Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review

Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis

(2023) Serena Lattante et al.   EUROPEAN JOURNAL OF NEUROLOGY

Predictors for progression in amyotrophic lateral sclerosis associated to SOD1 mutation: insight from two population-based registries

(2023) Ilaria Martinelli et al.   JOURNAL OF NEUROLOGY

Neuroinflammatory Pathways in the ALS-FTD Continuum: A Focus on Genetic Variants

(2023) Fabiola De Marchi et al.   Genes

Genotype–phenotype association of TARDBP mutations in Chinese patients with amyotrophic lateral sclerosis: a single-center study and systematic review of published literature

(2022) Jinyue Li et al.   JOURNAL OF NEUROLOGY

Brain 18fluorodeoxyglucose-positron emission tomography changes in amyotrophic lateral sclerosis with TARDBP mutations

(2022) Antonio Canosa et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China

(2022) Fanxi Xu et al.   BMC Medical Genomics

Systematic evaluation of genetic mutations in ALS: a population-based study

(2022) Maurizio Grassano et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Profiling morphologic MRI features of motor neuron disease caused by TARDBP mutations

(2022) Edoardo Gioele Spinelli et al.   Frontiers in Neurology

Factors predicting disease progression in C9ORF72 ALS patients

(2022) Jessica Mandrioli et al.   JOURNAL OF NEUROLOGY

Amyotrophic lateral sclerosis

(2022) Eva L Feldman et al.   LANCET

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

(2022) Daniel Sánchez-Tejerina et al.   Genes

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

(2022) Sarah Opie-Martin et al.   Nature Communications

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

(2021) Sheng Chen et al.   NEUROBIOLOGY OF AGING

Structural MRI Signatures in Genetic Presentations of the Frontotemporal Dementia-Motor Neuron Disease Spectrum

(2021) Edoardo Gioele Spinelli et al.   NEUROLOGY

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

(2021) Feng Feng et al.   Brain and Behavior

ALS phenotype is influenced by age, sex, and genetics

(2020) Adriano Chiò et al.   NEUROLOGY

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

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

Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis

(2020) Carmine Ungaro et al.   NEUROBIOLOGY OF AGING

Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort

(2020) Maurizio Grassano et al.   NEUROLOGY

Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis

(2019) Archana Prasad et al.   Frontiers in Molecular Neuroscience

The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?

(2019) Lucia Corrado et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Amyotrophic Lateral Sclerosis: An Update for 2018

(2018) Björn Oskarsson et al.   MAYO CLINIC PROCEEDINGS

Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis

(2018) Priyam Narain et al.   NEUROBIOLOGY OF AGING

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

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

(2018) Kathy Newell et al.   BRAIN PATHOLOGY

Two distinct clinical features and cognitive impairment in amyotrophic lateral sclerosis patients with TARDBP gene mutations in the Chinese population

(2016) XiaoDong Ju et al.   NEUROBIOLOGY OF AGING

Genotype-phenotype correlations of amyotrophic lateral sclerosis

(2016) Hong-Fu Li et al.   Translational Neurodegeneration

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population

(2015) Katarina Vrabec et al.   NEUROBIOLOGY OF AGING

Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis

(2014) Bing-Wen Soong et al.   NEUROBIOLOGY OF AGING

TARDBPandFUSMutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

(2013) Serena Lattante et al.   HUMAN MUTATION

C9ORF72 Mutations in Neurodegenerative Diseases

(2013) Ying Liu et al.   MOLECULAR NEUROBIOLOGY

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

The changing scene of amyotrophic lateral sclerosis

(2013) Wim Robberecht et al.   NATURE REVIEWS NEUROSCIENCE

Phenotypes in Swiss Patients with Familial ALS CarryingTARDBPMutations

(2013) D. Czell et al.   Neurodegenerative Diseases

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling et al.   NEURON

TARDBPmutation p.Ile383Val associated with semantic dementia and complex proteinopathy

(2013) E. Gelpi et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Phenotype difference between ALS patients with expanded repeats inC9ORF72and patients with mutations in other ALS-related genes

(2012) Stéphanie Millecamps et al.   JOURNAL OF MEDICAL GENETICS

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

(2012) P. Corcia et al.   NEUROLOGY

Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration

(2011) Edward B. Lee et al.   NATURE REVIEWS NEUROSCIENCE

TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis

(2010) F. L. Conforti et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis

(2010) Rui Huang et al.   NEUROBIOLOGY OF AGING

ALS pathogenesis: Recent insights from genetics and mouse models

(2010) Vivek Swarup et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation

(2010) Emanuele Buratti et al.   RNA Biology

TARDBP(TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations

(2009) R. Del Bo et al.   EUROPEAN JOURNAL OF NEUROLOGY

High frequency ofTARDBPgene mutations in Italian patients with amyotrophic lateral sclerosis

(2009) Lucia Corrado et al.   HUMAN MUTATION

Mutation withinTARDBPleads to Frontotemporal Dementia without motor neuron disease

(2009) B. Borroni et al.   HUMAN MUTATION

A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred

(2009) K L Williams et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

(2008) Vivianna M Van Deerlin et al.   LANCET 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

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

(2008) Nicola J. Rutherford et al.   PLoS Genetics