NEK1 Variants in a Cohort of Italian Patients With Amyotrophic Lateral Sclerosis

Novel variants and cellular studies on patients’ primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis

(2021) Serena Lattante et al.   HUMAN MOLECULAR GENETICS

ALS-derived fibroblasts exhibit reduced proliferation rate, cytoplasmic TDP-43 aggregation and a higher susceptibility to DNA damage

(2020) Javier Riancho et al.   JOURNAL OF NEUROLOGY

Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort

(2020) Stefania Scarlino et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Serum phosphorylated neurofilament heavy-chain levels reflect phenotypic heterogeneity and are an independent predictor of survival in motor neuron disease

(2020) Yuri Matteo Falzone et al.   JOURNAL OF NEUROLOGY

Checking NEKs: Overcoming a Bottleneck in Human Diseases

(2020) Andressa Peres de Oliveira et al.   MOLECULES

Oligogenicity, C9orf72 expansion, and variant severity in ALS

(2020) Jay P. Ross et al.   NEUROGENETICS

Hand‐onset weakness is a common feature of ALS patients with a NEK1 loss‐of‐function variant

(2020) Yu‐Shuen Tsai et al.   Annals of Clinical and Translational Neurology

Clinical features and outcomes of the flail arm and flail leg and pure lower motor neuron MND variants: a multicentre Italian study

(2020) Paride Schito et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

From basic research to the clinic: innovative therapies for ALS and FTD in the pipeline

(2020) Rajka Maria Liscic et al.   Molecular Neurodegeneration

NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients

(2018) Hung Phuoc Nguyen et al.   NEUROBIOLOGY OF AGING

Mutation screening of NEK1 in Chinese ALS patients

(2018) Shi Shu et al.   NEUROBIOLOGY OF AGING

NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons

(2018) Julia Higelin et al.   Stem Cell Research

Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS

(2018) Hiroya Naruse et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

ALS genetic epidemiology ‘How simplex is the genetic epidemiology of ALS?’

(2017) Jan H Veldink   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

TBK1mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation

(2017) Laura Pozzi et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Corrigendum to “Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.” [Neurobiol. Aging 51 (2017) 178.e11–178.e20]

(2017) Holly A. Black et al.   NEUROBIOLOGY OF AGING

Burden of rare variants in ALS genes influences survival in familial and sporadic ALS

(2017) Shirley Yin-Yu Pang et al.   NEUROBIOLOGY OF AGING

Structural and functional brain signatures of C9orf72 in motor neuron disease

(2017) Federica Agosta et al.   NEUROBIOLOGY OF AGING

Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese

(2017) Jacob Gratten et al.   Genome Medicine

Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria

(2017) Michael J. Strong et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

NEK1mutations in familial amyotrophic lateral sclerosis

(2016) David Brenner et al.   BRAIN

Recent advances in amyotrophic lateral sclerosis

(2016) Nilo Riva et al.   JOURNAL OF NEUROLOGY

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

(2016) Kevin P Kenna et al.   NATURE GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study

(2014) Ammar Al-Chalabi et al.   LANCET NEUROLOGY

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Screening for cognition and behaviour changes in ALS

(2013) Sharon Abrahams et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Familial frontotemporal dementia and amyotrophic lateral sclerosis associated with the C9ORF72 hexanucleotide repeat

(2012) J. Hodges   BRAIN

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

(2011) Katya Rascovsky et al.   BRAIN

Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study

(2011) A. Chio et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

Natural history and clinical features of the flail arm and flail leg ALS variants

(2009) L. C. Wijesekera et al.   NEUROLOGY

Mutations of the ANG Gene in French Patients With Sporadic Amyotrophic Lateral Sclerosis

(2008) Agathe Paubel   ARCHIVES OF NEUROLOGY