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Items: 1 to 50 of 526

1.

De-fusing mitochondria defuses the mtDNA time-bomb.

Chinnery PF, Prudent J.

Cell Res. 2019 Jul 31. doi: 10.1038/s41422-019-0206-z. [Epub ahead of print] No abstract available.

PMID:
31366991
2.

Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila.

Andreazza S, Samstag CL, Sanchez-Martinez A, Fernandez-Vizarra E, Gomez-Duran A, Lee JJ, Tufi R, Hipp MJ, Schmidt EK, Nicholls TJ, Gammage PA, Chinnery PF, Minczuk M, Pallanck LJ, Kennedy SR, Whitworth AJ.

Nat Commun. 2019 Jul 23;10(1):3280. doi: 10.1038/s41467-019-10857-y.

3.

Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study.

Klopstock T, Tricta F, Neumayr L, Karin I, Zorzi G, Fradette C, Kmieć T, Büchner B, Steele HE, Horvath R, Chinnery PF, Basu A, Küpper C, Neuhofer C, Kálmán B, Dušek P, Yapici Z, Wilson I, Zhao F, Zibordi F, Nardocci N, Aguilar C, Hayflick SJ, Spino M, Blamire AM, Hogarth P, Vichinsky E.

Lancet Neurol. 2019 Jul;18(7):631-642. doi: 10.1016/S1474-4422(19)30142-5.

PMID:
31202468
4.

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.

Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R.

Ann Neurol. 2019 Aug;86(2):310-315. doi: 10.1002/ana.25525. Epub 2019 Jul 1.

PMID:
31187502
5.

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.

van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez Rodríguez E; DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank); EADB (Alzheimer Disease European DNA biobank); IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium); IPDGC (The International Parkinson Disease Genomics Consortium); RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia); Netherlands Brain Bank (NBB), Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L, Maier W, Dols-Icardo O, Kawalia A, Dalmasso MC, Boada M, Zettl UK, van Schoor NM, Beekman M, Allen M, Masliah E, de Munain AL, Pantelyat A, Wszolek ZK, Ross OA, Dickson DW, Graff-Radford NR, Knopman D, Rademakers R, Lemstra AW, Pijnenburg YAL, Scheltens P, Gasser T, Chinnery PF, Hemmer B, Huisman MA, Troncoso J, Moreno F, Nohr EA, Sørensen TIA, Heutink P, Sánchez-Juan P, Posthuma D; GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, Clarimón J, Christensen K, Ertekin-Taner N, Scholz SW, Ramirez A, Ruiz A, Slagboom E, van der Flier WM, Holstege H.

Acta Neuropathol. 2019 Aug;138(2):237-250. doi: 10.1007/s00401-019-02026-8. Epub 2019 May 27.

6.

Germline selection shapes human mitochondrial DNA diversity.

Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF.

Science. 2019 May 24;364(6442). pii: eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23.

7.

Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R.

Genet Med. 2019 Apr 26. doi: 10.1038/s41436-019-0506-1. [Epub ahead of print]

PMID:
31028354
8.

Mitochondrial Haplogroup and the Risk of Acute Kidney Injury Following Cardiac Bypass Surgery.

Kanagasundaram NS, Baudouin SV, Rowling S, Prabhu M, Dark JH, Goodship THJ, Chinnery PF, Hudson G.

Sci Rep. 2019 Feb 19;9(1):2279. doi: 10.1038/s41598-018-37944-2.

9.

A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts.

Guyatt AL, Brennan RR, Burrows K, Guthrie PAI, Ascione R, Ring SM, Gaunt TR, Pyle A, Cordell HJ, Lawlor DA, Chinnery PF, Hudson G, Rodriguez S.

Hum Genomics. 2019 Jan 31;13(1):6. doi: 10.1186/s40246-018-0190-2.

10.

Diagnosis of 'possible' mitochondrial disease: an existential crisis.

Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, Christodoulou J, Cohen BH, Davis RL, Falk MJ, Fratter C, Horvath R, Koenig MK, Mancuso M, McCormack S, McCormick EM, McFarland R, Nesbitt V, Schiff M, Steele H, Stockler S, Sue C, Tarnopolsky M, Thorburn DR, Vockley J, Rahman S.

