U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 500

1.
Distinct neuroinflammatory signatures exist across genetic and sporadic amyotrophic lateral sclerosis cohorts
Olivia M Rifai, Judi O’Shaughnessy, Owen R Dando, Alison F Munro, Michael D E Sewell, Sharon Abrahams, Fergal M Waldron, Christopher R Sibley, Jenna M Gregory
Brain. 2023 Dec; 146(12): 5124–5138. Published online 2023 Jul 14. doi: 10.1093/brain/awad243
PMCID:
PMC10690026
ArticlePubReaderPDF–40MCite
2.
Persistent NRG1 Type III Overexpression in Spinal Motor Neurons Has No Therapeutic Effect on ALS-Related Pathology in SOD1G93A Mice
Sara Hernández, Sara Salvany, Anna Casanovas, Lídia Piedrafita, M. Clara Soto-Bernardini, Olga Tarabal, Alba Blasco, Sílvia Gras, Alaó Gatius, Markus H. Schwab, Jordi Calderó, Josep E. Esquerda
Neurotherapeutics. 2023 Oct; 20(6): 1820–1834. Published online 2023 Sep 21. doi: 10.1007/s13311-023-01424-x
PMCID:
PMC10684470
ArticlePubReaderPDF–12MCite
3.
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
ArticlePubReaderPDF–2.9MCite
4.
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
ArticlePubReaderPDF–1.3MCite
5.
ALS/FTD-associated mutation in cyclin F inhibits ER-Golgi trafficking, inducing ER stress, ERAD and Golgi fragmentation
Audrey M. G. Ragagnin, Vinod Sundaramoorthy, Fabiha Farzana, Shashi Gautam, Sayanthooran Saravanabavan, Zeinab Takalloo, Prachi Mehta, Dzung Do-Ha, Sonam Parakh, Sina Shadfar, Julie Hunter, Marta Vidal, Cyril J. Jagaraj, Mariana Brocardo, Anna Konopka, Shu Yang, Stephanie L. Rayner, Kelly L. Williams, Ian P. Blair, Roger S. Chung, Albert Lee, Lezanne Ooi, Julie D. Atkin
Sci Rep. 2023; 13: 20467. Published online 2023 Nov 22. doi: 10.1038/s41598-023-46802-9
PMCID:
PMC10665471
ArticlePubReaderPDF–11MCite
6.
Amplifying the Heat Shock Response Ameliorates ALS and FTD Pathology in Mouse and Human Models
Mhoriam Ahmed, Charlotte Spicer, Jasmine Harley, J. Paul Taylor, Michael Hanna, Rickie Patani, Linda Greensmith
Mol Neurobiol. 2023; 60(12): 6896–6915. Published online 2023 Jul 29. doi: 10.1007/s12035-023-03509-2
PMCID:
PMC10657827
ArticlePubReaderPDF–9.2MCite
7.
Genetic Insights into the Risk of Metabolic Syndrome and Its Components on Dementia: A Mendelian Randomization
Qiang He, Wenjing Wang, Hao Li, Yang Xiong, Chuanyuan Tao, Lu Ma, Chao You
J Alzheimers Dis. 2023; 96(2): 725–743. Prepublished online 2023 Oct 9. Published online 2023 Nov 7. doi: 10.3233/JAD-230623
PMCID:
PMC10657705
ArticlePubReaderPDF–1.0MCite
8.
Multi-modal proteomic characterization of lysosomal function and proteostasis in progranulin-deficient neurons
Saadia Hasan, Michael S. Fernandopulle, Stewart W. Humble, Ashley M. Frankenfield, Haorong Li, Ryan Prestil, Kory R. Johnson, Brent J. Ryan, Richard Wade-Martins, Michael E. Ward, Ling Hao
Mol Neurodegener. 2023; 18: 87. Published online 2023 Nov 16. doi: 10.1186/s13024-023-00673-w
PMCID:
PMC10655356
ArticlePubReaderPDF–13MCite
9.
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
ArticlePubReaderPDF–4.6MCite
10.
ALS-linked CCNF variant disrupts motor neuron ubiquitin homeostasis
Natalie E Farrawell, Monique Bax, Luke McAlary, Jessie McKenna, Simon Maksour, Dzung Do-Ha, Stephanie L Rayner, Ian P Blair, Roger S Chung, Justin J Yerbury, Lezanne Ooi, Darren N Saunders
Hum Mol Genet. 2023 Jul 15; 32(14): 2386–2398. Published online 2023 May 23. doi: 10.1093/hmg/ddad063
PMCID:
PMC10652331
ArticlePubReaderPDF–1.6MCite
11.
Altered plasma protein profiles in genetic FTD – a GENFI study
Abbe Ullgren, Linn Öijerstedt, Jennie Olofsson, Sofia Bergström, Julia Remnestål, John C. van Swieten, Lize C. Jiskoot, Harro Seelaar, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Matthis Synofzik, Daniela Galimberti, James B. Rowe, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Pietro Tirabosch, Isabel Santana, Simon Ducharme, Chris R. Butler, Alexander Gerhard, Markus Otto, Arabella Bouzigues, Lucy Russell, Imogen J. Swift, Aitana Sogorb-Esteve, Carolin Heller, Jonathan D. Rohrer, Anna Månberg, Peter Nilsson, Caroline Graff, on behalf of the Genetic Frontotemporal Dementia Initiative (GENFI)
Mol Neurodegener. 2023; 18: 85. Published online 2023 Nov 15. doi: 10.1186/s13024-023-00677-6
PMCID:
PMC10648335
ArticlePubReaderPDF–1.0MCite
12.
