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Select item 96346331.

Case report and literature review: Novel compound heterozygous FIG4 variants causing both of peripheral and central nervous system defects

Yonglin Yu, Hongwei Yin, Changli Ma, Xiaoyi Jia, Wencong Chen, Haifeng Li, Ke Wu

Front Pediatr. 2022; 10: 1008251. Published online 2022 Oct 21. doi: 10.3389/fped.2022.1008251

PMCID:: PMC9634633

Article PDF–1.3M

Select item 80788562.

Angular Leaf Spot Resistance Loci Associated With Different Plant Growth Stages in Common Bean

Caléo Panhoca de Almeida, Jean Fausto de Carvalho Paulino, Gabriel Francesco Janini Bonfante, Juliana Morini Kupper Cardoso Perseguini, Isabella Laporte Santos, João Guilherme Ribeiro Gonçalves, Flávia Rodrigues Alves Patrício, Cristiane Hayumi Taniguti, Gabriel de Siqueira Gesteira, Antônio Augusto Franco Garcia, Qijian Song, Sérgio Augusto Morais Carbonell, Alisson Fernando Chiorato, Luciana Lasry Benchimol-Reis

Front Plant Sci. 2021; 12: 647043. Published online 2021 Apr 13. doi: 10.3389/fpls.2021.647043

PMCID:: PMC8078856

Article PDF–2.2M

Select item 110471043.

Reversal of C9orf72 mutation-induced transcriptional dysregulation and pathology in cultured human neurons by allele-specific excision

Aradhana Sachdev, Kamaljot Gill, Maria Sckaff, Alisha M. Birk, Olubankole Aladesuyi Arogundade, Katherine A. Brown, Runvir S. Chouhan, Patrick Oliver Issagholian-Lewin, Esha Patel, Hannah L. Watry, Mylinh T. Bernardi, Kathleen C. Keough, Yu-Chih Tsai, Alec Simon Tulloch Smith, Bruce R. Conklin, Claire Dudley Clelland

Proc Natl Acad Sci U S A. 2024 Apr 23; 121(17): e2307814121. Published online 2024 Apr 15. doi: 10.1073/pnas.2307814121

PMCID:: PMC11047104

Article PDF–1.4M

Select item 110216114.

SPTLC2 variants are associated with early‐onset ALS and FTD due to aberrant sphingolipid synthesis

Hiroya Naruse, Hiroyuki Ishiura, Kayoko Esaki, Jun Mitsui, Wataru Satake, Peter Greimel, Nanoka Shingai, Yuka Machino, Yasumasa Kokubo, Hirotoshi Hamaguchi, Tetsuya Oda, Tomoko Ikkaku, Ichiro Yokota, Yuji Takahashi, Yuta Suzuki, Takashi Matsukawa, Jun Goto, Kishin Koh, Yoshihisa Takiyama, Shinichi Morishita, Takeo Yoshikawa, Shoji Tsuji, Tatsushi Toda

Ann Clin Transl Neurol. 2024 Apr; 11(4): 946–957. Published online 2024 Feb 5. doi: 10.1002/acn3.52013

PMCID:: PMC11021611

Article PDF–2.6M

Select item 109633025.

Nuclear pore pathology underlying multisystem proteinopathy type 3‐related inclusion body myopathy

Rumiko Izumi, Kensuke Ikeda, Tetsuya Niihori, Naoki Suzuki, Matsuyuki Shirota, Ryo Funayama, Keiko Nakayama, Hitoshi Warita, Maki Tateyama, Yoko Aoki, Masashi Aoki

Ann Clin Transl Neurol. 2024 Mar; 11(3): 577–592. Published online 2023 Dec 29. doi: 10.1002/acn3.51977

PMCID:: PMC10963302

Article PDF–7.3M

Select item 109633016.

