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Items: 1 to 50 of 93

1.

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.

Grady JP, Pickett SJ, Ng YS, Alston CL, Blakely EL, Hardy SA, Feeney CL, Bright AA, Schaefer AM, Gorman GS, McNally RJ, Taylor RW, Turnbull DM, McFarland R.

EMBO Mol Med. 2018 May 7. pii: e8262. doi: 10.15252/emmm.201708262. [Epub ahead of print]

2.

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.

Ng YS, Lax NZ, Maddison P, Alston CL, Blakely EL, Hepplewhite PD, Riordan G, Meldau S, Chinnery PF, Pierre G, Chronopoulou E, Du A, Hughes I, Morris AA, Kamakari S, Chrousos G, Rodenburg RJ, Saris CGJ, Feeney C, Hardy SA, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna MG, Ohtake A, Schaefer AM, Champion MP, Turnbull DM, Taylor RW, Pitceathly RDS, McFarland R, Gorman GS.

EBioMedicine. 2018 Apr;30:86-93. doi: 10.1016/j.ebiom.2018.02.010. Epub 2018 Feb 24.

3.

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).

Lenz D, McClean P, Kansu A, Bonnen PE, Ranucci G, Thiel C, Straub BK, Harting I, Alhaddad B, Dimitrov B, Kotzaeridou U, Wenning D, Iorio R, Himes RW, Kuloğlu Z, Blakely EL, Taylor RW, Meitinger T, Kölker S, Prokisch H, Hoffmann GF, Haack TB, Staufner C.

Genet Med. 2018 Feb 8. doi: 10.1038/gim.2017.260. [Epub ahead of print]

PMID:
29419818
4.

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.

Rocha MC, Rosa HS, Grady JP, Blakely EL, He L, Romain N, Haller RG, Newman J, McFarland R, Ng YS, Gorman GS, Schaefer AM, Tuppen HA, Taylor RW, Turnbull DM.

Ann Neurol. 2018 Jan;83(1):115-130. doi: 10.1002/ana.25127.

5.

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia.

Sommerville EW, Jones RL, Hardy SA, Blakely EL, Pyle A, Schaefer AM, Chinnery PF, Turnbull DM, Gorman GS, Taylor RW.

Neurol Genet. 2017 Dec 15;3(6):e202. doi: 10.1212/NXG.0000000000000202. eCollection 2017 Dec. No abstract available.

6.

Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant.

Gill JS, Hardy SA, Blakely EL, Hopton S, Nemeth AH, Fratter C, Poulton J, Taylor RW, Downes SM.

Br J Ophthalmol. 2017 Sep;101(9):1298-1302. doi: 10.1136/bjophthalmol-2017-310370. Epub 2017 Jul 20.

7.

NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME.

Kozak I, Oystreck DT, Abu-Amero KK, Nowilaty SR, Alkhalidi H, Elkhamary SM, Mohamed S, Hamad MH, Salih MA, Blakely EL, Taylor RW, Bosley TM.

Retin Cases Brief Rep. 2016 Dec 19. doi: 10.1097/ICB.0000000000000503. [Epub ahead of print]

PMID:
28296806
8.

POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.

Van Maldergem L, Besse A, De Paepe B, Blakely EL, Appadurai V, Humble MM, Piard J, Craig K, He L, Hella P, Debray FG, Martin JJ, Gaussen M, Laloux P, Stevanin G, Van Coster R, Taylor RW, Copeland WC, Mormont E, Bonnen PE.

Ann Clin Transl Neurol. 2016 Nov 16;4(1):4-14. doi: 10.1002/acn3.361. eCollection 2017 Jan.

9.

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

Hardy SA, Blakely EL, Purvis AI, Rocha MC, Ahmed S, Falkous G, Poulton J, Rose MR, O'Mahony O, Bermingham N, Dougan CF, Ng YS, Horvath R, Turnbull DM, Gorman GS, Taylor RW.

Neurol Genet. 2016 Jun 23;2(4):e82. doi: 10.1212/NXG.0000000000000082. eCollection 2016 Aug.

10.

Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report.

Gupta A, Colmenero I, Ragge NK, Blakely EL, He L, McFarland R, Taylor RW, Vogt J, Milford DV.

BMC Res Notes. 2016 Jun 27;9:325. doi: 10.1186/s13104-016-2131-2.

11.

The frequency of the m.1555A>G (MTRNR1) variant in UK patients with suspected mitochondrial deafness.

Kullar P, Alston CL, Ball S, Blakely EL, Differ AM, Fratter C, Sweeney MG, Taylor RW, Chinnery PF.

