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Items: 1 to 50 of 395

1.

A case-comparison study of pregnant women with mitochondrial disease - what to expect?

Feeney CL, Lim A, Fagan E, Blain A, Bright A, Maddison J, Devine H, Stewart J, Taylor RW, Gorman GS, Turnbull DM, Nesbitt V, McFarland R.

BJOG. 2019 Feb 24. doi: 10.1111/1471-0528.15667. [Epub ahead of print]

PMID:
30801962
2.

Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions.

Persson Ö, Muthukumar Y, Basu S, Jenninger L, Uhler JP, Berglund AK, McFarland R, Taylor RW, Gustafsson CM, Larsson E, Falkenberg M.

Nat Commun. 2019 Feb 15;10(1):759. doi: 10.1038/s41467-019-08673-5.

3.

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
4.

Quality of Clinician-Reported Cancer History When Ordering Genetic Testing.

LaDuca H, McFarland R, Gutierrez S, Yussuf A, Ho N, Pepper J, Reineke P, Cain T, Blanco K, Horton C, Dolinsky JS.

JCO Clin Cancer Inform. 2018 Dec;2:1-11. doi: 10.1200/CCI.18.00014.

5.

Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.

Pacheu-Grau D, Callegari S, Emperador S, Thompson K, Aich A, Topol SE, Spencer EG, McFarland R, Ruiz-Pesini E, Torkamani A, Taylor RW, Montoya J, Rehling P.

Hum Mol Genet. 2018 Dec 1;27(23):4135-4144. doi: 10.1093/hmg/ddy305.

6.

Height as a clinical biomarker of disease burden in adult mitochondrial disease.

Boal RL, Ng YS, Pickett S, Schaefer AM, Feeney C, Bright A, Taylor RW, Turnbull DM, Gorman GS, Cheetham T, McFarland R.

J Clin Endocrinol Metab. 2018 Nov 13. doi: 10.1210/jc.2018-00957. [Epub ahead of print]

PMID:
30423112
7.

Surveillance for variant CJD: should more children with neurodegenerative diseases have autopsies?

Verity C, Winstone AM, Will R, Powell A, Baxter P, de Sousa C, Gissen P, Kurian M, Livingston J, McFarland R, Pal S, Pike M, Robinson R, Wassmer E, Zuberi S.

Arch Dis Child. 2018 Oct 18. pii: archdischild-2018-315458. doi: 10.1136/archdischild-2018-315458. [Epub ahead of print]

8.

Mitochondrial donation: from test tube to clinic.

Gorman GS, McFarland R, Stewart J, Feeney C, Turnbull DM.

Lancet. 2018 Oct 6;392(10154):1191-1192. doi: 10.1016/S0140-6736(18)31868-3. No abstract available.

PMID:
30319102
9.

Proceedings of the signature series symposium "cellular therapies for orthopaedics and musculoskeletal disease proven and unproven therapies-promise, facts and fantasy," international society for cellular therapies, montreal, canada, may 2, 2018.

Piuzzi NS, Dominici M, Long M, Pascual-Garrido C, Rodeo S, Huard J, Guicheux J, McFarland R, Goodrich LR, Maddens S, Robey PG, Bauer TW, Barrett J, Barry F, Karli D, Chu CR, Weiss DJ, Martin I, Jorgensen C, Muschler GF.

Cytotherapy. 2018 Nov;20(11):1381-1400. doi: 10.1016/j.jcyt.2018.09.001. Epub 2018 Oct 10.

PMID:
30316562
10.

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.

Sommerville EW, Zhou XL, Oláhová M, Jenkins J, Euro L, Konovalova S, Hilander T, Pyle A, He L, Habeebu S, Saunders C, Kelsey A, Morris AAM, McFarland R, Suomalainen A, Gorman GS, Wang ED, Thiffault I, Tyynismaa H, Taylor RW.

Hum Mol Genet. 2019 Jan 15;28(2):258-268. doi: 10.1093/hmg/ddy294.

11.

Assessment of Male Reproductive Skew via Highly Polymorphic STR Markers in Wild Vervet Monkeys, Chlorocebus pygerythrus.

