Associated Papers
TDP-43 Epigenetic Facets and Their Neurodegenerative Implications.
Gimenez J et al.
International Journal of Molecular Sciences, 2023
Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.
Butz H et al.
Frontiers in Oncology, 2022
35419288 (PubMed )
Supplement: Table_1.xlsx › exome_variants_MAF_0.01
TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.
Berdyński M et al.
Journal of Alzheimer's Disease : Jad, 2022
36031890 (PubMed )
Supplement: sj-xlsx-2-alz-10.3233_jad-220210.xlsx › Robocza
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Bartoletti-Stella A et al.
Frontiers in Aging Neuroscience, 2022
36133075 (PubMed )
Supplement: Table_1.XLSX › AD_078
The debated toxic role of aggregated TDP-43 in amyotrophic lateral sclerosis: a resolution in sight?
Hergesheimer RC et al.
Brain : a Journal of Neurology, 2019
30938443 (PubMed )
Supplement: awz078_supplementary_data.pdf
Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients.
Khani M et al.
Neurobiology of Aging, 2019
Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center.
Chadi G et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017
27978769 (PubMed )
Supplement: supplement_1.pdf
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1883.659
Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis.
Kirby J et al.
Neurogenetics, 2010
TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation.
Bäumer D et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2009
Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis.
Luquin N et al.
Neuromuscular Disorders : Nmd, 2009
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.
Corrado L et al.
Human Mutation, 2009
TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.
Guerreiro RJ et al.
Plos One, 2008
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