Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

64 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis.
Harvey C, Weinreich M, Lee JAK, Shaw AC, Ferraiuolo L, Mortiboys H, Zhang S, Hop PJ, Zwamborn RAJ, van Eijk K, Julian TH, Moll T, Iacoangeli A, Al Khleifat A, Quinn JP, Pfaff AL, Kõks S, Poulton J, Battle SL, Arking DE, Snyder MP; Project MinE ALS Sequencing Consortium; Veldink JH, Kenna KP, Shaw PJ, Cooper-Knock J. Harvey C, et al. Among authors: ferraiuolo l. Heliyon. 2024 Jan 24;10(3):e24975. doi: 10.1016/j.heliyon.2024.e24975. eCollection 2024 Feb 15. Heliyon. 2024. PMID: 38317984 Free PMC article.
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).
Cox LE, Ferraiuolo L, Goodall EF, Heath PR, Higginbottom A, Mortiboys H, Hollinger HC, Hartley JA, Brockington A, Burness CE, Morrison KE, Wharton SB, Grierson AJ, Ince PG, Kirby J, Shaw PJ. Cox LE, et al. Among authors: ferraiuolo l. PLoS One. 2010 Mar 24;5(3):e9872. doi: 10.1371/journal.pone.0009872. PLoS One. 2010. PMID: 20352044 Free PMC article.
Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis.
Kirby J, Ning K, Ferraiuolo L, Heath PR, Ismail A, Kuo SW, Valori CF, Cox L, Sharrack B, Wharton SB, Ince PG, Shaw PJ, Azzouz M. Kirby J, et al. Among authors: ferraiuolo l. Brain. 2011 Feb;134(Pt 2):506-17. doi: 10.1093/brain/awq345. Epub 2011 Jan 12. Brain. 2011. PMID: 21228060 Free PMC article.
Gene expression profiling in human neurodegenerative disease.
Cooper-Knock J, Kirby J, Ferraiuolo L, Heath PR, Rattray M, Shaw PJ. Cooper-Knock J, et al. Among authors: ferraiuolo l. Nat Rev Neurol. 2012 Sep;8(9):518-30. doi: 10.1038/nrneurol.2012.156. Epub 2012 Aug 14. Nat Rev Neurol. 2012. PMID: 22890216 Review.
Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.
Highley JR, Kirby J, Jansweijer JA, Webb PS, Hewamadduma CA, Heath PR, Higginbottom A, Raman R, Ferraiuolo L, Cooper-Knock J, McDermott CJ, Wharton SB, Shaw PJ, Ince PG. Highley JR, et al. Among authors: ferraiuolo l. Neuropathol Appl Neurobiol. 2014 Oct;40(6):670-85. doi: 10.1111/nan.12148. Neuropathol Appl Neurobiol. 2014. PMID: 24750229
64 results