Minkner MMI, Young C, Amici F, McFarland R, Barrett L, Grobler JP, Henzi SP, Widdig A.

J Hered. 2018 Oct 31;109(7):780-790. doi: 10.1093/jhered/esy048.

PMID:
30272235
12.

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.

Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjørnstad A, Henneke L, Gärtner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW.

Am J Hum Genet. 2018 Oct 4;103(4):592-601. doi: 10.1016/j.ajhg.2018.08.013. Epub 2018 Sep 20.

13.

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.

Thompson K, Mai N, Oláhová M, Scialó F, Formosa LE, Stroud DA, Garrett M, Lax NZ, Robertson FM, Jou C, Nascimento A, Ortez C, Jimenez-Mallebrera C, Hardy SA, He L, Brown GK, Marttinen P, McFarland R, Sanz A, Battersby BJ, Bonnen PE, Ryan MT, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW.

EMBO Mol Med. 2018 Nov;10(11). pii: e9060. doi: 10.15252/emmm.201809060.

14.

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

Lu HM, Li S, Black MH, Lee S, Hoiness R, Wu S, Mu W, Huether R, Chen J, Sridhar S, Tian Y, McFarland R, Dolinsky J, Tippin Davis B, Mexal S, Dunlop C, Elliott A.

JAMA Oncol. 2018 Aug 16. doi: 10.1001/jamaoncol.2018.2956. [Epub ahead of print]

PMID:
30128536
15.

Chronic Toxoplasma gondii Infection Induces Anti-N-Methyl-d-Aspartate Receptor Autoantibodies and Associated Behavioral Changes and Neuropathology.

Li Y, Viscidi RP, Kannan G, McFarland R, Pletnikov MV, Severance EG, Yolken RH, Xiao J.

Infect Immun. 2018 Sep 21;86(10). pii: e00398-18. doi: 10.1128/IAI.00398-18. Print 2018 Oct.

PMID:
30037790
16.

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop.

Koene S, van Bon L, Bertini E, Jimenez-Moreno C, van der Giessen L, de Groot I, McFarland R, Parikh S, Rahman S, Wood M, Zeman J, Janssen A, Smeitink J.

J Inherit Metab Dis. 2018 Nov;41(6):1267-1273. doi: 10.1007/s10545-018-0229-5. Epub 2018 Jul 19.

17.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S.

Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8.

18.

Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study.

Hayhurst H, Anagnostou ME, Bogle HJ, Grady JP, Taylor RW, Bindoff LA, McFarland R, Turnbull DM, Lax NZ.

Brain Pathol. 2019 Jan;29(1):97-113. doi: 10.1111/bpa.12640. Epub 2018 Oct 9.

PMID:
30021052
19.

Intraamniotic Zika virus inoculation of pregnant rhesus macaques produces fetal neurologic disease.

Coffey LL, Keesler RI, Pesavento PA, Woolard K, Singapuri A, Watanabe J, Cruzen C, Christe KL, Usachenko J, Yee J, Heng VA, Bliss-Moreau E, Reader JR, von Morgenland W, Gibbons AM, Jackson K, Ardeshir A, Heimsath H, Permar S, Senthamaraikannan P, Presicce P, Kallapur SG, Linnen JM, Gao K, Orr R, MacGill T, McClure M, McFarland R, Morrison JH, Van Rompay KKA.

Nat Commun. 2018 Jun 20;9(1):2414. doi: 10.1038/s41467-018-04777-6.

20.

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 Jun;10(6). pii: e8262. doi: 10.15252/emmm.201708262.

21.

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.

22.

An APOO Pseudogene on Chromosome 5q Is Associated With Low-Density Lipoprotein Cholesterol Levels.

Montasser ME, O'Hare EA, Wang X, Howard AD, McFarland R, Perry JA, Ryan KA, Rice K, Jaquish CE, Shuldiner AR, Miller M, Mitchell BD, Zaghloul NA, Chang YC.

Circulation. 2018 Sep 25;138(13):1343-1355. doi: 10.1161/CIRCULATIONAHA.118.034016.

PMID:
29593015
23.

The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.

Ng YS, van Ruiten H, Lai HM, Scott R, Ramesh V, Horridge K, Taylor RW, Turnbull DM, Gorman GS, McFarland R, Baker MR.

Epilepsia Open. 2018 Jan 11;3(1):103-108. doi: 10.1002/epi4.12094. eCollection 2018 Mar.

24.

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.

Pickett SJ, Grady JP, Ng YS, Gorman GS, Schaefer AM, Wilson IJ, Cordell HJ, Turnbull DM, Taylor RW, McFarland R.

Ann Clin Transl Neurol. 2018 Feb 7;5(3):333-345. doi: 10.1002/acn3.532. eCollection 2018 Mar.

25.

AAH2 gene is not required for dopamine-dependent neurochemical and behavioral abnormalities produced by Toxoplasma infection in mouse.

McFarland R, Wang ZT, Jouroukhin Y, Li Y, Mychko O, Coppens I, Xiao J, Jones-Brando L, Yolken RH, Sibley LD, Pletnikov MV.

Behav Brain Res. 2018 Jul 16;347:193-200. doi: 10.1016/j.bbr.2018.03.023. Epub 2018 Mar 16.

PMID:
29555339
26.

Scientific and Ethical Issues in Mitochondrial Donation.

Craven L, Murphy J, Turnbull DM, Taylor RW, Gorman GS, McFarland R.

New Bioeth. 2018 Apr;24(1):57-73. doi: 10.1080/20502877.2018.1440725.

27.

Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing.

Rana HQ, Gelman R, LaDuca H, McFarland R, Dalton E, Thompson J, Speare V, Dolinsky JS, Chao EC, Garber JE.

J Natl Cancer Inst. 2018 Aug 1;110(8):863-870. doi: 10.1093/jnci/djy001.

PMID:
29529297
28.

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.

29.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM; Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT.

Am J Hum Genet. 2018 Mar 1;102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020. Epub 2018 Feb 22.

30.

The genotypic and phenotypic spectrum of MTO1 deficiency.

O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM.

Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15.

31.

Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.

Bruni F, Di Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D.

Hum Mutat. 2018 Apr;39(4):563-578. doi: 10.1002/humu.23398. Epub 2018 Feb 7.

32.

Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.

Alaimo JT, Besse A, Alston CL, Pang K, Appadurai V, Samanta M, Smpokou P, McFarland R, Taylor RW, Bonnen PE.

Hum Mutat. 2018 Apr;39(4):537-549. doi: 10.1002/humu.23396. Epub 2018 Jan 22.

33.

Comparison of Computer-Guided Versus Standard Insulin Infusion Regimens in Patients With Diabetic Ketoacidosis.

Ullal J, Aloi JA, Reyes-Umpierrez D, Pasquel FJ, McFarland R, Rabinovich M, Umpierrez GE.

J Diabetes Sci Technol. 2018 Jan;12(1):39-46. doi: 10.1177/1932296817750899.

34.

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.

35.

Risk of Hypoglycemia During Insulin Infusion Directed by Paper Protocol Versus Electronic Glycemic Management System in Critically Ill Patients at a Large Academic Medical Center.

Rabinovich M, Grahl J, Durr E, Gayed R, Chester K, McFarland R, McLean B.

J Diabetes Sci Technol. 2018 Jan;12(1):47-52. doi: 10.1177/1932296817747617. Epub 2017 Dec 17.

36.

Safely Converting an Entire Academic Medical Center From Sliding Scale to Basal Bolus Insulin via Implementation of the eGlycemic Management System.

Newsom R, Patty C, Camarena E, Sawyer R, McFarland R, Gray T, Mabrey M.

J Diabetes Sci Technol. 2018 Jan;12(1):53-59. doi: 10.1177/1932296817747619. Epub 2017 Dec 13.

37.

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.

Ahmed ST, Alston CL, Hopton S, He L, Hargreaves IP, Falkous G, Oláhová M, McFarland R, Turnbull DM, Rocha MC, Taylor RW.

Sci Rep. 2017 Nov 15;7(1):15676. doi: 10.1038/s41598-017-14623-2.

