Study insights in the role of PGC-1α in neurological diseases: mechanisms and therapeutic potential by Mi-bo Tang, Yi-xuan Liu, Zheng-wei Hu, Hai-yang Luo, Shuo Zhang, Chang-he Shi, Yu-ming Xu, Yu-ming Xu, Yu-ming Xu

“…Furthermore, we present the role of PGC-1α in the pathogenesis of various neurological diseases, such as intracerebral hemorrhage, ischemic stroke, Alzheimer’s disease, Parkinson’s disease, Amyotrophic lateral sclerosis, Huntington’s disease, and other PolyQ diseases. …”
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Actively protective combinatorial analysis: A scalable novel method for detecting variants that contribute to reduced disease prevalence in high-risk individuals by J Sardell, S Das, K Taylor, C Stubberfield, A Malinowski, M Strivens, S Gardner

“…We exemplify this by identifying individuals who remain healthy despite possessing several disease signatures associated with increased risk of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) or amyotrophic lateral sclerosis (ALS). We then identify combinations of SNP-genotypes significantly associated with reduced disease prevalence in these high-risk protected cohorts.We discuss how actively protective combinatorial analysis generates novel insights into the genetic drivers of established disease biology and detects gene-disease associations missed by standard statistical approaches such as meta-GWAS. …”
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Epigenetic and Neurological Impairments Associated with Early Life Exposure to Persistent Organic Pollutants by Nathalie Grova, Henri Schroeder, Jean-Luc Olivier, Jonathan D. Turner

“…Epidemiological studies have associated environmentally persistent organic pollutant exposure to brain disorders including neuropathies, cognitive, motor, and sensory impairments; neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD); and neurodegenerative diseases including Alzheimer’s disease, Parkinson’s disease, and amyotrophic lateral sclerosis (ALS). In many ways, this expands the classical “Developmental Origins of Health and Disease” paradigm to include exposure to pollutants. …”
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TDP-43 nuclear retention is antagonized by hypo-phosphorylation of its C-terminus in the cytoplasm by Célia Rabhi, Nicolas Babault, Céline Martin, Bénédicte Desforges, Alexandre Maucuer, Vandana Joshi, Serhii Pankivskyi, Yitian Feng, Guillaume Bollot, Revital Rattenbach, David Pastré, Ahmed Bouhss

“…Abstract Protein aggregation is a hallmark of many neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS), in which TDP-43, a nuclear RNA-binding protein, forms cytoplasmic inclusions. …”
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A thorny pathway of macrophage activating factor (GcMAF): from bench to bedside by A. A. Ostanin, S. S. Kirikovich, E. V. Dolgova, А. S. Proskurina, E. R. Chernykh, S. S. Bogachev

“…The role of DBP in the resistance of organism against a number of diseases is supported by the increased risk of a variety of severe illnesses (amyotrophic lateral sclerosis, colorectal cancer etc.) in patients deficient for GcMAF due to homozygosity for defective DBP alleles. …”
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Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion by Mirjana Babić Leko, Vera Župunski, Jason Kirincich, Dinko Smilović, Tibor Hortobágyi, Patrick R. Hof, Goran Šimić

“…Two clinically distinct diseases, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), have recently been classified as two extremes of the FTD/ALS spectrum. …”
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Bioinformatics screening and clinical validation of CircRNA and related miRNA in male osteoporosis by Jiayi Li, Sijia Guo, Qingyun Sun, Ning An, Jisheng Lin, Qi Fei

“…The shared mRNAs were significantly enriched in the metabolic pathways, RNA transport, Ubiquitin mediated proteolysis and Amyotrophic lateral sclerosis. Then, three genes, including SETD2, ATM and XPO1, were identified as hub genes with four algorithms. …”
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Chitinase-3-like-1: a multifaceted player in neuroinflammation and degenerative pathologies with therapeutic implications by Pharaoh Fellow Mwale, Cheng-Ta Hsieh, Ting-Lin Yen, Jing-Shiun Jan, Rajeev Taliyan, Chih-Hao Yang, Wen-Bin Yang

“…Elevated CHI3L1 levels have been observed in neurological conditions such as traumatic brain injury (TBI), Alzheimer’s disease (AD), Parkinson’s disease (PD), Amyotrophic lateral sclerosis (ALS), Creutzfeldt-Jakob disease (CJD), multiple sclerosis (MS), Neuromyelitis optica (NMO), HIV-associated dementia (HAD), Cerebral ischemic stroke (CIS), and brain tumors. …”
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The role of CXCL12/CXCR4/CXCR7 axis in cognitive impairment associated with neurodegenerative diseases by Rojin Sarallah, Shima Jahani, Alireza Soltani Khaboushan, Amir Kian Moaveni, Maryam Amiri, Masoumeh Majidi Zolbin

