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Results: 1 to 20 of 74

1.

Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report.

Lee J, Wong S, Boles RG.

Eur J Pediatr. 2014 Jul;173(7):967-9. doi: 10.1007/s00431-014-2339-x. Epub 2014 May 27.

PMID:
24863632
[PubMed - in process]
2.

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.

PMID:
24788618
[PubMed - in process]
Free PMC Article
3.

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
[PubMed - in process]
4.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

High degree of efficacy in the treatment of cyclic vomiting syndrome with combined co-enzyme Q10, L-carnitine and amitriptyline, a case series.

Boles RG.

BMC Neurol. 2011 Aug 16;11:102. doi: 10.1186/1471-2377-11-102.

PMID:
21846334
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
20109231
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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
[PubMed - indexed for MEDLINE]
16.

Are pediatric and adult-onset cyclic vomiting syndrome (CVS) biologically different conditions? Relationship of adult-onset CVS with the migraine and pediatric CVS-associated common mtDNA polymorphisms 16519T and 3010A.

Boles RG, Zaki EA, Lavenbarg T, Hejazi R, Foran P, Freeborn J, Trilokekar S, McCallum R.

Neurogastroenterol Motil. 2009 Sep;21(9):936-e72. doi: 10.1111/j.1365-2982.2009.01305.x. Epub 2009 Apr 8.

PMID:
19368653
[PubMed - indexed for MEDLINE]
17.

Two common mitochondrial DNA polymorphisms are highly associated with migraine headache and cyclic vomiting syndrome.

Zaki EA, Freilinger T, Klopstock T, Baldwin EE, Heisner KR, Adams K, Dichgans M, Wagler S, Boles RG.

Cephalalgia. 2009 Jul;29(7):719-28. doi: 10.1111/j.1468-2982.2008.01793.x. Epub 2009 Feb 10.

PMID:
19220304
[PubMed - indexed for MEDLINE]
18.

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.

Arnold GL, Van Hove J, Freedenberg D, Strauss A, Longo N, Burton B, Garganta C, Ficicioglu C, Cederbaum S, Harding C, Boles RG, Matern D, Chakraborty P, Feigenbaum A.

Mol Genet Metab. 2009 Mar;96(3):85-90. doi: 10.1016/j.ymgme.2008.09.008. Epub 2009 Jan 20.

PMID:
19157942
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders.

Camilleri M, Carlson P, Zinsmeister AR, McKinzie S, Busciglio I, Burton D, Zaki EA, Boles RG.

Am J Physiol Gastrointest Liver Physiol. 2009 Mar;296(3):G510-6. doi: 10.1152/ajpgi.90650.2008. Epub 2009 Jan 15.

PMID:
19147801
[PubMed - indexed for MEDLINE]
Free Article
20.

North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition consensus statement on the diagnosis and management of cyclic vomiting syndrome.

Li BU, Lefevre F, Chelimsky GG, Boles RG, Nelson SP, Lewis DW, Linder SL, Issenman RM, Rudolph CD; North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.

J Pediatr Gastroenterol Nutr. 2008 Sep;47(3):379-93. doi: 10.1097/MPG.0b013e318173ed39.

PMID:
18728540
[PubMed - indexed for MEDLINE]

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