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
Search Results
7 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genet Med. 2021 Dec;23(12):2415-2425. doi: 10.1038/s41436-021-01296-6. Epub 2021 Aug 16.
Genet Med. 2021.
PMID: 34400813
Free PMC article.
De novo mtDNA point mutations are common and have a low recurrence risk.
Sallevelt SC, de Die-Smulders CE, Hendrickx AT, Hellebrekers DM, de Coo IF, Alston CL, Knowles C, Taylor RW, McFarland R, Smeets HJ.
Sallevelt SC, et al.
J Med Genet. 2017 Feb;54(2):73-83. doi: 10.1136/jmedgenet-2016-103876. Epub 2016 Jul 22.
J Med Genet. 2017.
PMID: 27450679
Free PMC article.
Item in Clipboard
Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome.
Schoeman EM, Van Der Westhuizen FH, Erasmus E, van Dyk E, Knowles CV, Al-Ali S, Ng WF, Taylor RW, Newton JL, Elson JL.
Schoeman EM, et al. Among authors: knowles cv.
BMC Med Genet. 2017 Mar 16;18(1):29. doi: 10.1186/s12881-017-0387-6.
BMC Med Genet. 2017.
PMID: 28302057
Free PMC article.
Item in Clipboard
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS.
Sommerville EW, et al.
JAMA Neurol. 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357.
JAMA Neurol. 2017.
PMID: 28395030
Free PMC article.
Item in Clipboard
Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls.
Reimann J, Lehmann D, Hardy SA, Falkous G, Knowles CV, Jones RL, Kunz WS, Taylor RW, Kornblum C.
Reimann J, et al. Among authors: knowles cv.
Neurol Genet. 2017 Apr 5;3(3):e147. doi: 10.1212/NXG.0000000000000147. eCollection 2017 Jun.
Neurol Genet. 2017.
PMID: 28396884
Free PMC article.
No abstract available.
Item in Clipboard
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K.
Guimier A, et al. Among authors: knowles cv.
Genet Med. 2022 Apr;24(4):967. doi: 10.1016/j.gim.2022.02.002.
Genet Med. 2022.
PMID: 35394429
Free article.
No abstract available.
Item in Clipboard
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.
Mavraki E, Labrum R, Sergeant K, Alston CL, Woodward C, Smith C, Knowles CVY, Patel Y, Hodsdon P, Baines JP, Blakely EL, Polke J, Taylor RW, Fratter C.
Mavraki E, et al. Among authors: knowles cvy.
Eur J Hum Genet. 2023 Feb;31(2):148-163. doi: 10.1038/s41431-022-01249-w. Epub 2022 Dec 13.
Eur J Hum Genet. 2023.
PMID: 36513735
Free PMC article.
Item in Clipboard
Cite
Cite