Results 71 to 80 of about 95,709 (300)

Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene. [PDF]

, 2017
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two apparently distinct neurodegenerative diseases, the former characterized by selective loss of motor neurons in the brain and spinal cord and the latter characterized by ...
Pasinelli, Piera, Trotti, Davide, Wen, Xinmei, Westergard, Thomas   +3 more
core   +2 more sources

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source

Aberrant interaction of FUS with the U1 snRNA provides a molecular mechanism of FUS induced amyotrophic lateral sclerosis

Nature Communications, 2020
Mutations in the RNA binding protein FUS cause amyotrophic lateral sclerosis (ALS). Here the authors characterize FUS-binding to U1 snRNP and show that ALS-associated FUS aberrantly contacts U1 snRNA which interferes with its biogenesis pathway.
Daniel Jutzi, Sébastien Campagne, Ralf Schmidt, Stefan Reber, Jonas Mechtersheimer, Foivos Gypas, Christoph Schweingruber, Martino Colombo, Christine von Schroetter, Fionna E. Loughlin, Anny Devoy, Eva Hedlund, Mihaela Zavolan, Frédéric H.-T. Allain, Marc-David Ruepp   +14 more
doaj   +1 more source

miR126-5p Downregulation Facilitates Axon Degeneration and NMJ Disruption via a Non-Cell-Autonomous Mechanism in ALS. [PDF]

, 2018
Axon degeneration and disruption of neuromuscular junctions (NMJs) are key events in amyotrophic lateral sclerosis (ALS) pathology. Although the disease\u27s etiology is not fully understood, it is thought to involve a non-cell-autonomous mechanism and ...
Behar, Oded, Bonnie, Avichai, Gradus, Tal, Inbar, Shani, Ionescu, Ariel, Maimon, Roy, Perlson, Eran, Sweetat, Sahar, Trotti, Davide, Wald-Altman, Shane, Weil, Miguel   +10 more
core   +2 more sources

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source

An Advancements In Treatment Of Amyotrophic Lateral Sclerosis (ALS)

Journal of Education, Health and Sport
Introduction and Objective: Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by the loss of motor neurons. Each year, amyotrophic lateral sclerosis is diagnosed in 4-5 people per 100,000 population.
Weronika Ożóg, Martyna Borowska-Łygan, Patrycja Grzech, Lena Kreczyńska, Aleksandra Banach, Weronika Zubrzycka, Klaudia Piskorowska, Patryk Harnicki   +7 more
doaj   +1 more source

Abnormal RNA stability in amyotrophic lateral sclerosis

Nature Communications, 2018
RNA instability may be a contributing factor in amyotrophic lateral sclerosis (ALS). Here the authors carry out genome-wide assessment of RNA synthesis and stability in cells derived from patients with C9orf72 ALS, sporadic ALS and healthy controls.
E. M. Tank, C. Figueroa-Romero, L. M. Hinder, K. Bedi, H. C. Archbold, X. Li, K. Weskamp, N. Safren, X. Paez-Colasante, C. Pacut, S. Thumma, M. T. Paulsen, K. Guo, J. Hur, M. Ljungman, E. L. Feldman, S. J. Barmada   +16 more
doaj   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Promoting Independence Through Effective Interventions For Adults With ALS [PDF]

, 2020
PICO Question What are effective occupational therapy interventions for adults with ALS to improve participation in ADLs/IADLs? Objectives Define amyotrophic lateral sclerosis (ALS) and recognize the prevalence Identify and describe evidence-based ...
Gluchowski, OTS, Renee, Harris, OTS, Hannah, Heineman, OTS, Jaclyn, Kendro, OTS, Kimberly, Malosky, OTS, Heather   +4 more
core   +1 more source

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +1 more source