Results 41 to 50 of about 12,015 (253)

Amyotrophic lateral sclerosis caused by TARDBP mutations: from genetics to TDP-43 proteinopathy. [PDF]

Lancet Neurol
Balendra R, Sreedharan J, Hallegger M, Luisier R, Lashuel HA, Gregory JM, Patani R.   +6 more
europepmc   +2 more sources

Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer disease [PDF]

, 2017
Alzheimer disease (AD), Frontotemporal lobar degeneration (FTD), Amyotrophic lateral sclerosis (ALS) and Parkinson disease (PD) have a certain degree of clinical, pathological and molecular overlap.
Alexandra Medvedeva, Alison Goate, Ben Saef, Carlos Cruchaga, Joanne Norton, John C. Morris, John P. Budde, Jong Hun Kim, Jorge Del-Aguila, Kathleen Black, Laura Ibañez, Maria Victoria Fernández, null null, null null, Oscar Harari, Rachel Chasse, Umber Dube, Yuetiva Deming   +17 more
core   +9 more sources

TARDBP p.I383V, a recurrent alteration in Greek FTD patients

Journal of the Neurological Sciences, 2021
A significant proportion of FTD (Frontotemporal Degeneration) cases can be attributed to mutations in major genes such as GRN, MAPT and C9orf72. Our previous report on a Greek FTD cohort revealed the presence of the single nucleotide polymorphism (SNP) p.I383V (rs80356740) in the TARDBP gene in three unrelated patients.
Charoniti, E., Papastefanopoulou, V., Florou-Hatziyiannidou, C., Koros, C., Stanitsa, E., Papatriantafyllou, J.D., Papageorgiou, S.G., Kroupis, C.   +7 more
openaire   +3 more sources

Physiological tissue-specific and age-related reduction of mouse TDP-43 levels is regulated by epigenetic modifications

Disease Models & Mechanisms, 2022
The cellular level of TDP-43 (also known as TARDBP) is tightly regulated; increases or decreases in TDP-43 have deleterious effects in cells. The predominant mechanism responsible for the regulation of the level of TDP-43 is an autoregulatory negative ...
Miriam Pacetti, Laura De Conti, Luciano E. Marasco, Maurizio Romano, Mohammad M. Rashid, Martina Nubiè, Francisco E. Baralle, Marco Baralle   +7 more
doaj   +1 more source

TARDBP Mutation Presenting as Progressive Hemiplegia [PDF]

Movement Disorders Clinical Practice, 2016
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Sarah C, Lidstone, David F, Tang-Wai, Frank L, Silver, Anthony E, Lang   +3 more
openaire   +2 more sources

The role of the TARDBP gene in osteonecrosis of the femoral head: Bioinformatics analysis and mechanistic exploration. [PDF]

Medicine (Baltimore)
Osteonecrosis of the femoral head (ONFH) is a condition caused by venous stasis, impaired arterial blood flow, or destruction of the femoral head, often resulting in the localized death of bone cells and bone marrow components, leading to joint collapse.
Sun S, Wang J, Ren G, Qi J, Bu R, Zhang Y, Zang L.   +6 more
europepmc   +2 more sources

Defining the spectrum of frontotemporal dementias associated with TARDBP mutations [PDF]

Neurology Genetics, 2016
We describe the largest series of patients with TARDBP mutations presenting with frontotemporal dementia (FTD) and review the cases in the literature to precisely characterize FTD diseases associated with this genotype.The phenotypic characteristics of 29 TARDBP patients, including 10 new French and Dutch cases and 19 reviewed from the literature, were
Caroppo, Paola, Camuzat, Agnès, Guillot-Noel, Léna, Thomas-Antérion, Catherine, Couratier, Philippe, Wong, Tsz Hang, Teichmann, Marc, Golfier, Véronique, Auriacombe, Sophie, Belliard, Serge, Laurent, Bernard, Lattante, Serena, Millecamps, Stéphanie, Clot, Fabienne, Dubois, Bruno, van Swieten, John C., Brice, Alexis, Le Ber, Isabelle   +17 more
openaire   +4 more sources

Integrated temporal profiling of iPSCs-derived motor neurons from ALS patients carrying C9orf72, FUS, TARDBP, and SOD1 mutations [PDF]

bioRxiv
Guoming Ma, Congcong Xia, Boyu Lyu, Jie Liu, Fang Luo, Mingfeng Guan, Junying Wang, Li Sun, Zhang Lin, Yan Chen, Yingwei Mao, G. Yu, Wenyuan Wang   +12 more
openalex   +2 more sources

ASO-enhancement of TARDBP exitron splicing mitigates TDP-43 proteinopathies

bioRxiv
Takuma Yamagishi, Shingo Koide, Genri Toyama, Aya Washida, Yumi Yamada, Ryutaro Hanyu, Ekaterina Nadbitova, Yuka Koike, Takuya Konno, Tomohiko Ishihara, Taisuke Kato, Osamu Onodera, Akihiro Sugai   +12 more
openalex   +2 more sources

Facial onset sensory and motor neuronopathy: new cases, cognitive changes and pathophysiology [PDF]

, 2020
Purpose of review To improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN). Recent findings We identified 29 new cases and 71 literature cases, resulting in a cohort of 100 patients with FOSMN.
Al-Chalabi, Ammar, Albertí Aguilo, Maria A., Anderson, Stuart J., Barritt, Andrew W., Bella, Eleonora Dalla, Broad, Rebecca, De Boer, Eva M.J., De Souza, Paulo V.S., Elamin, Marwa, Goedee, H. Stephan, Harschnitz, Oliver, Lauria, Giuseppe, Leigh, Peter N., Nisbet, Angus, Oliveira, Acary S.B., Pardo Fernandez, Julio, Parson, Malu, Pinto, Wladimir B.V.R., Povedano Panades, Mónica, Prudlo, Johannes, Toro, Camilo, Van Den Berg, Leonard H., Van Es, Michael A., Van Iersel, Joost, Vedeler, Christian A., Veldink, Jan H., Vázquez Costa, Juan F.   +26 more
core   +3 more sources