Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 83

1.

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.

Zhang J, Lachance V, Schaffner A, Li X, Fedick A, Kaye LE, Liao J, Rosenfeld J, Yachelevich N, Chu ML, Mitchell WG, Boles RG, Moran E, Tokita M, Gorman E, Bagley K, Zhang W, Xia F, Leduc M, Yang Y, Eng C, Wong LJ, Schiffmann R, Diaz GA, Kornreich R, Thummel R, Wasserstein M, Yue Z, Edelmann L.

PLoS Genet. 2016 Apr 27;12(4):e1005848. doi: 10.1371/journal.pgen.1005848. eCollection 2016 Apr.

2.

Hurt, tired and queasy: Specific variants in the ATPase domain of the TRAP1 mitochondrial chaperone are associated with common, chronic "functional" symptomatology including pain, fatigue and gastrointestinal dysmotility.

Boles RG, Hornung HA, Moody AE, Ortiz TB, Wong SA, Eggington JM, Stanley CM, Gao M, Zhou H, McLaughlin S, Zare AS, Sheldon KM, Skolnick J, McKernan KJ.

Mitochondrion. 2015 Jul;23:64-70. doi: 10.1016/j.mito.2015.05.002. Epub 2015 May 27.

3.

Increased prevalence of two mitochondrial DNA polymorphisms in functional disease: Are we describing different parts of an energy-depleted elephant?

Boles RG, Zaki EA, Kerr JR, Das K, Biswas S, Gardner A.

Mitochondrion. 2015 Jul;23:1-6. doi: 10.1016/j.mito.2015.04.005. Epub 2015 Apr 29.

PMID:
25934187
4.

NextGen nuclear DNA sequencing in cyclic vomiting syndrome reveals a significant association with the stress-induced calcium channel (RYR2).

Lee J, Wong SA, Li BU, Boles RG.

Neurogastroenterol Motil. 2015 Jul;27(7):990-6. doi: 10.1111/nmo.12575. Epub 2015 Apr 29.

5.

Hepatoblastoma in a patient with methylmalonic aciduria.

Chan R, Mascarenhas L, Boles RG, Kerkar N, Genyk Y, Venkatramani R.

Am J Med Genet A. 2015 Mar;167A(3):635-8. doi: 10.1002/ajmg.a.36925.

PMID:
25691417
6.

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.

Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen AP, Diroma MA, Navarro-Gomez D, Yeske P, Bai R, Boles RG, Brilhante V, Ralph D, DaRe JT, Shelton R, Terry SF, Zhang Z, Copeland WC, van Oven M, Prokisch H, Wallace DC, Attimonelli M, Krotoski D, Zuchner S, Gai X; MSeqDR Consortium Participants.; MSeqDR Consortium participants: Sherri Bale, Jirair Bedoyan, Doron Behar, Penelope Bonnen, Lisa Brooks, Claudia Calabrese, Sarah Calvo, Patrick Chinnery, John Christodoulou, Deanna Church,.; Rosanna Clima, Bruce H. Cohen, Richard G. Cotton, IFM de Coo, Olga Derbenevoa, Johan T. den Dunnen, David Dimmock, Gregory Enns, Giuseppe Gasparre,.; Amy Goldstein, Iris Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard H. Haas, Hakon Hakonarson, Michio Hirano, Douglas Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth McCormick, Grant Mitchell, Vamsi K. Mootha, Yasushi Okazaki,.; Aurora Pujol, Melissa Parisi, Juan Carlos Perin, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, Honey Reddi, Heidi Rehm, Erin Riggs, Richard Rodenburg, Yaffa Rubinstein, Russell Saneto, Mariangela Santorsola, Curt Scharfe,.; Claire Sheldon, Eric A. Shoubridge, Domenico Simone, Bert Smeets, Jan A. Smeitink, Christine Stanley, Anu Suomalainen, Mark Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne Wolfe, and Lee-Jun Wong..

Mol Genet Metab. 2015 Mar;114(3):388-96. doi: 10.1016/j.ymgme.2014.11.016. Epub 2014 Dec 4. Review.

7.