Resting‐state fMRI functional connectome of C9orf72 mutation status

Mario Stanziano, Davide Fedeli, Umberto Manera, Stefania Ferraro, Jean P. Medina Carrion, Sara Palermo, Paola Sciortino, Maurizio Cogoni, Federica Agosta, Silvia Basaia, Massimo Filippi, Marina Grisoli, Maria C. Valentini, Filippo De Mattei, Antonio Canosa, Andrea Calvo, Maria G. Bruzzone, Adriano Chiò, Anna Nigri, Cristina Moglia

Ann Clin Transl Neurol. 2024 Mar; 11(3): 686–697. Published online 2024 Jan 17. doi: 10.1002/acn3.51989

PMCID:: PMC10963301

Article PDF–691K

Select item 109473457.

Advantages of routine next‐generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic

Jakub Scaber, Alexander G. Thompson, Lucy Farrimond, Emily Feneberg, Malcolm Proudfoot, Lynn Ossher, Martin R. Turner, Kevin Talbot

Eur J Neurol. 2023 Aug; 30(8): 2240–2249. Published online 2023 May 28. doi: 10.1111/ene.15855

PMCID:: PMC10947345

Article PDF–490K

Select item 109162358.

TBK1, a prioritized drug repurposing target for amyotrophic lateral sclerosis: evidence from druggable genome Mendelian randomization and pharmacological verification in vitro

Qing-Qing Duan, Han Wang, Wei-Ming Su, Xiao-Jing Gu, Xiao-Fei Shen, Zheng Jiang, Yan-Ling Ren, Bei Cao, Guo-Bo Li, Yi Wang, Yong-Ping Chen

BMC Med. 2024; 22: 96. Published online 2024 Mar 5. doi: 10.1186/s12916-024-03314-1

PMCID:: PMC10916235

Article PDF–4.2M

Select item 109039379.

A mutation in the low-complexity domain of splicing factor hnRNPA1 linked to amyotrophic lateral sclerosis disrupts distinct neuronal RNA splicing networks

Yeon J. Lee, Donald C. Rio

Genes Dev. 2024 Jan 1; 38(1-2): 11–30. doi: 10.1101/gad.351104.123

PMCID:: PMC10903937

Article PDF–4.9M

Select item 1087258010.

TDP-43 protein interactome informs about perturbed canonical pathways and may help develop personalized medicine approaches for patients with TDP-43 pathology

Benjamin R. Helmold, Kate E. Pauss, P. Hande Ozdinler

Drug Discov Today. Author manuscript; available in PMC 2024 Feb 16.

Published in final edited form as: Drug Discov Today. 2023 Nov; 28(11): 103769. Published online 2023 Sep 14. doi: 10.1016/j.drudis.2023.103769

PMCID:: PMC10872580

Article PDF–3.2M

Select item 1080810911.

DNA methylome, R-loop and clinical exome profiling of patients with sporadic amyotrophic lateral sclerosis

Orsolya Feró, Dóra Varga, Éva Nagy, Zsolt Karányi, Éva Sipos, József Engelhardt, Nóra Török, István Balogh, Borbála Vető, István Likó, Ábel Fóthi, Zoltán Szabó, Gábor Halmos, László Vécsei, Tamás Arányi, Lóránt Székvölgyi

Sci Data. 2024; 11: 123. Published online 2024 Jan 24. doi: 10.1038/s41597-024-02985-y

PMCID:: PMC10808109

Article PDF–4.3M

Select item 1079178812.

Abnormal Brain Protein Abundance and Cross-tissue mRNA Expression in Amyotrophic Lateral Sclerosis

Yanni Ma, Tingting Jia, Fengqin Qin, Yongji He, Feng Han, Chengcheng Zhang

Mol Neurobiol. 2024; 61(1): 510–518. Published online 2023 Aug 28. doi: 10.1007/s12035-023-03587-2

PMCID:: PMC10791788

Article PDF–1.2M

Select item 1079102413.

Mutation and clinical analysis of the CLCC1 gene in amyotrophic lateral sclerosis patients from Central South China

Linxin Tang, Xuxiong Tang, Qianqian Zhao, Yongchao Li, Yue Bu, Zhen Liu, Jinchen Li, Jifeng Guo, Lu Shen, Hong Jiang, Beisha Tang, Renshi Xu, Wenfeng Cao, Yanchun Yuan, Junling Wang

Ann Clin Transl Neurol. 2024 Jan; 11(1): 79–88. Published online 2023 Nov 2. doi: 10.1002/acn3.51934

PMCID:: PMC10791024

Article PDF–1.2M

Select item 1072656514.

