Results 21 to 30 of about 2,700,197 (262)

Characteristics of amyotrophic lateral sclerosis in Lebanon-a chart review [PDF]

, 2020
Objective: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder primarily manifesting as motor deficits. It is caused by motor neuron death and leads to progressive disability and demise.
Doumiati, Hassan, Salameh, Johnny S., Ismail, Helen H., Malek, Elia Gebran   +3 more
core   +1 more source

ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population [PDF]

, 2012
Expansions of the polyglutamine (polyQ) domain (≥34) in Ataxin-2 (ATXN2) are the primary cause of spinocerebellar ataxia type 2 (SCA2). Recent studies reported that intermediate-length (27–33) expansions increase the risk of Amyotrophic Lateral Sclerosis
Hilmi Özçelik (5648923), Aslihan Özoğuz, A Nazlı Başak, A. Nazlı Başak (143417), Piraye Oflazer, Hilmi Özçelik, Zeynep Sena Ağım, Piraye Oflazer (143408), Özgür Ömür (143395), Auburger, Georg, Oflazer, Piraye, Filiz Koç (143411), Zeynep Sena Ağım (143399), Özçelik, Hilmi, Yeşim Parman, Ömür, Özgür, Feza Deymeer, Parman, Yeşim, Yeşim Parman (143403), Ağım, Zeynep Sena, Başak, Ayşe Nazlı, Aslihan Özoğuz (143401), Özoğuz, Aslihan, Özgün Uyan, Özgün Uyan (5648920), Georg Auburger (139057), Suna Lahut, Deymeer, Feza, Georg Auburger, Uyan, Özgün, Feza Deymeer (143405), Lahut, Suna, Koç, Filiz, Filiz Koç, Suna Lahut (143392), Özgür Ömür   +35 more
core   +2 more sources

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

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA [PDF]

, 2012
Mutations in the RNA binding protein FUS cause amyotrophic lateral sclerosis (ALS), a fatal adult motor neuron disease. Decreased expression of SMN causes the fatal childhood motor neuron disorder spinal muscular atrophy (SMA).
Das, Rita, Maniatis, Tom, Sharma, A, Yan, Biao, Tapia, JC, Gygi, Steve P., Monica A. Carrasco, Shneider, NA, Nishimura, AL, Chen, Shi, Yu, Yong, Sharma, Aarti, Yan, B, Gygi, SP, Christopher E. Shaw, Yamazaki, T, Steve P. Gygi, Siddharthan Chandran, Reed, Robin, Yu, Y, Aarti Sharma, Reed, R, Yong Yu, Rita Das, Das, R, Carrasco, Monica A., Zhai, Bo, Shneider, Neil A., Chen, S, Juan C. Tapia, Tapia, Juan C., Agnes Lumi Nishimura, Lalancette-Hebert, Melanie, Haertlein, TC, Tom Maniatis, Lalancette-Hebert, M, Biao Yan, Carrasco, MA, Neil A. Shneider, Yamazaki, Tomohiro, Nishimura, Agnes Lumi, Sullivan, G, Maniatis, T, Shaw, Christopher E., Shi Chen, Zhai, B, Melanie Lalancette-Hebert, Sullivan, Gareth, Tyler C. Haertlein, Shaw, CE, Chandran, S, Haertlein, Tyler C., Tomohiro Yamazaki, Gareth Sullivan, Robin Reed, Bo Zhai, Chandran, Siddharthan   +56 more
core   +1 more source

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

A mutation in dynein rescues axonal transport defects and extends the life span of ALS mice [PDF]

, 2005
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative condition characterized by motoneuron degeneration and muscle paralysis. Although the precise pathogenesis of ALS remains unclear, mutations in Cu/Zn superoxide dismutase (SOD1) account for
Dairin Kieran, Martin, J, Joanne Martin, Schiavo, G, Giampietro Schiavo (107907), Dick, JRT, Greensmith, L., Joanne Martin (11260388), Bohnert, S, Hafezparast, M., Elizabeth M.C. Fisher, Fisher, EMC, Linda Greensmith, Stephanie Bohnert (16066082), Martin, J., Majid Hafezparast (4461484), Fisher, E.M.C., James R T Dick (16066085), Majid Hafezparast, Greensmith, L, Linda Greensmith (252146), Giampietro Schiavo, Kieran, D., Bohnert, S., Stephanie Bohnert, James R.T. Dick, Dairin Kieran (7953794), Dick, J.R.T., Kieran, D, Hafezparast, M, Schiavo, G., Elizabeth M C Fisher (16062626)   +31 more
core   +1 more source

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