sporadic amyotrophic lateral sclerosis

A. Al-Chalabi, P. Andersen, J. Glass, 2023, Brain : a journal of neurology.