Targeting RACK1 to alleviate TDP-43 and FUS proteinopathy-mediated suppression of protein translation and neurodegeneration

Beibei Zhao, Catherine M. Cowan, Juliane A. Coutts, Darren D. Christy, Ananya Saraph, Shawn C. C. Hsueh, Stephen S. Plotkin, Ian R. Mackenzie, Johanne M. Kaplan, Neil R. Cashman

Acta Neuropathol Commun. 2023; 11: 200. Published online 2023 Dec 18. doi: 10.1186/s40478-023-01705-8

PMCID:: PMC10726565

Article PDF–3.5M

Select item 1068399915.

Targeted ASO-mediated Atp1a2 knockdown in astrocytes reduces SOD1 aggregation and accelerates disease onset in mutant SOD1 mice

Abhirami K. Iyer, Kathleen M. Schoch, Anthony Verbeck, Grant Galasso, Hao Chen, Sarah Smith, Anna Oldenborg, Timothy M. Miller, Celeste M. Karch, Azad Bonni

PLoS One. 2023; 18(11): e0294731. Published online 2023 Nov 28. doi: 10.1371/journal.pone.0294731

PMCID:: PMC10683999

Article PDF–3.0M

Select item 1067172516.

Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review

Michele Lombardi, Lucia Corrado, Beatrice Piola, Cristoforo Comi, Roberto Cantello, Sandra D’Alfonso, Letizia Mazzini, Fabiola De Marchi

Genes (Basel) 2023 Nov; 14(11): 2039. Published online 2023 Nov 4. doi: 10.3390/genes14112039

PMCID:: PMC10671725

Article PDF–752K

Select item 1067155217.

Navigating the ALS Genetic Labyrinth: The Role of MAPT Haplotypes

Ivan Tourtourikov, Kristiyan Dabchev, Tihomir Todorov, Teodor Angelov, Teodora Chamova, Ivailo Tournev, Tanya Kadiyska, Vanyo Mitev, Albena Todorova

Genes (Basel) 2023 Nov; 14(11): 2023. Published online 2023 Oct 30. doi: 10.3390/genes14112023

PMCID:: PMC10671552

Article PDF–2.9M

Select item 1067124518.

Mitochondria, a Key Target in Amyotrophic Lateral Sclerosis Pathogenesis

Emmanuelle C. Genin, Mélanie Abou-Ali, Véronique Paquis-Flucklinger

Genes (Basel) 2023 Nov; 14(11): 1981. Published online 2023 Oct 24. doi: 10.3390/genes14111981

PMCID:: PMC10671245

Article PDF–1.3M

Select item 1065258219.

Neuronal dysfunction caused by FUSR521G promotes ALS-associated phenotypes that are attenuated by NF-κB inhibition

Mari Carmen Pelaez, Antoine Desmeules, Pauline A. Gelon, Bastien Glasson, Laetitia Marcadet, Alicia Rodgers, Daniel Phaneuf, Silvia Pozzi, Paul A. Dutchak, Jean-Pierre Julien, Chantelle F. Sephton

Acta Neuropathol Commun. 2023; 11: 182. Published online 2023 Nov 16. doi: 10.1186/s40478-023-01671-1

PMCID:: PMC10652582

Article PDF–4.6M

Select item 1064701220.

Intranasal neuropeptide Y1 receptor antagonism improves motor deficits in symptomatic SOD1 ALS mice

Rosemary M. Clark, Courtney M. Clark, Katherine E.A. Lewis, Marcus S. Dyer, Jyoti A. Chuckowree, Joshua A. Hoyle, Catherine A. Blizzard, Tracey C. Dickson

Ann Clin Transl Neurol. 2023 Nov; 10(11): 1985–1999. Published online 2023 Aug 29. doi: 10.1002/acn3.51885

PMCID:: PMC10647012

Article PDF–5.1M

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