Novel TARDBP missense mutation caused familial amyotrophic lateral sclerosis with frontotemporal dementia and parkinsonism
出版年份 2021 全文链接
标题
Novel TARDBP missense mutation caused familial amyotrophic lateral sclerosis with frontotemporal dementia and parkinsonism
作者
关键词
Amyotrophic lateral sclerosis, TARDBP, mutations, Parkinson's disease, frontotemporal dementia
出版物
NEUROBIOLOGY OF AGING
Volume -, Issue -, Pages -
出版商
Elsevier BV
发表日期
2021-06-01
DOI
10.1016/j.neurobiolaging.2021.05.017
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Genetic characterization of a cohort with familial parkinsonism and cognitive-behavioral syndrome: A Next Generation Sequencing study
- (2021) Marina Picillo et al. PARKINSONISM & RELATED DISORDERS
- ALS-causing D169G mutation disrupts the ATP-binding capacity of TDP-43 RRM1 domain
- (2020) Mei Dang et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- ALS Genetics: Gains, Losses, and Implications for Future Therapies
- (2020) Garam Kim et al. NEURON
- Unique characteristics of the genetics epidemiology of amyotrophic lateral sclerosis in China
- (2019) Qianqian Wei et al. Science China-Life Sciences
- Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria
- (2018) Monica Gagliardi et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis
- (2018) Alexander E. Volk et al. Medizinische Genetik
- 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
- (2017) Zhang-Yu Zou et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Amyotrophic Lateral Sclerosis
- (2017) Robert H. Brown et al. NEW ENGLAND JOURNAL OF MEDICINE
- 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
- MDS clinical diagnostic criteria for Parkinson's disease
- (2015) Ronald B. Postuma et al. MOVEMENT DISORDERS
- A revision of the El Escorial criteria - 2015
- (2015) Albert Ludolph et al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- 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
- (2012) Lorena Mosca et al. NEUROBIOLOGY OF AGING
- 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
- (2008) J. Sreedharan et al. SCIENCE
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