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

Genetic characterization of a cohort with familial parkinsonism and cognitive-behavioral syndrome: A Next Generation Sequencing study

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ALS-causing D169G mutation disrupts the ATP-binding capacity of TDP-43 RRM1 domain

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ALS Genetics: Gains, Losses, and Implications for Future Therapies

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Unique characteristics of the genetics epidemiology of amyotrophic lateral sclerosis in China

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Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria

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Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis

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Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History

(2018) Siyang Liu et al.   CELL

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

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Amyotrophic Lateral Sclerosis

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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

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MDS clinical diagnostic criteria for Parkinson's disease

(2015) Ronald B. Postuma et al.   MOVEMENT DISORDERS

A revision of the El Escorial criteria - 2015

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A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques

(2015) Fermin Moreno et al.   Acta Neuropathologica Communications

Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject

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TARDBP mutations in Parkinson's disease

(2012) Sruti Rayaprolu et al.   PARKINSONISM & RELATED DISORDERS

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

(2011) Katya Rascovsky et al.   BRAIN

A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD

(2011) Giuseppe Borghero et al.   NEUROBIOLOGY OF AGING

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia

(2011) Marialuisa Quadri et al.   NEUROGENETICS

Different clinical and neuropathologic phenotypes of familial ALS with A315E TARDBP mutation

(2011) Y. Fujita et al.   NEUROLOGY

TARDBPmutations in motoneuron disease with frontotemporal lobar degeneration

(2009) Lina Benajiba et al.   ANNALS OF NEUROLOGY

Mutation withinTARDBPleads to Frontotemporal Dementia without motor neuron disease

(2009) B. Borroni et al.   HUMAN MUTATION

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

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