38.

The influence of phylogeny, social style, and sociodemographic factors on macaque social network structure.

Balasubramaniam KN, Beisner BA, Berman CM, De Marco A, Duboscq J, Koirala S, Majolo B, MacIntosh AJ, McFarland R, Molesti S, Ogawa H, Petit O, Schino G, Sosa S, Sueur C, Thierry B, de Waal FBM, McCowan B.

Am J Primatol. 2018 Jan;80(1). doi: 10.1002/ajp.22727. Epub 2017 Nov 15.

PMID:
29140552
39.

Telepharmacy for remote hospital inpatients in north-west Queensland.

McFarland R.

J Telemed Telecare. 2017 Dec;23(10):861-865. doi: 10.1177/1357633X17732367.

PMID:
29081271
40.

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.

Glasgow RIC, Thompson K, Barbosa IA, He L, Alston CL, Deshpande C, Simpson MA, Morris AAM, Neu A, Löbel U, Hall J, Prokisch H, Haack TB, Hempel M, McFarland R, Taylor RW.

Neurogenetics. 2017 Dec;18(4):227-235. doi: 10.1007/s10048-017-0526-4. Epub 2017 Oct 26.

41.

International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy.

Mancuso M, McFarland R, Klopstock T, Hirano M; consortium on Trial Readiness in Mitochondrial Myopathies.

Neuromuscul Disord. 2017 Dec;27(12):1126-1137. doi: 10.1016/j.nmd.2017.08.006. Epub 2017 Sep 8. No abstract available.

42.

Use of Immunolabeling to Analyze Stable, Dynamic, and Nascent Microtubules in the Zebrafish Embryo.

McFarland RJ, Brown SP, Vital E, Werner JM, Brewster RM.

J Vis Exp. 2017 Sep 20;(127). doi: 10.3791/55792.

43.

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.

44.

Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease.

Hikmat O, Tzoulis C, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, McFarland R, Rahman S, Bindoff LA.

J Inherit Metab Dis. 2018 Jan;41(1):153. doi: 10.1007/s10545-017-0092-9. No abstract available.

PMID:
28952135
45.

The presence of anaemia negatively influences survival in patients with POLG disease.

Hikmat O, Tzoulis C, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, McFarland R, Rahman S, Bindoff LA.

J Inherit Metab Dis. 2017 Nov;40(6):861-866. doi: 10.1007/s10545-017-0084-9. Epub 2017 Sep 1. Erratum in: J Inherit Metab Dis. 2017 Sep 26;:.

PMID:
28865037
46.

Faecal glucocorticoid metabolite monitoring as a measure of physiological stress in captive and wild vervet monkeys.

Young C, Ganswindt A, McFarland R, de Villiers C, van Heerden J, Ganswindt S, Barrett L, Henzi SP.

Gen Comp Endocrinol. 2017 Nov 1;253:53-59. doi: 10.1016/j.ygcen.2017.08.025. Epub 2017 Aug 23.

PMID:
28843615
47.

Decreased male reproductive success in association with mitochondrial dysfunction.

Martikainen MH, Grady JP, Ng YS, Alston CL, Gorman GS, Taylor RW, McFarland R, Turnbull DM.

Eur J Hum Genet. 2017 Oct;25(10):1162-1164. doi: 10.1038/ejhg.2017.114. Epub 2017 Aug 16.

48.

Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.

Espenschied CR, LaDuca H, Li S, McFarland R, Gau CL, Hampel H.

J Clin Oncol. 2017 Aug 1;35(22):2568-2575. doi: 10.1200/JCO.2016.71.9260. Epub 2017 May 17.

PMID:
28514183
49.

Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.

Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, Hallberg E, Moore R, Thomas A, Lilyquist J, Feng B, McFarland R, Pesaran T, Huether R, LaDuca H, Chao EC, Goldgar DE, Dolinsky JS.

JAMA Oncol. 2017 Sep 1;3(9):1190-1196. doi: 10.1001/jamaoncol.2017.0424.

50.

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.

JAMA Neurol. 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357.

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