Results 21 to 30 of about 95,709 (300)

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis [PDF]

, 2010
The finding of TDP-43 as a major component of ubiquitinated protein inclusions in amyotrophic lateral sclerosis (ALS) has led to the identification of 30 mutations in the transactive response-DNA binding protein (TARDBP) gene, encoding TDP-43.
A Yokoseki, BA Hosler, C Lomen-Hoerth, C Vance, Christopher J. McDermott, D Neary, DR Rosen, E Buratti, E Buratti, E Kabashi, Emily F. Goodall, F Gros-Louis, GM Ringholz, H Daoud, Hannah C. Hollinger, I Gijselinck, IF Wang, IR Mackenzie, J Kirby, J Sreedharan, J. Robin Highley, Janine Kirby, JJ Kew, Judith A. Hartley, Karen E. Morrison, L Benajiba, L Corrado, M Morita, M Neumann, MJ Strong, MJ Winton, NJ Rutherford, P Kuhnlein, PA Mercado, Pamela J. Shaw, Paul G. Ince, PM Andersen, R Bo Del, R Lemmens, Rachel Hibberd, RJ Guerreiro, Rudo Masanzu, SH Ou, Stephen B. Wharton, VM Deerlin Van, William Smith, YM Ayala   +46 more
core   +1 more source

The Role of TAR DNA Binding Protein 43 (TDP-43) as a CandiDate Biomarker of Amyotrophic Lateral Sclerosis: A Systematic Review and Meta-Analysis

Diagnostics, 2023
Background: TAR DNA-binding protein 43 (TDP-43) aggregation in neuronal cells is recognized as a hallmark of amyotrophic lateral sclerosis (ALS). Although the literature strongly supports the pathogenetic role of TDP-43 in ALS pathogenesis, the role of ...
Caterina Maria Gambino, Anna Maria Ciaccio, Bruna Lo Sasso, Rosaria Vincenza Giglio, Matteo Vidali, Luisa Agnello, Marcello Ciaccio   +6 more
doaj   +1 more source

Safety and feasibility of Lin- cells administration to ALS patients : a novel view on humoral factors and miRNA profiles [PDF]

, 2018
Therapeutic options for amyotrophic lateral sclerosis (ALS) are still limited. Great hopes, however, are placed in growth factors that show neuroprotective abilities (e.g., nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), and vascular
Baumert, Bartłomiej, Dulak, Józef, Gołąb-Janowska, Monika, Gródecka-Szwajkiewicz, Dorota, Kawa, Miłosz P., Kotowski, Maciej, Litwińska, Zofia, Machaliński, Bogusław, Nowacki, Przemysław, Peregud-Pogorzelski, Jarosław, Pius-Sadowska, Ewa, Sobuś, Anna, Stępniewski, Jacek   +12 more
core   +2 more sources

Thalamic, hippocampal and basal ganglia pathology in primary lateral sclerosis and amyotrophic lateral sclerosis: Evidence from quantitative imaging data

Data in Brief, 2020
Primary lateral sclerosis and amyotrophic lateral sclerosis are primarily associated with motor cortex and corticospinal tract pathology. A standardised, prospective, single-centre neuroimaging protocol was used to characterise thalamic, hippocampal and ...
Eoin Finegan, Stacey Li Hi Shing, Rangariroyashe H. Chipika, Mary C. McKenna, Mark A. Doherty, Jennifer C. Hengeveld, Alice Vajda, Colette Donaghy, Russell L. McLaughlin, Siobhan Hutchinson, Orla Hardiman, Peter Bede   +11 more
doaj   +1 more source

Identification of potentially functional modules and diagnostic genes related to amyotrophic lateral sclerosis based on the WGCNA and LASSO algorithms

Scientific Reports, 2022
Amyotrophic lateral sclerosis (ALS) is a genetically and phenotypically heterogeneous disease results in the loss of motor neurons. Mounting information points to involvement of other systems including cognitive impairment.
Narges Daneshafrooz, Masumeh Bagherzadeh Cham, Mohammad Majidi, Bahman Panahi   +3 more
doaj   +1 more source

SIGMAR1 variants in ALS–PD complex cases: a case report of a novel mutation and literature review

Frontiers in Neurology, 2023
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by progressive degeneration of upper and lower motor neurons, with occasional involvement of the extrapyramidal system.
Haining Li, Haining Li, Tingting Xuan, Tingting Xuan, Ting Xu, Juan Yang, Juan Yang, Jiang Cheng, Jiang Cheng, Zhenhai Wang, Zhenhai Wang   +10 more
doaj   +1 more source

Dissociation of structural and functional integrities of the motor system in amyotrophic lateral sclerosis and behavioral-variant frontotemporal dementia [PDF]

, 2016
Background and Purpose: This study investigated the structural and functional changes in the motor system in amyotrophic lateral sclerosis (ALS; n=25) and behavioral-variant fronto-temporal dementia (bvFTD; n=17) relative to healthy controls (n=37 ...
Bae, Jong Seok, Burrell, James, Ferguson, Michele, Hodges, John R., Hornberger, Michael, Kiernan, Matthew C., Mioshi, Eneida, Simon, Neil, Tan, Rachel, Vucic, Steve   +9 more
core   +2 more sources

Alterations in Leptin Signaling in Amyotrophic Lateral Sclerosis (ALS) [PDF]

International Journal of Molecular Sciences, 2021
Leptin has been suggested to play a role in amyotrophic lateral sclerosis (ALS), a fatal progressive neurodegenerative disease. This adipokine has previously been shown to be associated with a lower risk of ALS and to confer a survival advantage in ALS patients. However, the role of leptin in the progression of ALS is unknown. Indeed, our understanding
Agueda Ferrer-Donato, Ana Contreras, Laura M. Frago, Julie A. Chowen, Carmen M. Fernandez-Martos   +4 more
openaire   +5 more sources

Production and validation of human induced pluripotent stem cell line from sporadic amyotrophic lateral sclerosis (SALS)

Stem Cell Research, 2020
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with the loss of upper motor neurons in the cortex and lower motor neurons in the brain stem and spinal cord regressively.
Jun Ma, Baofeng Feng, Desheng Kong, Jingjing He, Ruiyun Guo, Asiamah Ernest Amponsah, Wei Zhang, Shuhan Zhang, Fei Lv, Yongzhou Song, Aijing Liu, Huixian Cui   +11 more
doaj   +1 more source

Genetics of familial amyotrophic lateral sclerosis

Бюллетень сибирской медицины, 2021
To analyze results of the studies covering modern scientific views on the genetics of familial amyotrophic lateral sclerosis (FALS).We searched for full-text publications containing the key words “amyotrophic lateral sclerosis”, “FALS”, and “genetics” in
A. V. Savinova, N. A. Shnayder, R. F. Nasyrova   +2 more
doaj   +1 more source