Hearing Balance Commun. 2016;14(2):101-102. Epub 2016 May 20. No abstract available.

12.

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

Dombi E, Diot A, Morten K, Carver J, Lodge T, Fratter C, Ng YS, Liao C, Muir R, Blakely EL, Hargreaves I, Al-Dosary M, Sarkar G, Hickman SJ, Downes SM, Jayawant S, Yu-Wai-Man P, Taylor RW, Poulton J.

Neurology. 2016 May 17;86(20):1921-3. doi: 10.1212/WNL.0000000000002688. Epub 2016 Apr 22. No abstract available.

13.

Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis.

Rygiel KA, Tuppen HA, Grady JP, Vincent A, Blakely EL, Reeve AK, Taylor RW, Picard M, Miller J, Turnbull DM.

Nucleic Acids Res. 2016 Jun 20;44(11):5313-29. doi: 10.1093/nar/gkw382. Epub 2016 Apr 30.

14.

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.

Martikainen MH, Ng YS, Gorman GS, Alston CL, Blakely EL, Schaefer AM, Chinnery PF, Burn DJ, Taylor RW, McFarland R, Turnbull DM.

JAMA Neurol. 2016 Jun 1;73(6):668-74. doi: 10.1001/jamaneurol.2016.0355.

PMID:
27111573
15.

Mitochondrial pathology in progressive cerebellar ataxia.

Bargiela D, Shanmugarajah P, Lo C, Blakely EL, Taylor RW, Horvath R, Wharton S, Chinnery PF, Hadjivassiliou M.

Cerebellum Ataxias. 2015 Dec 4;2:16. doi: 10.1186/s40673-015-0035-x. eCollection 2015.

16.

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

Alston CL, Ceccatelli Berti C, Blakely EL, Oláhová M, He L, McMahon CJ, Olpin SE, Hargreaves IP, Nolli C, McFarland R, Goffrini P, O'Sullivan MJ, Taylor RW.

Hum Genet. 2015 Aug;134(8):869-79. doi: 10.1007/s00439-015-1568-z. Epub 2015 May 26.

17.

Clinical and pathological features of mitochondrial DNA deletion disease following antiretroviral treatment.

Payne BA, Gardner K, Blakely EL, Maddison P, Horvath R, Taylor RW, Chinnery PF.

JAMA Neurol. 2015 May;72(5):603-5. doi: 10.1001/jamaneurol.2015.0150. No abstract available.

PMID:
25961175
18.

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.

Lehmann D, Schubert K, Joshi PR, Hardy SA, Tuppen HA, Baty K, Blakely EL, Bamberg C, Zierz S, Deschauer M, Taylor RW.

Eur J Hum Genet. 2015 Dec;23(12):1735-8. doi: 10.1038/ejhg.2015.73. Epub 2015 Apr 15.

19.

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.

Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, Taylor RW, Turnbull DM, McFarland R.

Ann Neurol. 2015 May;77(5):753-9. doi: 10.1002/ana.24362. Epub 2015 Mar 28.

20.

Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.

Gorman GS, Blakely EL, Hornig-Do HT, Tuppen HA, Greaves LC, He L, Baker A, Falkous G, Newman J, Trenell MI, Lecky B, Petty RK, Turnbull DM, McFarland R, Taylor RW.

Clin Sci (Lond). 2015 Jun;128(12):895-904. doi: 10.1042/CS20140705.

21.

Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle.

Grady JP, Murphy JL, Blakely EL, Haller RG, Taylor RW, Turnbull DM, Tuppen HA.

PLoS One. 2014 Dec 4;9(12):e114462. doi: 10.1371/journal.pone.0114462. eCollection 2014.

22.

A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease.

Lehmann D, Schubert K, Joshi PR, Baty K, Blakely EL, Zierz S, Taylor RW, Deschauer M.

Neuromuscul Disord. 2015 Jan;25(1):81-4. doi: 10.1016/j.nmd.2014.09.008. Epub 2014 Sep 28.

23.

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

Gorman GS, Pfeffer G, Griffin H, Blakely EL, Kurzawa-Akanbi M, Gabriel J, Sitarz K, Roberts M, Schoser B, Pyle A, Schaefer AM, McFarland R, Turnbull DM, Horvath R, Chinnery PF, Taylor RW.

JAMA Neurol. 2015 Jan;72(1):106-11. doi: 10.1001/jamaneurol.2014.1753.

PMID:
25420100
24.

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF.

JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184.

PMID:
25058219
25.

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.

Yarham JW, Lamichhane TN, Pyle A, Mattijssen S, Baruffini E, Bruni F, Donnini C, Vassilev A, He L, Blakely EL, Griffin H, Santibanez-Koref M, Bindoff LA, Ferrero I, Chinnery PF, McFarland R, Maraia RJ, Taylor RW.

