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Select item 116963731.

Structural insights into the mechanism of phosphate recognition and transport by XPR1

Wenhui Zhang, Yanke Chen, Zeyuan Guan, Yong Wang, Meng Tang, Zhangmeng Du, Jie Zhang, Meng Cheng, Jiaqi Zuo, Yan Liu, Qiang Wang, Yanjun Liu, Delin Zhang, Ping Yin, Ling Ma, Zhu Liu

Nat Commun. 2025; 16: 18. Published online 2025 Jan 2. doi: 10.1038/s41467-024-55471-9

PMCID:: PMC11696373

Abstract Article PDF–3.1M

Select item 116609072.

Mutant huntingtin protein decreases with CAG repeat expansion: implications for therapeutics and bioassays

Christian Landles, Georgina F Osborne, Jemima Phillips, Maria Canibano-Pico, Iulia M Nita, Nadira Ali, Konstantin Bobkov, Jonathan R Greene, Kirupa Sathasivam, Gillian P Bates

Brain Commun. 2024; 6(6): fcae410. Published online 2024 Nov 15. doi: 10.1093/braincomms/fcae410

PMCID:: PMC11660907

Abstract Article PDF–2.2M

Select item 116547063.

A case report of fatal familial insomnia with cerebrospinal fluid leukocytosis during the COVID-19 epidemic and review of the literature

Zheng Wang, Yueqi Huang, Shuqi Wang, Jiefang Chen, Gesang Meiduo, Man Jin, Xiaoying Zhang

Prion. 2024; 18(1): 1–10. Published online 2024 Jan 16. doi: 10.1080/19336896.2023.2298520

PMCID:: PMC11654706

Abstract Article PDF–3.9M

Select item 116343594.

Longitudinal data collection in pediatric and adult patients with 5q spinal muscular atrophy in Latin America: LATAM RegistrAME study - a clinical registry study protocol

Elice Carneiro Batista, Edmar Zanoteli, Frederico Monfardini, Gustavo Prado dos Santos, Gisele Sampaio Silva, Otávio Berwanger, Luiz Vicente Rizzo, Henrique Andrade Rodrigues da Fonseca

Einstein (Sao Paulo) 2024; 22: eAE1133. Published online 2024 Nov 12. doi: 10.31744/einstein_journal/2024AE1133

PMCID:: PMC11634359

Abstract Article PDF–1.8M

Select item 116211085.

Increased nuclear import characterizes aberrant nucleocytoplasmic transport in neurons from patients with spinocerebellar ataxia type 7

Joshua G. Macopson-Jones, Maile Adams, Julien Philippe, Albert R. La Spada

Front Mol Neurosci. 2024; 17: 1478110. Published online 2024 Nov 22. doi: 10.3389/fnmol.2024.1478110

PMCID:: PMC11621108

Abstract Article PDF–8.2M

Select item 115603956.

Efficacy and Safety of Tetrabenazine in Reducing Chorea and Improving Motor Function in Individuals With Huntington's Disease: A Systematic Review

Nandini Vadlamani, Sabina Ibrahimli, Farees Ahmad Khan, Jason A Castillo, Kavya Sai Satya Amaravadi, Poornachandra Nalisetty, Safeera Khan

Cureus. 2024 Oct; 16(10): e71476. Published online 2024 Oct 14. doi: 10.7759/cureus.71476

PMCID:: PMC11560395

Abstract Article PDF–838K

Select item 115469287.

Neuroinflammatory Proteins in Huntington’s Disease: Insights into Mechanisms, Diagnosis, and Therapeutic Implications

Xinhui Li, Huichun Tong, Shuying Xu, Gongke Zhou, Tianqi Yang, Shurui Yin, Sitong Yang, Xiaojiang Li, Shihua Li

Int J Mol Sci. 2024 Nov; 25(21): 11787. Published online 2024 Nov 2. doi: 10.3390/ijms252111787

PMCID:: PMC11546928

Abstract Article PDF–2.8M

Select item 115458908.

