Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 79

1.

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
2.

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.

Mol Genet Metab. 2015 Mar;114(3):388-396. doi: 10.1016/j.ymgme.2014.11.016. Epub 2014 Dec 4. Review.

PMID:
25542617
3.

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.

4.

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
5.

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
6.
7.

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.

8.

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.

PMID:
24500451
9.

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
11.

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
12.

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
14.

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
15.

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
16.

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
17.

Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease.

Rosser T, Muir J, Panigrahy A, Baldwin EE, Boles RG.

J Child Neurol. 2010 Aug;25(8):1013-6. doi: 10.1177/0883073809352378. Epub 2010 May 14.

PMID:
20472869
18.

Should patients be screened for 12S rRNA mutations before treatment with aminoglycosides?

Boles RG, Friedlich P.

Mitochondrion. 2010 Jun;10(4):391-2. doi: 10.1016/j.mito.2010.03.005. Epub 2010 Mar 16. No abstract available.

PMID:
20302974
19.

Treatment of cyclic vomiting syndrome with co-enzyme Q10 and amitriptyline, a retrospective study.

Boles RG, Lovett-Barr MR, Preston A, Li BU, Adams K.

BMC Neurol. 2010 Jan 28;10:10. doi: 10.1186/1471-2377-10-10.

20.

Maternal inheritance in recurrent early-onset depression.

Bergemann ER, Boles RG.

Psychiatr Genet. 2010 Feb;20(1):31-4. doi: 10.1097/YPG.0b013e3283351153.

PMID:
20010317
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk