An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature

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

NEK1 mutations and the risk of amyotrophic lateral sclerosis (ALS): a meta-analysis

(2021) Luqing Yao et al.   NEUROLOGICAL SCIENCES

Novel TARDBP missense mutation caused familial amyotrophic lateral sclerosis with frontotemporal dementia and parkinsonism

(2021) Sheng Chen et al.   NEUROBIOLOGY OF AGING

Genetic and clinical features of Chinese sporadic amyotrophic lateral sclerosis patients with TARDBP mutations

(2021) Feng Feng et al.   Brain and Behavior

Juvenile Amyotrophic Lateral Sclerosis: A Review

(2021) Tanya Lehky et al.   Genes

Clinical and genetic features of patients with amyotrophic lateral sclerosis in southern China

(2020) W. Chen et al.   EUROPEAN JOURNAL OF NEUROLOGY

Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort

(2020) Florence Esselin et al.   Frontiers in Neuroscience

Generation of an ALS human iPSC line KEIOi001-A from peripheral blood of a Charcot disease-affected patient carrying TARDBP p.N345K heterozygous SNP mutation

(2020) Nicolas Leventoux et al.   Stem Cell Research

Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population

(2020) Hiroya Naruse et al.   JOURNAL OF HUMAN GENETICS

Genetics of amyotrophic lateral sclerosis: A review

(2019) Stéphane Mathis et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

p.N345K mutation in TARDBP in a patient with familial amyotrophic lateral sclerosis: An autopsy case

(2019) Takahiro Takeda et al.   NEUROPATHOLOGY

Epidemiological and clinical features of amyotrophic lateral sclerosis in a Tunisian cohort

(2019) Imen Kacem et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Structural Insights Into TDP-43 and Effects of Post-translational Modifications

(2019) Liberty François-Moutal et al.   Frontiers in Molecular Neuroscience

ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?

(2019) Rita Mejzini et al.   Frontiers in Neuroscience

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

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

Dysregulation of TDP-43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant

(2018) Kathy Newell et al.   BRAIN PATHOLOGY

Genetic epidemiology of motor neuron disease-associated variants in the Scottish population

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

Amyotrophic lateral sclerosis

(2017) Orla Hardiman et al.   Nature Reviews Disease Primers

NEK1mutations in familial amyotrophic lateral sclerosis

(2016) David Brenner et al.   BRAIN

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

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes

(2014) Janet Cady et al.   ANNALS OF NEUROLOGY

Genetic architecture of ALS in Sardinia

(2014) Giuseppe Borghero et al.   NEUROBIOLOGY OF AGING

SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: A United States clinical testing lab experience

(2012) Jeffrey A. Brown et al.   Amyotrophic Lateral Sclerosis

Role of selected mutations in the Q/N rich region of TDP-43 in EGFP-12xQ/N-induced aggregate formation

(2012) Mauricio Budini et al.   BRAIN RESEARCH

Screening of the TARDBP gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin

(2012) Zhang-Yu Zou et al.   NEUROBIOLOGY OF AGING

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

(2012) P. Corcia et al.   NEUROLOGY

High frequency ofTARDBPgene mutations in Italian patients with amyotrophic lateral sclerosis

(2009) Lucia Corrado et al.   HUMAN MUTATION

TDP-43 Is Intrinsically Aggregation-prone, and Amyotrophic Lateral Sclerosis-linked Mutations Accelerate Aggregation and Increase Toxicity

(2009) Brian S. Johnson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis

(2009) Janine Kirby et al.   NEUROGENETICS

TDP-43A315T mutation in familial motor neuron disease

(2008) Michael A. Gitcho et al.   ANNALS OF NEUROLOGY

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE