Results 231 to 240 of about 12,015 (253)

Phenotypes in Swiss patients with familial ALS carrying TARDBP mutations.

Neuro-degenerative diseases, 2013
Recently, mutations in the TARDBP gene encoding the TAR DNA-binding protein 43 (TDP-43) have been identified in some familial amyotrophic lateral sclerosis (ALS) and sporadic ALS patients. The phenotype and frequency of TARDBP mutation carriers reportedly varies greatly among European populations.To define the phenotypic spectrum of TARDBP mutations ...
Czell, D, Andersen, P M, Morita, M, Neuwirth, C, Perren, Fabienne, Weber, M   +5 more
openaire   +3 more sources

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis

Journal of Medical Genetics, 2008
Aims and background: Mutations in the TARDBP gene, which encodes the TAR DNA binding protein (TDP-43), have been described in individuals with familial and sporadic amyotrophic lateral sclerosis (ALS). We screened the TARDBP gene in 285 French sporadic ALS patients to assess the frequency of TARDBP mutations in ALS.
H, Daoud, P N, Valdmanis, E, Kabashi, P, Dion, N, Dupré, W, Camu, V, Meininger, G A, Rouleau   +7 more
openaire   +2 more sources

An integrative miRNA-mRNA expression analysis identifies miRNA signatures associated with SOD1 and TARDBP patient-derived motor neurons.

Human Molecular Genetics
MicroRNAs (miRNAs) are a subset of small non-coding single-stranded RNA molecules involved in the regulation of post-transcriptional gene expression of a variety of transcript targets. Therefore altered miRNA expression may result in the dysregulation of
Banaja P. Dash, A. Freischmidt, J. Weishaupt, Andreas Hermann   +3 more
semanticscholar   +1 more source

Large-scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese

Neurobiology of Aging, 2012
Mutations in TARDBP encoding TDP (TAR DNA binding protein)-43 have been reported in familial and sporadic amyotrophic lateral sclerosis (ALS), but mostly in Caucasians. In other ethnic groups, four types of mutations are found in familial ALS. In sporadic ALS, the TARDBP mutations frequency is low in Caucasians (0-5%) and no mutation has been found in ...
Aritoshi, Iida, Tetsumasa, Kamei, Motoki, Sano, Shuichi, Oshima, Torao, Tokuda, Yusuke, Nakamura, Shiro, Ikegawa   +6 more
openaire   +2 more sources

TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis

Neurobiology of Aging, 2012
Recently, several TARDBP mutations have been identified in sporadic amyotrophic lateral sclerosis (SALS) patients among different ethnicities. Our study aims to analyze the clinical features and mutations in the TARDBP gene among Chinese patients with SALS. One hundred sixty-five patients were studied. The mean age of onset was 50.8±12.0 years.
Rui, Huang, Deng-Fu, Fang, Ming-Yi, Ma, Xiao-Yan, Guo, Bi, Zhao, Yan, Zeng, Dong, Zhou, Yuan, Yang, Hui-Fang, Shang   +8 more
openaire   +2 more sources

Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients

Neurobiology of Aging, 2019
Mutations in the same gene are sometimes the cause of different clinically diagnosed neurologic disorders; this emphasizes interrelationships between various neurologic diseases. In this light, we screened SLC52A3, which is the cause of Brown-Vialetto-Van Laere syndrome, and C19orf12, which is the cause of neurodegeneration with brain iron accumulation
Marzieh Khani, Afagh Alavi, Hosein Shamshiri, Babak Zamani, Hosein Hassanpour, Mohammad Hossein Kazemi, Shahriar Nafissi, Elahe Elahi   +7 more
openaire   +2 more sources

A novel S379A TARDBP mutation associated to late-onset sporadic ALS

Neurological Sciences, 2019
Since 2008, several groups have reported a lot of dominant mutations in TARDBP gene as a primary cause of Amyotrophic lateral sclerosis (ALS). Mutations in TARDBP gene are responsible for 4-5% of familial ALS (fALS) and nearly 1% of sporadic ALS (sALS). To date, over 50 dominant mutations were found in TDP-43 in both familial and sporadic ALS patients,
Sprovieri Teresa, Ungaro Carmine, Perrone Benedetta, Naimo Giuseppina Daniela, Spataro Rossella, Cavallaro Sebastiano, La Bella Vincenzo, Conforti Francesca Luisa   +7 more
openaire   +4 more sources

A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred

Journal of Neurology, Neurosurgery & Psychiatry, 2009
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder that causes loss of motor neurons. A pathological hallmark of ALS is the presence of ubiquitinated TAR DNA binding protein (TDP-43) inclusions in the cytoplasm of affected cells. Rare pathogenic mutations within the gene TARDBP that encode TDP-43 were recently reported in ALS but
K L, Williams, J C, Durnall, A D, Thoeng, S T, Warraich, G A, Nicholson, I P, Blair   +5 more
openaire   +2 more sources

TARDBP Ala382Thr Mutation in Multiple Sclerosis: A Possible Role in Brain Atrophy

Current Medical Imaging Reviews, 2017
Background: Multiple Sclerosis (MS) is a chronic multifactorial disease of the central nervous system, specifically characterized by inflammatory demyelination and primary neurode-generation. Recently, a possible role for the TARDBP Ala382Thr mutation in inducing neurode-generation in MS has been hypothesized, considering its confirmed role in other ...
Lorefice L, Fenu G, Murru MR, Sechi V, Frau J, Coghe G, Cuccu S, Tranquilli S, Cocco E, MArrosu MG   +9 more
openaire   +1 more source

TARDBP gene mutation in a Chinese family with frontotemporal dementia: A case report and literature review

Journal of Alzheimer's Disease Reports
Mutations in the transactive response DNA binding protein (TARDBP) have never been reported in the population of familial frontotemporal dementia (FTD) in Chinese mainland.
Xue Zhao, Liyong Wu, Pan Li
semanticscholar   +1 more source