Quantitative pedigree analysis and mitochondrial DNA sequence variants in adults with cyclic vomiting syndrome.

Venkatesan T, Zaki EA, Kumar N, Sengupta J, Ali M, Malik B, Szabo A, van Tilburg MA, Boles RG.

BMC Gastroenterol. 2014 Oct 21;14:181. doi: 10.1186/1471-230X-14-181.

8.

Homozygous TRAP1 sequence variant in a child with Leigh syndrome and normal kidneys.

Skinner SJ, Doonanco KR, Boles RG, Chan AK.

Kidney Int. 2014 Oct;86(4):860. doi: 10.1038/ki.2014.208. No abstract available.

PMID:
25265962
9.

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.

Schwartzentruber J, Buhas D, Majewski J, Sasarman F, Papillon-Cavanagh S, Thiffault I, Sheldon KM, Massicotte C, Patry L, Simon M, Zare AS, McKernan KJ; FORGE Canada Consortium., Michaud J, Boles RG, Deal CL, Desilets V, Shoubridge EA, Samuels ME.

Hum Mutat. 2014 Nov;35(11):1285-9. doi: 10.1002/humu.22629. Epub 2014 Oct 18. Erratum in: Hum Mutat. 2015 Feb;36(2):281. Thiffaut, Isabelle [corrected to Thiffault, Isabelle].

PMID:
25130867
10.
11.

Expanded genetic codes in next generation sequencing enable decontamination and mitochondrial enrichment.

McKernan KJ, Spangler J, Zhang L, Tadigotla V, McLaughlin S, Warner J, Zare A, Boles RG.

PLoS One. 2014 May 2;9(5):e96492. doi: 10.1371/journal.pone.0096492. eCollection 2014.

12.

Irritable bowel syndrome may be associated with maternal inheritance and mitochondrial DNA control region sequence variants.

van Tilburg MA, Zaki EA, Venkatesan T, Boles RG.

Dig Dis Sci. 2014 Jul;59(7):1392-7. doi: 10.1007/s10620-014-3045-2. Epub 2014 Feb 6.

13.

Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.

Tarnopolsky M, Meaney B, Robinson B, Sheldon K, Boles RG.

Am J Med Genet A. 2013 Aug;161A(8):2020-3. doi: 10.1002/ajmg.a.36000. Epub 2013 Jun 27.

PMID:
23813926
15.

New evidence for the involvement of mitochondrial inheritance in schizophrenia: results from a cross-sectional study evaluating the risk of illness in relatives of schizophrenia patients.

Verge B, Alonso Y, Miralles C, Valero J, Vilella E, Boles RG, Martorell L.

J Clin Psychiatry. 2012 May;73(5):684-90. doi: 10.4088/JCP.10m06718. Epub 2012 Mar 20.

PMID:
22480934
16.

Comment on treatment of psychiatric illness in patients with mitochondrial disease.

Gardner A, Boles RG.

Psychosomatics. 2011 Sep-Oct;52(5):497-8. doi: 10.1016/j.psym.2011.01.025. No abstract available.

PMID:
21907079
18.

Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder.

Randolph LM, Jackson HA, Wang J, Shimada H, Sanchez-Lara PA, Wong DA, Wong LJ, Boles RG.

Mol Genet Metab. 2011 Feb;102(2):149-52. doi: 10.1016/j.ymgme.2010.10.014. Epub 2010 Oct 30.

PMID:
21093335
19.

Beyond the serotonin hypothesis: mitochondria, inflammation and neurodegeneration in major depression and affective spectrum disorders.

Gardner A, Boles RG.

Prog Neuropsychopharmacol Biol Psychiatry. 2011 Apr 29;35(3):730-43. doi: 10.1016/j.pnpbp.2010.07.030. Epub 2010 Aug 5. Review.

PMID:
20691744
20.

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.

Li FY, El-Hattab AW, Bawle EV, Boles RG, Schmitt ES, Scaglia F, Wong LJ.

Hum Mutat. 2010 Aug;31(8):E1632-51. doi: 10.1002/humu.21311.

PMID:
20574985

Supplemental Content

Loading ...
Support Center