PLoS Genet. 2014 Jun 5;10(6):e1004424. doi: 10.1371/journal.pgen.1004424. eCollection 2014 Jun.

26.

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.

Griffin HR, Pyle A, Blakely EL, Alston CL, Duff J, Hudson G, Horvath R, Wilson IJ, Santibanez-Koref M, Taylor RW, Chinnery PF.

Genet Med. 2014 Dec;16(12):962-71. doi: 10.1038/gim.2014.66. Epub 2014 Jun 5.

27.

Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation.

Blakely EL, Alston CL, Lecky B, Chakrabarti B, Falkous G, Turnbull DM, Taylor RW, Gorman GS.

Neuromuscul Disord. 2014 Jun;24(6):533-6. doi: 10.1016/j.nmd.2014.03.011. Epub 2014 Apr 1.

28.

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF.

Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10.

29.

A national perspective on prenatal testing for mitochondrial disease.

Nesbitt V, Alston CL, Blakely EL, Fratter C, Feeney CL, Poulton J, Brown GK, Turnbull DM, Taylor RW, McFarland R.

Eur J Hum Genet. 2014 Nov;22(11):1255-9. doi: 10.1038/ejhg.2014.35. Epub 2014 Mar 19.

30.

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.

Pyle A, Ramesh V, Bartsakoulia M, Boczonadi V, Gomez-Duran A, Herczegfalvi A, Blakely EL, Smertenko T, Duff J, Eglon G, Moore D, Yu-Wai-Man P, Douroudis K, Santibanez-Koref M, Griffin H, Lochmüller H, Karcagi V, Taylor RW, Chinnery PF, Horvath R.

J Neuromuscul Dis. 2014;1(1):55-63. doi: 10.3233/JND-140003.

31.

Disease progression in patients with single, large-scale mitochondrial DNA deletions.

Grady JP, Campbell G, Ratnaike T, Blakely EL, Falkous G, Nesbitt V, Schaefer AM, McNally RJ, Gorman GS, Taylor RW, Turnbull DM, McFarland R.

Brain. 2014 Feb;137(Pt 2):323-34. doi: 10.1093/brain/awt321. Epub 2013 Nov 25.

32.

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.

Alston CL, Schaefer AM, Raman P, Solaroli N, Krishnan KJ, Blakely EL, He L, Craig K, Roberts M, Vyas A, Nixon J, Horvath R, Turnbull DM, Karlsson A, Gorman GS, Taylor RW.

Neurology. 2013 Dec 3;81(23):2051-3. doi: 10.1212/01.wnl.0000436931.94291.e6. Epub 2013 Nov 6.

33.

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.

Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M, Ghezzi D.

Hum Mutat. 2013 Nov;34(11):1501-9. doi: 10.1002/humu.22393. Epub 2013 Sep 17.

34.

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies.

Spendiff S, Reza M, Murphy JL, Gorman G, Blakely EL, Taylor RW, Horvath R, Campbell G, Newman J, Lochmüller H, Turnbull DM.

Hum Mol Genet. 2013 Dec 1;22(23):4739-47. doi: 10.1093/hmg/ddt327. Epub 2013 Jul 11.

35.

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.

Blakely EL, Yarham JW, Alston CL, Craig K, Poulton J, Brierley C, Park SM, Dean A, Xuereb JH, Anderson KN, Compston A, Allen C, Sharif S, Enevoldson P, Wilson M, Hammans SR, Turnbull DM, McFarland R, Taylor RW.

Hum Mutat. 2013 Sep;34(9):1260-8. doi: 10.1002/humu.22358.

36.

Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities.

Henderson M, De Waele L, Hudson J, Eagle M, Sewry C, Marsh J, Charlton R, He L, Blakely EL, Horrocks I, Stewart W, Taylor RW, Longman C, Bushby K, Barresi R.

Acta Neuropathol. 2013 Jun;125(6):917-9. doi: 10.1007/s00401-013-1113-x. Epub 2013 Apr 11. No abstract available.

PMID:
23575897
37.

Bilateral paediatric optic neuropathy precipitated by vitamin B12 deficiency and a novel mitochondrial DNA mutation.

Jalil A, Usmani HA, Khan MI, Blakely EL, Taylor RW, Vassallo G, Ashworth J.

Int Ophthalmol. 2013 Dec;33(6):687-90. doi: 10.1007/s10792-013-9773-z. Epub 2013 Apr 10.

PMID:
23572439
38.

The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.