J Med Genet. 2019 Mar;56(3):123-130. doi: 10.1136/jmedgenet-2018-105800. Epub 2019 Jan 25.

PMID:
30683676
11.

Mitochondrial neurogastrointestinal encephalopathy: a clinicopathological mimic of Crohn's disease.

Patel R, Coulter LL, Rimmer J, Parkes M, Chinnery PF, Swift O.

BMC Gastroenterol. 2019 Jan 15;19(1):11. doi: 10.1186/s12876-018-0925-5.

12.

Oldies but Goldies mtDNA Population Variants and Neurodegenerative Diseases.

Chinnery PF, Gomez-Duran A.

Front Neurosci. 2018 Oct 12;12:682. doi: 10.3389/fnins.2018.00682. eCollection 2018. Review.

13.

High prevalence of focal and multi-focal somatic genetic variants in the human brain.

Keogh MJ, Wei W, Aryaman J, Walker L, van den Ameele J, Coxhead J, Wilson I, Bashton M, Beck J, West J, Chen R, Haudenschild C, Bartha G, Luo S, Morris CM, Jones NS, Attems J, Chinnery PF.

Nat Commun. 2018 Oct 15;9(1):4257. doi: 10.1038/s41467-018-06331-w.

14.

Exposure of Monocytic Cells to Lipopolysaccharide Induces Coordinated Endotoxin Tolerance, Mitochondrial Biogenesis, Mitophagy, and Antioxidant Defenses.

Widdrington JD, Gomez-Duran A, Pyle A, Ruchaud-Sparagano MH, Scott J, Baudouin SV, Rostron AJ, Lovat PE, Chinnery PF, Simpson AJ.

Front Immunol. 2018 Sep 27;9:2217. doi: 10.3389/fimmu.2018.02217. eCollection 2018.

15.

Frequency and signature of somatic variants in 1461 human brain exomes.

Wei W, Keogh MJ, Aryaman J, Golder Z, Kullar PJ, Wilson I, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Sarraj SA, Morris CM, Ansorge O, Jones NS, Ironside JW, Chinnery PF.

Genet Med. 2019 Apr;21(4):904-912. doi: 10.1038/s41436-018-0274-3. Epub 2018 Sep 14.

16.

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

Nicolas G, Acuña-Hidalgo R, Keogh MJ, Quenez O, Steehouwer M, Lelieveld S, Rousseau S, Richard AC, Oud MS, Marguet F, Laquerrière A, Morris CM, Attems J, Smith C, Ansorge O, Al Sarraj S, Frebourg T, Campion D, Hannequin D, Wallon D, Gilissen C, Chinnery PF, Veltman JA, Hoischen A.

Alzheimers Dement. 2018 Dec;14(12):1632-1639. doi: 10.1016/j.jalz.2018.06.3056. Epub 2018 Aug 13.

17.

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution.

Santibanez-Koref M, Griffin H, Turnbull DM, Chinnery PF, Herbert M, Hudson G.

Mitochondrion. 2019 May;46:302-306. doi: 10.1016/j.mito.2018.08.003. Epub 2018 Aug 9.

18.

Oxygen in mitochondrial disease: can there be too much of a good thing?

Mootha VK, Chinnery PF.

J Inherit Metab Dis. 2018 Sep;41(5):761-763. doi: 10.1007/s10545-018-0210-3. Epub 2018 Jun 8. No abstract available.

PMID:
29948481
19.

The mitochondrial DNA genetic bottleneck: inheritance and beyond.

Zhang H, Burr SP, Chinnery PF.

Essays Biochem. 2018 Jul 20;62(3):225-234. doi: 10.1042/EBC20170096. Print 2018 Jul 20. Review.

PMID:
29880721
20.

Mutation-specific effects in germline transmission of pathogenic mtDNA variants.

Otten ABC, Sallevelt SCEH, Carling PJ, Dreesen JCFM, Drüsedau M, Spierts S, Paulussen ADC, de Die-Smulders CEM, Herbert M, Chinnery PF, Samuels DC, Lindsey P, Smeets HJM.

Hum Reprod. 2018 Jul 1;33(7):1331-1341. doi: 10.1093/humrep/dey114.

21.

First-line genomic diagnosis of mitochondrial disorders.

