RichardGregoryBolesMD

PubMed

• 14 citations
  A genetic polymorphism that is associated with mitochondrial energy metabolism increases risk of fibromyalgia.
  Miranda A.L. van Tilburg, Marc Parisien, Richard G. Boles, Gillian L. Drury, Julian Smith-Voudouris, Vivek Verma, Samar Khoury, Anne-Julie Chabot-Doré, Andrea G. Nackl...> ;Pain. 2020 Jul 10
• 33 citations
  Molecular and clinical spectra of FBXL4 deficiency
  Ayman W. El-Hattab, Hongzheng Dai, Mohammed Almannai, Julia Wang, Eissa Faqeih, Ali Al Asmari, Mohammed A. Saleh, Mohammed A. O. Elamin, Majid Alfadhel, Fowzan S. Alku...> ;Human Mutation. 2017 Dec 1
• 46 citations
  Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans
  Douglas R. Smith, Christine M. Stanley, Ted R. Foss, Richard G. Boles, Kevin McKernan> ;Plos One. 2017 Nov 16
• 44 citations
  A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects
  Jinglan Zhang, Véronik Lachance, Adam Schaffner, Xianting Li, Anastasia Fedick, Lauren E. Kaye, Jun Liao, Jill A. Rosenfeld, Naomi Yachelevich, Mary Lynn Chu, Wendy G....> ;Plos Genetics. 2016 Apr 27
• 18 citations
  NextGen nuclear DNA sequencing in cyclic vomiting syndrome reveals a significant association with the stress‐induced calcium channel (RYR2)
  J. Lee, S. A. Wong, B. U. K. Li, Richard G. Boles> ;Neurogastroenterology and Motility. 2015 Jul 1
• 9 citations
  Hurt, tired and queasy: Specific variants in the ATPase domain of the TRAP1 mitochondrial chaperone are associated with common, chronic “functional” symptomatology inc...
  Richard G. Boles, Holly A. Hornung, Alastair E Moody, Thomas B. Ortiz, Stacey Wong, Julie M. Eggington, Christine M. Stanley, Mu Gao, Hongyi Zhou, Stephen F. McLaughli...> ;Mitochondrion. 2015 Jul 1
• 13 citations
  Increased prevalence of two mitochondrial DNA polymorphisms in functional disease: Are we describing different parts of an energy-depleted elephant?
  Richard G. Boles, Essam A. Zaki, Jonathan R. Kerr, Kingshuk Das, Sawona Biswas, Ann Gardner> ;Mitochondrion. 2015 Jul 1
• 16 citations
  Hepatoblastoma in a patient with methylmalonic aciduria.
  Randall Y. Chan, Leo Mascarenhas, Richard G. Boles, Nanda Kerkar, Yuri Genyk, Rajkumar Venkatramani> ;American Journal of Medical Genetics. Part A. 2015 Mar 1
• 57 citations
  Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genom...
  Marni J. Falk, Lishuang Shen, Michael A. Gonzalez, Jeremy Leipzig, Marie T. Lott, Alphons P. M. Stassen, Maria Angela Diroma, Daniel Navarro-Gomez, Philip E. Yeske, Re...> ;Molecular Genetics and Metabolism. 2015 Mar 1
• 65 citations
  Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl–tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensori...
  Jeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, Florin Sasarman, Simon Papillon-Cavanagh, Isabelle Thiffault, Katherine M. Sheldon, Christine Massicotte, Lysan...> ;Human Mutation. 2014 Nov 1
• 17 citations
  Quantitative pedigree analysis and mitochondrial DNA sequence variants in adults with cyclic vomiting syndrome
  Thangam Venkatesan, Essam A. Zaki, Nilay Kumar, Jyotirmoy Sengupta, Muhammad Ali, Baber Malik, Aniko Szabo, Miranda A.L. van Tilburg, Richard G. Boles> ;BMC Gastroenterology. 2014 Oct 21
• 5 citations
  Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary...
  James Lee, Stacey Wong, Richard G. Boles> ;European Journal of Pediatrics. 2014 May 27
• 7 citations
  Expanded genetic codes in next generation sequencing enable decontamination and mitochondrial enrichment.
  Kevin McKernan, Jessica Spangler, Lei Zhang, Vasisht Tadigotla, Stephen F. McLaughlin, Jason Warner, Amir S. Zare, Richard G. Boles> ;Plos One. 2014 May 2
• 11 citations
  Irritable Bowel Syndrome May Be Associated with Maternal Inheritance and Mitochondrial DNA Control Region Sequence Variants
  Miranda A.L. van Tilburg, Essam A. Zaki, Thangam Venkatesan, Richard G. Boles> ;Digestive Diseases and Sciences. 2014 Feb 6
• 18 citations
  Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.
  Mark A. Tarnopolsky, Brandon F. Meaney, Brian H. Robinson, Katherine M. Sheldon, Richard G. Boles> ;American Journal of Medical Genetics. Part A. 2013 Aug 1
• 4 citations
  Comment on treatment of psychiatric illness in patients with mitochondrial disease.
  Ann Gardner, Richard G. Boles> ;Psychosomatics. 2011 Sep 1
• 41 citations
  High degree of efficacy in the treatment of cyclic vomiting syndrome with combined co-enzyme Q10, L-carnitine and amitriptyline, a case series
  Richard G. Boles> ;BMC Neurology. 2011 Aug 16
• 230 citations
  Beyond the serotonin hypothesis: mitochondria, inflammation and neurodegeneration in major depression and affective spectrum disorders.
  Ann Gardner, Richard G. Boles> ;Progress in Neuro-Psychopharmacology & Biological Psychiatry. 2011 Apr 29
• 13 citations
  Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: A mitochondrial DNA depletion disorder
  Linda M. Randolph, Hollie A. Jackson, Jing Wang, Hiroyuki Shimada, Pedro A. Sanchez-Lara, Derek Wong, Lee-Jun C. Wong, Richard G. Boles> ;Molecular Genetics and Metabolism. 2011 Feb 1
• 5 citations
  Liver failure with coagulopathy, hyperammonemia and cyclic vomiting in a toddler revealed to have combined heterozygosity for genes involved with ornithine transcarbam...
  Valerie Mira, Richard G. Boles> ;JIMD Reports. 2011 Sep 22
• 51 citations
  Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
  Fangyuan Li, Ayman W. El-Hattab, Erawati V. Bawle, Richard G. Boles, Eric S. Schmitt, Fernando Scaglia, Lee-Jun C. Wong> ;Human Mutation. 2010 Aug 1
• 16 citations
  Transient Leukoencephalopathy Associated With X-Linked Charcot-Marie-Tooth Disease
  Tena Rosser, Jason Muir, Ashok Panigrahy, Erin E. Baldwin, Richard G. Boles> ;Journal of Child Neurology. 2010 May 14
• 2 citations
  Should patients be screened for 12S rRNA mutations before treatment with aminoglycosides
  Richard G. Boles, Philippe Friedlich> ;Mitochondrion. 2010 Mar 16
• 18 citations
  Maternal inheritance in recurrent early-onset depression.
  Eric R. Bergemann, Richard G. Boles> ;Psychiatric Genetics. 2010 Feb 1
• 61 citations
  Treatment of cyclic vomiting syndrome with co-enzyme Q10 and amitriptyline, a retrospective study.
  Richard G. Boles, Mary R Lovett-Barr, Amy Preston, B Uk Li, Kathleen Adams> ;BMC Neurology. 2010 Jan 28
• Join now to see all

Other

• Cyclic vomiting syndrome 
  Boles RG, Desilets DJ, Dulude E
  http://www.uptodate.com/contents/cyclic-vomiting-syndrome
  UpToDate, Wolters Kluwer Health - 2012-09-05