Yarham JW, Blakely EL, Alston CL, Roberts ME, Ealing J, Pal P, Turnbull DM, McFarland R, Taylor RW.

J Neurol Sci. 2013 Feb 15;325(1-2):165-9. doi: 10.1016/j.jns.2012.12.003. Epub 2012 Dec 27.

39.

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

Pitceathly RD, Smith C, Fratter C, Alston CL, He L, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS.

Brain. 2012 Nov;135(Pt 11):3392-403. doi: 10.1093/brain/aws231. Epub 2012 Oct 29.

40.

Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.

Kinghorn KJ, Kaliakatsos M, Blakely EL, Taylor RW, Rich P, Clarke A, Omer S.

J Neurol. 2013 Jan;260(1):3-9. doi: 10.1007/s00415-012-6564-9. Epub 2012 Jun 24. Review.

PMID:
22729384
41.

Cytochrome c oxidase-intermediate fibres: importance in understanding the pathogenesis and treatment of mitochondrial myopathy.

Murphy JL, Ratnaike TE, Shang E, Falkous G, Blakely EL, Alston CL, Taivassalo T, Haller RG, Taylor RW, Turnbull DM.

Neuromuscul Disord. 2012 Aug;22(8):690-8. doi: 10.1016/j.nmd.2012.04.003. Epub 2012 May 28.

42.

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations.

Pfeffer G, Blakely EL, Alston CL, Hassani A, Boggild M, Horvath R, Samuels DC, Taylor RW, Chinnery PF.

J Neurol Neurosurg Psychiatry. 2012 Sep;83(9):883-6. doi: 10.1136/jnnp-2012-302568. Epub 2012 May 10.

43.

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.

Blakely EL, Butterworth A, Hadden RD, Bodi I, He L, McFarland R, Taylor RW.

Neuromuscul Disord. 2012 Jul;22(7):587-91. doi: 10.1016/j.nmd.2012.03.006. Epub 2012 Apr 14.

44.

Loss of myelin-associated glycoprotein in kearns-sayre syndrome.

Lax NZ, Campbell GR, Reeve AK, Ohno N, Zambonin J, Blakely EL, Taylor RW, Bonilla E, Tanji K, DiMauro S, Jaros E, Lassmann H, Turnbull DM, Mahad DJ.

Arch Neurol. 2012 Apr;69(4):490-9. doi: 10.1001/archneurol.2011.2167.

45.

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

Tuppen HA, Naess K, Kennaway NG, Al-Dosary M, Lesko N, Yarham JW, Bruhn H, Wibom R, Nennesmo I, Weleber RG, Blakely EL, Taylor RW, McFarland R.

Eur J Hum Genet. 2012 Aug;20(8):897-904. doi: 10.1038/ejhg.2012.44. Epub 2012 Feb 29. Erratum in: Eur J Hum Genet. 2012 Aug;20(8):910.

46.

Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

Lax NZ, Whittaker RG, Hepplewhite PD, Reeve AK, Blakely EL, Jaros E, Ince PG, Taylor RW, Fawcett PR, Turnbull DM.

Brain. 2012 Jan;135(Pt 1):62-71. doi: 10.1093/brain/awr326. Epub 2011 Dec 20.

47.

Mitochondrial respiratory chain disease in children undergoing cardiac transplantation: a prospective study.

Bates MG, Nesbitt V, Kirk R, He L, Blakely EL, Alston CL, Brodlie M, Hasan A, Taylor RW, McFarland R.

Int J Cardiol. 2012 Mar 8;155(2):305-6. doi: 10.1016/j.ijcard.2011.11.063. Epub 2011 Dec 20. No abstract available.

PMID:
22188990
48.

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.

Craig K, Young MJ, Blakely EL, Longley MJ, Turnbull DM, Copeland WC, Taylor RW.

Mitochondrion. 2012 Mar;12(2):313-9. doi: 10.1016/j.mito.2011.11.006. Epub 2011 Dec 4.

49.

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

Horvath R, Czermin B, Gulati S, Demuth S, Houge G, Pyle A, Dineiger C, Blakely EL, Hassani A, Foley C, Brodhun M, Storm K, Kirschner J, Gorman GS, Lochmüller H, Holinski-Feder E, Taylor RW, Chinnery PF.

J Neurol Neurosurg Psychiatry. 2012 Feb;83(2):174-8. doi: 10.1136/jnnp-2011-301258. Epub 2011 Oct 29.

PMID:
22036850
50.

Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0.

Zamzami MA, Price GR, Taylor RW, Blakely EL, Oancea I, Bowling F, Duley JA.

BMC Res Notes. 2011 Oct 20;4:426. doi: 10.1186/1756-0500-4-426.

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