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Items: 1 to 50 of 85

1.

Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans.

Smith DR, Stanley CM, Foss T, Boles RG, McKernan K.

PLoS One. 2017 Nov 16;12(11):e0187926. doi: 10.1371/journal.pone.0187926. eCollection 2017.

2.

Molecular and clinical spectra of FBXL4 deficiency.

El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC.

Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Review.

PMID:
28940506
3.

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.

4.

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.

5.

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
6.

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.

PMID:
25925909
7.

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
8.

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.

9.

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.

10.

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.

11.

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
12.
13.

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.

14.

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.

15.

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
17.

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
18.

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
20.

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
21.

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
22.

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
23.

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
24.

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
25.

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.

26.

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
27.

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
28.

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
29.

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.

30.

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.

31.

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
32.

Sex ratios and mitochondrial genetics in migraine.

Boles RG, Gardner A.

Cephalalgia. 2008 Sep;28(9):1001-2; author reply 1002. doi: 10.1111/j.1468-2982.2008.01665_1.x. Epub 2008 Jul 17. No abstract available.

PMID:
18644030
33.

Cyclic vomiting syndrome in adults.

Abell TL, Adams KA, Boles RG, Bousvaros A, Chong SK, Fleisher DR, Hasler WL, Hyman PE, Issenman RM, Li BU, Linder SL, Mayer EA, McCallum RW, Olden K, Parkman HP, Rudolph CD, Taché Y, Tarbell S, Vakil N.

Neurogastroenterol Motil. 2008 Apr;20(4):269-84. doi: 10.1111/j.1365-2982.2008.01113.x. Review.

34.

Symptoms of somatization as a rapid screening tool for mitochondrial dysfunction in depression.

Gardner A, Boles RG.

Biopsychosoc Med. 2008 Feb 22;2:7. doi: 10.1186/1751-0759-2-7.

35.

Mitochondrial energy depletion in depression with somatization.

Gardner A, Boles RG.

Psychother Psychosom. 2008;77(2):127-9. doi: 10.1159/000112891. Epub 2008 Jan 25. No abstract available.

PMID:
18230947
36.

FGFR mutations and plagiocephaly.

Dhamcharee V, Boles RG.

J Craniofac Surg. 2008 Jan;19(1):290-1. doi: 10.1097/SCS.0b013e31815ca1e6.

PMID:
18216705
37.

Reflex sympathetic dystrophy: complex regional pain syndrome type I in children with mitochondrial disease and maternal inheritance.

Higashimoto T, Baldwin EE, Gold JI, Boles RG.

Arch Dis Child. 2008 May;93(5):390-7. doi: 10.1136/adc.2007.123661. Epub 2008 Jan 11.

PMID:
18192313
38.

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, Puchowicz MA, Gonzalez-Gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou PC, Wang J, Baldwin EE, Adams D, Leslie N, Boles RG, Kerr DS, Craigen WJ.

Hepatology. 2007 Oct;46(4):1218-27. Erratum in: Hepatology. 2008 Feb;47(2):768.

PMID:
17694548
39.

Combined cyclic vomiting and Kearns-Sayre syndromes.

Boles RG, Baldwin EE, Prezant TR.

Pediatr Neurol. 2007 Feb;36(2):135-6.

PMID:
17275670
40.

A patient with arginase deficiency and episodic hyperammonemia successfully treated with menses cessation.

Boles RG, Stone ML.

Mol Genet Metab. 2006 Dec;89(4):390-1. Epub 2006 Sep 11.

PMID:
16963300
41.

Cyclic vomiting syndrome plus.

Boles RG, Powers AL, Adams K.

J Child Neurol. 2006 Mar;21(3):182-8.

PMID:
16901417
42.

Glucose concentration in 254 sudden infant death syndrome livers suggests pathophysiological heterogeneity.

Boles RG, Rinaldo P.

Pediatr Dev Pathol. 2006 Jan-Feb;9(1):86-7. No abstract available.

PMID:
16817255
43.

Individual human hair mitochondrial DNA control region heteroplasmy proportions in mothers and children.

Wang Q, Boles RG.

Mitochondrion. 2006 Feb;6(1):37-42. Epub 2006 Jan 10.

PMID:
16412703
44.

Screening for mitochondrial DNA heteroplasmy in children at risk for mitochondrial disease.

Ito M, Tran Le S, Chaudhari D, Higashimoto T, Maslim A, Boles RG.

Mitochondrion. 2001 Oct;1(3):269-78.

PMID:
16120283
45.

Mitochondrial inheritance in depression, dysmotility and migraine?

Burnett BB, Gardner A, Boles RG.

J Affect Disord. 2005 Sep;88(1):109-16.

PMID:
16019080
46.

A high predisposition to depression and anxiety in mothers and other matrilineal relatives of children with presumed maternally inherited mitochondrial disorders.

Boles RG, Burnett BB, Gleditsch K, Wong S, Guedalia A, Kaariainen A, Eloed J, Stern A, Brumm V.

Am J Med Genet B Neuropsychiatr Genet. 2005 Aug 5;137B(1):20-4.

PMID:
15965966
47.

Mitochondrial DNA analysis in clinical laboratory diagnostics.

Wong LJ, Boles RG.

Clin Chim Acta. 2005 Apr;354(1-2):1-20. Epub 2005 Jan 27. Review.

PMID:
15748595
48.

Maternal inheritance in cyclic vomiting syndrome.

Boles RG, Adams K, Li BU.

Am J Med Genet A. 2005 Feb 15;133A(1):71-7.

PMID:
15643622
49.

Mitochondrial DNA control region sequence variation in migraine headache and cyclic vomiting syndrome.

Wang Q, Ito M, Adams K, Li BU, Klopstock T, Maslim A, Higashimoto T, Herzog J, Boles RG.

Am J Med Genet A. 2004 Nov 15;131(1):50-8.

PMID:
15368478
50.

Ocular findings in geleophysic dysplasia.

Zhang X, Boles RG, Law SK, Lin M.

J AAPOS. 2004 Apr;8(2):198-200. Review. No abstract available.

PMID:
15088061

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