Raymond FL, Horvath R, Chinnery PF.

Nat Rev Genet. 2018 Jul;19(7):399-400. doi: 10.1038/s41576-018-0022-1. No abstract available.

PMID:
29789687
22.

Correction: Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.

Wei W, Gomez-Duran A, Hudson G, Chinnery PF.

PLoS Genet. 2018 May 4;14(5):e1007364. doi: 10.1371/journal.pgen.1007364. eCollection 2018 May.

23.

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

Bansagi B, Phan V, Baker MR, O'Sullivan J, Jennings MJ, Whittaker RG, Müller JS, Duff J, Griffin H, Miller JAL, Gorman GS, Lochmüller H, Chinnery PF, Roos A, Swan LE, Horvath R.

Neurology. 2018 May 22;90(21):e1842-e1848. doi: 10.1212/WNL.0000000000005566. Epub 2018 May 2.

24.

Author Correction: Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos.

Floros VI, Pyle A, Dietmann S, Wei W, Tang WWC, Irie N, Payne B, Capalbo A, Noli L, Coxhead J, Hudson G, Crosier M, Strahl H, Khalaf Y, Saitou M, Ilic D, Surani MA, Chinnery PF.

Nat Cell Biol. 2018 Aug;20(8):991. doi: 10.1038/s41556-018-0064-9.

PMID:
29674682
25.

PLP1 mutations and central demyelination: Evidence from electrophysiologic phenotyping in female manifesting carriers.

Keogh MJ, Jaiser SR, Steele HE, Horvath R, Chinnery PF, Baker MR.

Neurol Clin Pract. 2017 Oct;7(5):451-454. doi: 10.1212/CPJ.0000000000000346. No abstract available.

26.

Stem cell modeling of mitochondrial parkinsonism reveals key functions of OPA1.

Jonikas M, Madill M, Mathy A, Zekoll T, Zois CE, Wigfield S, Kurzawa-Akanbi M, Browne C, Sims D, Chinnery PF, Cowley SA, Tofaris GK.

Ann Neurol. 2018 May;83(5):915-925. doi: 10.1002/ana.25221. Epub 2018 Apr 25.

27.

Retrospective natural history of thymidine kinase 2 deficiency.

Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M.

J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30.

28.

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R.

Genet Med. 2018 Oct;20(10):1224-1235. doi: 10.1038/gim.2017.251. Epub 2018 Mar 8. Erratum in: Genet Med. 2019 Apr 26;:.

29.

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.

30.

Mitochondria and Hypoxia: Metabolic Crosstalk in Cell-Fate Decisions.

Bargiela D, Burr SP, Chinnery PF.

Trends Endocrinol Metab. 2018 Apr;29(4):249-259. doi: 10.1016/j.tem.2018.02.002. Epub 2018 Feb 28. Review.

PMID:
29501229
31.

POLG-Related Disorders.

Cohen BH, Chinnery PF, Copeland WC.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2010 Mar 16 [updated 2018 Mar 1].

32.

Mitochondrial DNA Heteroplasmy and Purifying Selection in the Mammalian Female Germ Line.

Burr SP, Pezet M, Chinnery PF.

Dev Growth Differ. 2018 Jan;60(1):21-32. doi: 10.1111/dgd.12420. Epub 2018 Jan 24. Review.

PMID:
29363102
33.

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.

Bartsakoulia M, Pyle A, Troncoso-Chandía D, Vial-Brizzi J, Paz-Fiblas MV, Duff J, Griffin H, Boczonadi V, Lochmüller H, Kleinle S, Chinnery PF, Grünert S, Kirschner J, Eisner V, Horvath R.

Hum Mol Genet. 2018 Apr 1;27(7):1186-1195. doi: 10.1093/hmg/ddy033.

34.

Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos.

Floros VI, Pyle A, Dietmann S, Wei W, Tang WCW, Irie N, Payne B, Capalbo A, Noli L, Coxhead J, Hudson G, Crosier M, Strahl H, Khalaf Y, Saitou M, Ilic D, Surani MA, Chinnery PF.

Nat Cell Biol. 2018 Feb;20(2):144-151. doi: 10.1038/s41556-017-0017-8. Epub 2018 Jan 15. Erratum in: Nat Cell Biol. 2018 Apr 19;:.