“…Neurodegenerative diseases, including Alzheimer's Disease (AD), Parkinson's Disease (PD), Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS), are characterized by progressive neuronal loss and cognitive impairment (CI). …”
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Bidirectional Mendelian Randomization Analysis of the Association Between Mitochondrial Proteins and Neurodegenerative Diseases by Fangyuan Wang, Zhou Jing, Qingyi Wang, Minghe Li, Bingqi Lu, Ao Huo, Chenglin Zhao, Huanyu Zhou, Wulong Liang, Weihua Hu, Xudong Fu

“…Specifically, associations were found with Alzheimer's disease (AD) (three proteins), Parkinson's disease (PD) (four proteins), amyotrophic lateral sclerosis (ALS) (six proteins), multiple sclerosis (two proteins), and dementia with Lewy bodies (four proteins). …”
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The regulatory role of cystatin C in autophagy and neurodegeneration by T. A. Korolenko, A. B. Shintyapina, A. B. Pupyshev, A. A. Akopyan, G. S. Russkikh, M. A. Dikovskaya, V. A. Vavilin, E. L Zavjalov, M. A. Tikhonova, T. G. Amstislavskaya

“…Changes in the expression and secretion of cystatin C in the brain have been shown in amyotrophic lateral sclerosis, Alzheimer’s and Parkinson’s diseases, and in some animal models of neurodegeneration, thus proving a protective function of cystatin C. …”
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CEST imaging combined with 1H-MRS reveal the neuroprotective effects of riluzole by improving neurotransmitter imbalances in Alzheimer’s disease mice by Yuanyu Shen, Xiaolei Zhang, Siqi Liu, Lijing Xin, Wentao Xuan, Caiyu Zhuang, Yue Chen, Beibei Chen, Xinhui Zheng, Renhua Wu, Yan Lin

“…Riluzole is a Glu modulator originally approved for amyotrophic lateral sclerosis that has shown potential neuroprotective effects in various neurodegenerative disorders. …”
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Case report: A severe myositis mimicking bulbar palsy after administration of immune checkpoint inhibitors by Philippe Rochigneux, Philippe Rochigneux, Alexandre Bertucci, Elika Loir, Alexia Mattei, Danielle Robert, Michael Dassa, Brice Chanez, Mikael Ebbo, Lea Gaigne, Anne Sophie Chretien, Giovanni Corazza, Giovanni Corazza, Nicolas Schleinitz

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Motor Neuron Disease Systematic Multi-Arm Adaptive Randomised Trial (MND-SMART): a multi-arm, multi-stage, adaptive, platform, phase III randomised, double-blind, placebo-controlle... by Jeremy Chataway, Suvankar Pal, Charis Wong, Elizabeth Elliott, Jenna M Gregory, Siddharthan Chandran, Judith Newton, Shuna Colville, Maria Stavrou, Christopher J Weir, Nigel Stallard, Malcolm R Macleod, Michelle Steven, Richard Anthony Parker, Arpan R Mehta, Robert J Swingler, Mahesh K B Parmar, Rachel S Dakin, Jill Williamson

“…The coprimary outcome measures are the Amyotrophic Lateral Sclerosis Functional Rating Scale Revised (ALSFRS-R) and survival. …”
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Loss of MEF2C function by enhancer mutation leads to neuronal mitochondria dysfunction and motor deficits in mice by Ali Yousefian-Jazi, Suhyun Kim, Jiyeon Chu, Seung-Hye Choi, Phuong Thi Thanh Nguyen, Uiyeol Park, Min-gyeong Kim, Hongik Hwang, Kyungeun Lee, Yeyun Kim, Seung Jae Hyeon, Hyewhon Rhim, Hannah L. Ryu, Grewo Lim, Thor D. Stein, Kayeong Lim, Hoon Ryu, Junghee Lee

“…Abstract Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by the loss of both upper and lower motor neurons, leading to progressive paralysis. …”
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A phase 2, double-blind, placebo-controlled trial of a valproate/lithium combination in ALS patients by M.-C. Boll, M. Alcaraz-Zubeldia, C. Rios, D. González-Esquivel, S. Montes

“…Background: Few treatments are currently available for amyotrophic lateral sclerosis (ALS). A combination of lithium carbonate and valproic acid (VPA-Li) was shown to inhibit motor neuron death and delay disease progression. …”
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Diffusion Tensor Imaging Evaluation of Corticospinal Tract Hyperintensity in Upper Motor Neuron-Predominant ALS Patients by Venkateswaran Rajagopalan, Didier Allexandre, Guang H. Yue, Erik P. Pioro

“…Amyotrophic lateral sclerosis (ALS) patients with predominant upper motor neuron (UMN) signs occasionally have hyperintensity of corticospinal tract (CST) on T2- and proton-density-(PD-) weighted brain images. …”
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Oligonucleotide-Based Therapy for FTD/ALS Caused by the C9orf72 Repeat Expansion: A Perspective by Stephanie A. Fernandes, Andrew G. L. Douglas, Miguel A. Varela, Matthew J. A. Wood, Yoshitsugu Aoki

“…Amyotrophic lateral sclerosis (ALS) is a progressive and lethal disease of motor neuron degeneration, leading to paralysis of voluntary muscles and death by respiratory failure within five years of onset. …”
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