Targeting Progranulin as an Immuno-Neurology Therapeutic Approach
Maria A. Boylan, Andrew Pincetic, Gary Romano, Nadine Tatton, Sara Kenkare-Mitra, Arnon Rosenthal
Int J Mol Sci. 2023 Nov; 24(21): 15946. Published online 2023 Nov 3. doi: 10.3390/ijms242115946
PMCID:
PMC10647331
ArticlePubReaderPDF–2.2MCite
13.
Mutation in the FUS nuclear localisation signal domain causes neurodevelopmental and systemic metabolic alterations
Zeinab Ali, Juan M. Godoy-Corchuelo, Aurea B. Martins-Bach, Irene Garcia-Toledo, Luis C. Fernández-Beltrán, Remya R. Nair, Shoshana Spring, Brian J. Nieman, Irene Jimenez-Coca, Rasneer S. Bains, Hamish Forrest, Jason P. Lerch, Karla L. Miller, Elizabeth M. C. Fisher, Thomas J. Cunningham, Silvia Corrochano
Dis Model Mech. 2023 Oct 1; 16(10): dmm050200. Published online 2023 Oct 23. doi: 10.1242/dmm.050200
PMCID:
PMC10642611
ArticlePubReaderCite
14.
Heterogeneity of cortical pTDP-43 inclusion morphologies in amyotrophic lateral sclerosis
Rachel H. Tan, Heather McCann, Claire E. Shepherd, Monica Pinkerton, Srestha Mazumder, Emma M. Devenney, Gabrielle L. Adler, Dominic B. Rowe, Jillian Kril, Glenda M. Halliday, Matthew C. Kiernan
Acta Neuropathol Commun. 2023; 11: 180. Published online 2023 Nov 13. doi: 10.1186/s40478-023-01670-2
PMCID:
PMC10642010
ArticlePubReaderPDF–3.3MCite
15.
Dysregulation of the progranulin-driven autophagy-lysosomal pathway mediates secretion of the nuclear protein TDP-43
Yoshinori Tanaka, Shun-ichi Ito, Yuki Honma, Masato Hasegawa, Fuyuki Kametani, Genjiro Suzuki, Lina Kozuma, Kosuke Takeya, Masumi Eto
J Biol Chem. 2023 Nov; 299(11): 105272. Published online 2023 Sep 20. doi: 10.1016/j.jbc.2023.105272
PMCID:
PMC10641265
ArticlePubReaderPDF–5.9MCite
16.
CLIP-Seq analysis enables the design of protective ribosomal RNA bait oligonucleotides against C9ORF72 ALS/FTD poly-GR pathophysiology
Juan A. Ortega, Ivan R. Sasselli, Marco Boccitto, Andrew C. Fleming, Tyler R. Fortuna, Yichen Li, Kohei Sato, Tristan D. Clemons, Elizabeth D. Mckenna, Thao P. Nguyen, Eric N. Anderson, Jesus Asin, Justin K. Ichida, Udai B. Pandey, Sandra L. Wolin, Samuel I. Stupp, Evangelos Kiskinis
Sci Adv. 2023 Nov 10; 9(45): eadf7997. Published online 2023 Nov 10. doi: 10.1126/sciadv.adf7997
PMCID:
PMC10637751
ArticlePubReaderPDF–2.7MCite
17.
The involvement of language‐associated networks, tracts, and cortical regions in frontotemporal dementia and amyotrophic lateral sclerosis: Structural and functional alterations
Marlene Tahedl, Ee Ling Tan, Rangariroyashe H. Chipika, Jasmin Lope, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Siobhan Hutchinson, Mary Clare McKenna, Peter Bede
Brain Behav. 2023 Nov; 13(11): e3250. Published online 2023 Sep 11. doi: 10.1002/brb3.3250
PMCID:
PMC10636407
ArticlePubReaderPDF–4.5MCite
18.
Genetic risk factor clustering within and across neurodegenerative diseases
Mathew J Koretsky, Chelsea Alvarado, Mary B Makarious, Dan Vitale, Kristin Levine, Sara Bandres-Ciga, Anant Dadu, Sonja W Scholz, Lana Sargent, Faraz Faghri, Hirotaka Iwaki, Cornelis Blauwendraat, Andrew Singleton, Mike Nalls, Hampton Leonard
Brain. 2023 Nov; 146(11): 4486–4494. Published online 2023 May 16. doi: 10.1093/brain/awad161
PMCID:
PMC10629980
ArticlePubReaderPDF–486KCite
19.
An analysis of variants in TARDBP in the Korean population with amyotrophic lateral sclerosis: comparison with previous data
Wonjae Sung, Jin-Ah Kim, Yong Sung Kim, Jinseok Park, Ki-Wook Oh, Jung-Joon Sung, Chang-Seok Ki, Young-Eun Kim, Seung Hyun Kim
Sci Rep. 2023; 13: 18805. Published online 2023 Nov 1. doi: 10.1038/s41598-023-45593-3
PMCID:
PMC10620191
ArticlePubReaderPDF–994KCite
20.
Early activation of cellular stress and death pathways caused by cytoplasmic TDP-43 in the rNLS8 mouse model of ALS and FTD
Wei Luan, Amanda L. Wright, Heledd Brown-Wright, Sheng Le, Rebecca San Gil, Lidia Madrid San Martin, Karen Ling, Paymaan Jafar-Nejad, Frank Rigo, Adam K. Walker
Mol Psychiatry. 2023; 28(6): 2445–2461. Published online 2023 Apr 3. doi: 10.1038/s41380-023-02036-9
PMCID:
PMC10611572
ArticlePubReaderPDF–6.0MCite

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center