SMN2 Copy Number Association with Spinal Muscular Atrophy Severity: Insights from Colombian Patients

José Lamadrid-González, Sandra Castellar-Leones, Julio César Contreras-Velásquez, Valmore Bermúdez

J Clin Med. 2024 Nov; 13(21): 6402. Published online 2024 Oct 25. doi: 10.3390/jcm13216402

PMCID:: PMC11545890

Abstract Article PDF–533K

Select item 115219299.

Case report: Asymmetric bilateral deep brain stimulation for the treatment of pantothenate kinase-associated neurodegeneration in a patient: a unique case of atypical PKAN with a novel heterozygous PANK2 mutation

Guo Hong, Zhongwen Zhang, Peiyi Wang, Guoyang Li, Wenli Zhang, Huahui Zou, Xiaoguang Luo

Front Hum Neurosci. 2024; 18: 1448606. Published online 2024 Oct 16. doi: 10.3389/fnhum.2024.1448606

PMCID:: PMC11521929

Abstract Article PDF–710K

Select item 1146970310.

Subjective Valuation of Screening for Spinal Muscular Atrophy and Analysis of its Influencing Factors: Evidence from Iran

Majid Khosravi, Aziz Rezapour, Najmeh Moradi, Setare Nassiri Zeidi, Namamali Azadi

Med J Islam Repub Iran. 2024; 38: 54. Published online 2024 May 14. doi: 10.47176/mjiri.38.54

PMCID:: PMC11469703

Abstract Article PDF–471K

Select item 1144019711.

Oleuropein enhances proteasomal activity and reduces mutant huntingtin-induced cytotoxicity

Zih-Ning Huang, Sin-Yi Lee, Jie-Mao Chen, Zih-Ting Huang, Lu-Shiun Her

Front Pharmacol. 2024; 15: 1459909. Published online 2024 Sep 13. doi: 10.3389/fphar.2024.1459909

PMCID:: PMC11440197

Abstract Article PDF–3.0M

Select item 1137360512.

AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS neurons

Connor J. Maltby, Amy Krans, Samantha J. Grudzien, Yomira Palacios, Jessica Muiños, Andrea Suárez, Melissa Asher, Sydney Willey, Kinsey Van Deynze, Camille Mumm, Alan P. Boyle, Andrea Cortese, Alain Ndayisaba, Vikram Khurana, Sami J. Barmada, Anke A. Dijkstra, Peter K. Todd

Sci Adv. 2024 Sep 6; 10(36): eadn2321. Published online 2024 Sep 4. doi: 10.1126/sciadv.adn2321

PMCID:: PMC11373605

Abstract Article PDF–4.1M

Select item 1137039613.

A Neural Basis for Mutant ATAXIN-1 Induced Respiratory Dysfunction in Mouse Models of Spinocerebellar Ataxia Type 1

Alyssa Soles, Jessica Grittner, Kaia Douglas, Praseuth Yang, Ryan Barnett, Christine Chau, Roj Cosiquien, Lisa Duvick, Orion Rainwater, Shannah Serres, Harry Orr, Brendan Dougherty, Marija Cvetanovic

Version 1. bioRxiv. Preprint. 2024 Aug 20. doi: 10.1101/2024.08.20.608114

PMCID:: PMC11370396

Abstract Article

Select item 1136764614.

Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1

Sonali Mishra, Pamela Kell, David Scherrer, Dennis J. Dietzen, Charles H. Vite, Elizabeth Berry-Kravis, Cristin Davidson, Stephanie M. Cologna, Forbes D. Porter, Daniel S. Ory, Xuntian Jiang

J Lipid Res. 2024 Aug; 65(8): 100600. Published online 2024 Jul 22. doi: 10.1016/j.jlr.2024.100600

PMCID:: PMC11367646

Abstract Article PDF–1.8M

Select item 1123130915.

Sex contribution to average age at onset of Huntington’s disease depends on the number of (CAG)_n repeats

Anna Stanisławska-Sachadyn, Michał Krzemiński, Daniel Zielonka, Magdalena Krygier, Ewa Ziętkiewicz, Jarosław Sławek, Janusz Limon, REGISTRY investigators of the European Huntington’s Disease Network (EHDN)

Sci Rep. 2024; 14: 15729. Published online 2024 Jul 8. doi: 10.1038/s41598-024-64105-5