Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2017 | 1 |
2018 | 2 |
2019 | 1 |
2021 | 2 |
2022 | 1 |
2024 | 0 |
Search Results
7 results
Results by year
Filters applied: . Clear all
Page 1
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Nature. 2022 Mar;603(7899):131-137. doi: 10.1038/s41586-022-04436-3. Epub 2022 Feb 23.
Nature. 2022.
PMID: 35197628
Free PMC article.
ALS-related FUS mutations alter axon growth in motoneurons and affect HuD/ELAVL4 and FMRP activity.
Garone MG, Birsa N, Rosito M, Salaris F, Mochi M, de Turris V, Nair RR, Cunningham TJ, Fisher EMC, Morlando M, Fratta P, Rosa A.
Garone MG, et al.
Commun Biol. 2021 Sep 1;4(1):1025. doi: 10.1038/s42003-021-02538-8.
Commun Biol. 2021.
PMID: 34471224
Free PMC article.
Item in Clipboard
FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation.
Birsa N, Ule AM, Garone MG, Tsang B, Mattedi F, Chong PA, Humphrey J, Jarvis S, Pisiren M, Wilkins OG, Nosella ML, Devoy A, Bodo C, de la Fuente RF, Fisher EMC, Rosa A, Viero G, Forman-Kay JD, Schiavo G, Fratta P.
Birsa N, et al.
Sci Adv. 2021 Jul 21;7(30):eabf8660. doi: 10.1126/sciadv.abf8660. Print 2021 Jul.
Sci Adv. 2021.
PMID: 34290090
Free PMC article.
Item in Clipboard
Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosis.
De Giorgio F, Maduro C, Fisher EMC, Acevedo-Arozena A.
De Giorgio F, et al.
Dis Model Mech. 2019 Jan 2;12(1):dmm037424. doi: 10.1242/dmm.037424.
Dis Model Mech. 2019.
PMID: 30626575
Free PMC article.
Review.
Item in Clipboard
TDP-43 mutations increase HNRNP A1-7B through gain of splicing function.
Sivakumar P, De Giorgio F, Ule AM, Neeves J, Nair RR, Bentham M, Birsa N, Humphrey J, Plagnol V, Acevedo-Arozena A, Cunningham TJ, Fisher EMC, Fratta P.
Sivakumar P, et al.
Brain. 2018 Dec 1;141(12):e83. doi: 10.1093/brain/awy260.
Brain. 2018.
PMID: 30364928
No abstract available.
Item in Clipboard
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, Marrero-Gagliardi A, Stewart M, Mianne J, Corrochano S, Emmett W, Codner G, Groves M, Fukumura R, Gondo Y, Lythgoe M, Pauws E, Peskett E, Stanier P, Teboul L, Hallegger M, Calvo A, Chiò A, Isaacs AM, Fawzi NL, Wang E, Housman DE, Baralle F, Greensmith L, Buratti E, Plagnol V, Fisher EM, Acevedo-Arozena A.
Fratta P, et al.
EMBO J. 2018 Jun 1;37(11):e98684. doi: 10.15252/embj.201798684. Epub 2018 May 15.
EMBO J. 2018.
PMID: 29764981
Free PMC article.
Item in Clipboard
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.
Devoy A, Kalmar B, Stewart M, Park H, Burke B, Noy SJ, Redhead Y, Humphrey J, Lo K, Jaeger J, Mejia Maza A, Sivakumar P, Bertolin C, Soraru G, Plagnol V, Greensmith L, Acevedo Arozena A, Isaacs AM, Davies B, Fratta P, Fisher EMC.
Devoy A, et al.
Brain. 2017 Nov 1;140(11):2797-2805. doi: 10.1093/brain/awx248.
Brain. 2017.
PMID: 29053787
Free PMC article.
Item in Clipboard
Cite
Cite