35.

Neuroferritinopathy.

Chinnery PF.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2005 Apr 25 [updated 2018 Jan 18].

36.

Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.

Keogh MJ, Wei W, Aryaman J, Wilson I, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Jones N, Ironside JW, Chinnery PF.

J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):813-816. doi: 10.1136/jnnp-2017-317234. Epub 2018 Jan 13.

37.

Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.

Nicholls TJ, Nadalutti CA, Motori E, Sommerville EW, Gorman GS, Basu S, Hoberg E, Turnbull DM, Chinnery PF, Larsson NG, Larsson E, Falkenberg M, Taylor RW, Griffith JD, Gustafsson CM.

Mol Cell. 2018 Jan 4;69(1):9-23.e6. doi: 10.1016/j.molcel.2017.11.033. Epub 2017 Dec 28.

38.

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.

39.

Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.

Wei W, Gomez-Duran A, Hudson G, Chinnery PF.

PLoS Genet. 2017 Dec 18;13(12):e1007126. doi: 10.1371/journal.pgen.1007126. eCollection 2017 Dec. Erratum in: PLoS Genet. 2018 May 4;14 (5):e1007364.

40.

Response to Newman et al.

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Josee Raboisson M, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Zolkipli Cunningham Z, Rahman S, Chinnery PF.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.164. Epub 2017 Oct 26. No abstract available.

PMID:
29215644
41.

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.

Kullar PJ, Gomez-Duran A, Gammage PA, Garone C, Minczuk M, Golder Z, Wilson J, Montoya J, Häkli S, Kärppä M, Horvath R, Majamaa K, Chinnery PF.

Brain. 2018 Jan 1;141(1):55-62. doi: 10.1093/brain/awx295.

42.

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.

Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, Pope S, Pandraud A, Horga A, Scalco RS, Li A, Ashokkumar B, Lourenço CM, Heales S, Horvath R, Chinnery PF, Toro C, Singleton AB, Jacques TS, Abramov AY, Muntoni F, Hanna MG, Reilly MM, Revesz T, Kullmann DM, Jepson JEC, Houlden H.

Brain. 2017 Nov 1;140(11):2820-2837. doi: 10.1093/brain/awx231.

43.

Monitoring clinical progression with mitochondrial disease biomarkers.

Steele HE, Horvath R, Lyon JJ, Chinnery PF.

Brain. 2017 Oct 1;140(10):2530-2540. doi: 10.1093/brain/awx168. Review.

44.

De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities.

Sommerville EW, Alston CL, Pyle A, He L, Falkous G, Naismith K, Chinnery PF, McFarland R, Taylor RW.

Neurol Genet. 2017 Sep 22;3(5):e187. doi: 10.1212/NXG.0000000000000187. eCollection 2017 Oct.

45.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.

Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H.

Am J Hum Genet. 2017 Oct 5;101(4):525-538. doi: 10.1016/j.ajhg.2017.08.015. Epub 2017 Sep 21.

46.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.107. Epub 2017 Jul 27. Review.

PMID:
28749475
47.

The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy.

Majander A, Robson AG, João C, Holder GE, Chinnery PF, Moore AT, Votruba M, Stockman A, Yu-Wai-Man P.

Mitochondrion. 2017 Sep;36:138-149. doi: 10.1016/j.mito.2017.07.006. Epub 2017 Jul 18.

48.

Mitochondria in neuroinflammation - Multiple sclerosis (MS), leber hereditary optic neuropathy (LHON) and LHON-MS.

Bargiela D, Chinnery PF.

Neurosci Lett. 2017 Jun 28. pii: S0304-3940(17)30543-8. doi: 10.1016/j.neulet.2017.06.051. [Epub ahead of print] Review.

49.

Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-γ.

Widdrington JD, Gomez-Duran A, Steyn JS, Pyle A, Ruchaud-Sparagano MH, Scott J, Baudouin SV, Rostron AJ, Simpson J, Chinnery PF.

J Allergy Clin Immunol. 2017 Nov;140(5):1461-1464.e8. doi: 10.1016/j.jaci.2017.04.048. Epub 2017 Jun 17. No abstract available.

50.

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R.

Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. Erratum in: Brain. 2017 Dec 9;:.

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