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Items: 1 to 20 of 606

1.

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.

PMID:
27164671
2.

How different are baby-led weaning and conventional complementary feeding? A cross-sectional study of infants aged 6-8 months.

Morison BJ, Taylor RW, Haszard JJ, Schramm CJ, Williams Erickson L, Fangupo LJ, Fleming EA, Luciano A, Heath AL.

BMJ Open. 2016 May 6;6(5):e010665. doi: 10.1136/bmjopen-2015-010665.

3.

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Metodiev MD, Thompson K, Alston CL, Morris AA, He L, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rötig A, Taylor RW.

Am J Hum Genet. 2016 May 5;98(5):993-1000. doi: 10.1016/j.ajhg.2016.03.010. Epub 2016 Apr 28.

4.

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 Apr 30. pii: gkw382. [Epub ahead of print]

5.

Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3.

Mathieu L, Costa AL, Le Bachelier C, Slama A, Lebre AS, Taylor RW, Bastin J, Djouadi F.

Free Radic Biol Med. 2016 Apr 25;96:190-198. doi: 10.1016/j.freeradbiomed.2016.04.027. [Epub ahead of print]

PMID:
27126960
6.

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood.

Lewis-Smith D, Kamer KJ, Griffin H, Childs AM, Pysden K, Titov D, Duff J, Pyle A, Taylor RW, Yu-Wai-Man P, Ramesh V, Horvath R, Mootha VK, Chinnery PF.

Neurol Genet. 2016 Mar 3;2(2):e59. doi: 10.1212/NXG.0000000000000059. eCollection 2016 Apr.

7.

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 Apr 25. doi: 10.1001/jamaneurol.2016.0355. [Epub ahead of print]

PMID:
27111573
8.

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.

Alston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O'Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW.

J Med Genet. 2016 Apr 18. pii: jmedgenet-2015-103576. doi: 10.1136/jmedgenet-2015-103576. [Epub ahead of print]

9.

Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

Kullar PJ, Quail J, Lindsey P, Wilson JA, Horvath R, Yu-Wai-Man P, Gorman GS, Taylor RW, Ng Y, McFarland R, Moore BC, Chinnery PF.

Brain. 2016 Mar 25. pii: aww051. [Epub ahead of print] No abstract available.

10.

Gut Motility Issues in Critical Illness.

Taylor RW.

Crit Care Clin. 2016 Apr;32(2):191-201. doi: 10.1016/j.ccc.2015.11.003. Epub 2016 Feb 18. Review.

PMID:
27016161
11.

Monitoring Early-Stage Nanoparticle Assembly in Microdroplets by Optical Spectroscopy and SERS.

Salmon AR, Esteban R, Taylor RW, Hugall JT, Smith CA, Whyte G, Scherman OA, Aizpurua J, Abell C, Baumberg JJ.

Small. 2016 Apr;12(13):1788-96. doi: 10.1002/smll.201503513. Epub 2016 Feb 10.

PMID:
26865562
12.

Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure.

Pisano A, Cerbelli B, Perli E, Pelullo M, Bargelli V, Preziuso C, Mancini M, He L, Bates MG, Lucena JR, Della Monica PL, Familiari G, Petrozza V, Nediani C, Taylor RW, d'Amati G, Giordano C.

Cardiovasc Pathol. 2016 Mar-Apr;25(2):103-12. doi: 10.1016/j.carpath.2015.09.009. Epub 2015 Sep 30.

13.

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.

Dalla Rosa I, Cámara Y, Durigon R, Moss CF, Vidoni S, Akman G, Hunt L, Johnson MA, Grocott S, Wang L, Thorburn DR, Hirano M, Poulton J, Taylor RW, Elgar G, Martí R, Voshol P, Holt IJ, Spinazzola A.

PLoS Genet. 2016 Jan 13;12(1):e1005779. doi: 10.1371/journal.pgen.1005779. eCollection 2016 Jan.

14.

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.

Wilson IJ, Carling PJ, Alston CL, Floros VI, Pyle A, Hudson G, Sallevelt SC, Lamperti C, Carelli V, Bindoff LA, Samuels DC, Wonnapinij P, Zeviani M, Taylor RW, Smeets HJ, Horvath R, Chinnery PF.

Hum Mol Genet. 2016 Mar 1;25(5):1031-41. doi: 10.1093/hmg/ddv626. Epub 2016 Jan 5.

15.

Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations.

Perli E, Fiorillo A, Giordano C, Pisano A, Montanari A, Grazioli P, Campese AF, Di Micco P, Tuppen HA, Genovese I, Poser E, Preziuso C, Taylor RW, Morea V, Colotti G, d'Amati G.

Hum Mol Genet. 2016 Mar 1;25(5):903-15. doi: 10.1093/hmg/ddv619. Epub 2015 Dec 31.

16.

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.

Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Del Toro M, Arranz JA, Riudor E, Garcia-Cazorla A, Jou C, O'Callaghan M, Pineda M, Montero R, Arias A, García-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A, Tort F.

Mitochondrion. 2016 Jan;26:72-80. doi: 10.1016/j.mito.2015.12.004. Epub 2015 Dec 11.

PMID:
26688339
17.

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.

18.

Baby-Led Introduction to SolidS (BLISS) study: a randomised controlled trial of a baby-led approach to complementary feeding.

Daniels L, Heath AL, Williams SM, Cameron SL, Fleming EA, Taylor BJ, Wheeler BJ, Gibson RS, Taylor RW.

BMC Pediatr. 2015 Nov 12;15:179. doi: 10.1186/s12887-015-0491-8.

19.

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

Spiegel R, Saada A, Flannery PJ, Burté F, Soiferman D, Khayat M, Eisner V, Vladovski E, Taylor RW, Bindoff LA, Shaag A, Mandel H, Schuler-Furman O, Shalev SA, Elpeleg O, Yu-Wai-Man P.

J Med Genet. 2016 Feb;53(2):127-31. doi: 10.1136/jmedgenet-2015-103361. Epub 2015 Nov 11.

20.

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.

Staufner C, Haack TB, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Lenz D, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Ozolek JA, Zschocke J, Kuster A, Dick A, Das AM, Wieland T, Terrile C, Strom TM, Meitinger T, Prokisch H, Hoffmann GF.

J Inherit Metab Dis. 2016 Jan;39(1):3-16. doi: 10.1007/s10545-015-9896-7. Epub 2015 Nov 5.

PMID:
26541327
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