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 |
---|---|
2012 | 1 |
2013 | 1 |
2014 | 2 |
2016 | 2 |
2024 | 0 |
Search Results
6 results
Results by year
Filters applied: . Clear all
Page 1
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.
Nat Commun. 2016 Apr 15;7:11253. doi: 10.1038/ncomms11253.
Nat Commun. 2016.
PMID: 27080313
Free PMC article.
ALS-linked protein disulfide isomerase variants cause motor dysfunction.
Woehlbier U, Colombo A, Saaranen MJ, Pérez V, Ojeda J, Bustos FJ, Andreu CI, Torres M, Valenzuela V, Medinas DB, Rozas P, Vidal RL, Lopez-Gonzalez R, Salameh J, Fernandez-Collemann S, Muñoz N, Matus S, Armisen R, Sagredo A, Palma K, Irrazabal T, Almeida S, Gonzalez-Perez P, Campero M, Gao FB, Henny P, van Zundert B, Ruddock LW, Concha ML, Henriquez JP, Brown RH, Hetz C.
Woehlbier U, et al.
EMBO J. 2016 Apr 15;35(8):845-65. doi: 10.15252/embj.201592224. Epub 2016 Feb 11.
EMBO J. 2016.
PMID: 26869642
Free PMC article.
Item in Clipboard
Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.
Kiskinis E, Sandoe J, Williams LA, Boulting GL, Moccia R, Wainger BJ, Han S, Peng T, Thams S, Mikkilineni S, Mellin C, Merkle FT, Davis-Dusenbery BN, Ziller M, Oakley D, Ichida J, Di Costanzo S, Atwater N, Maeder ML, Goodwin MJ, Nemesh J, Handsaker RE, Paull D, Noggle S, McCarroll SA, Joung JK, Woolf CJ, Brown RH, Eggan K.
Kiskinis E, et al.
Cell Stem Cell. 2014 Jun 5;14(6):781-95. doi: 10.1016/j.stem.2014.03.004. Epub 2014 Apr 3.
Cell Stem Cell. 2014.
PMID: 24704492
Free PMC article.
Item in Clipboard
Intrinsic membrane hyperexcitability of amyotrophic lateral sclerosis patient-derived motor neurons.
Wainger BJ, Kiskinis E, Mellin C, Wiskow O, Han SS, Sandoe J, Perez NP, Williams LA, Lee S, Boulting G, Berry JD, Brown RH Jr, Cudkowicz ME, Bean BP, Eggan K, Woolf CJ.
Wainger BJ, et al.
Cell Rep. 2014 Apr 10;7(1):1-11. doi: 10.1016/j.celrep.2014.03.019. Epub 2014 Apr 3.
Cell Rep. 2014.
PMID: 24703839
Free PMC article.
Item in Clipboard
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.
Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, Kurppa K, Moritoyo H, Belzil VV, Dion PA, Higasa K, Doi K, Ishiura H, Mitsui J, Date H, Ahsan B, Matsukawa T, Ichikawa Y, Moritoyo T, Ikoma M, Hashimoto T, Kimura F, Murayama S, Onodera O, Nishizawa M, Yoshida M, Atsuta N, Sobue G; JaCALS; Fifita JA, Williams KL, Blair IP, Nicholson GA, Gonzalez-Perez P, Brown RH Jr, Nomoto M, Elenius K, Rouleau GA, Fujiyama A, Morishita S, Goto J, Tsuji S.
Takahashi Y, et al.
Am J Hum Genet. 2013 Nov 7;93(5):900-5. doi: 10.1016/j.ajhg.2013.09.008. Epub 2013 Oct 10.
Am J Hum Genet. 2013.
PMID: 24119685
Free PMC article.
Item in Clipboard
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.
Wu CH, Fallini C, Ticozzi N, Keagle PJ, Sapp PC, Piotrowska K, Lowe P, Koppers M, McKenna-Yasek D, Baron DM, Kost JE, Gonzalez-Perez P, Fox AD, Adams J, Taroni F, Tiloca C, Leclerc AL, Chafe SC, Mangroo D, Moore MJ, Zitzewitz JA, Xu ZS, van den Berg LH, Glass JD, Siciliano G, Cirulli ET, Goldstein DB, Salachas F, Meininger V, Rossoll W, Ratti A, Gellera C, Bosco DA, Bassell GJ, Silani V, Drory VE, Brown RH Jr, Landers JE.
Wu CH, et al.
Nature. 2012 Aug 23;488(7412):499-503. doi: 10.1038/nature11280.
Nature. 2012.
PMID: 22801503
Free PMC article.
Item in Clipboard
Cite
Cite