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 |
---|---|
1998 | 1 |
1999 | 1 |
2012 | 1 |
2013 | 1 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.
Am J Hum Genet. 1998 Dec;63(6):1609-21. doi: 10.1086/302150.
Am J Hum Genet. 1998.
PMID: 9837813
Free PMC article.
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.
Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L, Freisinger P, Bindoff L, Gerbitz KD, Comi GP, Uziel G, Zeviani M, Meitinger T.
Tiranti V, et al.
Ann Neurol. 1999 Aug;46(2):161-6. doi: 10.1002/1531-8249(199908)46:2<161::aid-ana4>3.0.co;2-o.
Ann Neurol. 1999.
PMID: 10443880
Item in Clipboard
SURF1-associated Leigh syndrome: a case series and novel mutations.
Lee IC, El-Hattab AW, Wang J, Li FY, Weng SW, Craigen WJ, Wong LJ.
Lee IC, et al.
Hum Mutat. 2012 Aug;33(8):1192-200. doi: 10.1002/humu.22095. Epub 2012 Apr 30.
Hum Mutat. 2012.
PMID: 22488715
Item in Clipboard
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.
Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayençon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M, Mousson de Camaret B.
Echaniz-Laguna A, et al.
Neurology. 2013 Oct 22;81(17):1523-30. doi: 10.1212/WNL.0b013e3182a4a518. Epub 2013 Sep 11.
Neurology. 2013.
PMID: 24027061
Free PMC article.
Item in Clipboard
Cite
Cite