{"id":29,"date":"2017-07-12T00:51:35","date_gmt":"2017-07-12T00:51:35","guid":{"rendered":"http:\/\/localhost\/wordpress-4.8\/wordpress\/?page_id=29"},"modified":"2025-10-13T03:10:35","modified_gmt":"2025-10-13T03:10:35","slug":"publications","status":"publish","type":"page","link":"http:\/\/molecularmitomd.com\/?page_id=29","title":{"rendered":"Publications"},"content":{"rendered":"<p>[vc_row][vc_column][vc_column_text]<\/p>\n<h1>For the full list of Pubmed-listed publications, <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=boles+rg&amp;show_snippets=off\" target=\"_blank\" rel=\"noopener noreferrer\">click here<\/a><\/h1>\n<p>&nbsp;<\/p>\n<h3><strong>Selected open access publications:<\/strong><\/h3>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC12470000\/\">De Novo Variants Predominate in Autism Spectrum Disorder.<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4586064\/pdf\/nihms725219.pdf\" target=\"_blank\" rel=\"noopener noreferrer\">Hurt, tired and queasy: Specific variants in the ATPase domain of the TRAP1 mitochondrial chaperone are associated with common, chronic \u201cfunctional\u201d symptomatology including pain, fatigue and gastrointestinal dysmotility<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4071137\/pdf\/nihms563573.pdf\" target=\"_blank\" rel=\"noopener noreferrer\">Irritable Bowel Syndrome may be associated with maternal inheritance and mitochondrial DNA control region sequence variants<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3163531\/pdf\/1471-2377-11-102.pdf\" target=\"_blank\" rel=\"noopener noreferrer\">High degree of efficacy in the treatment of cyclic vomiting syndrome with combined co-enzyme Q10, L-carnitine and amitriptyline, a case series<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4287476\/pdf\/12876_2014_Article_1208.pdf\">Quantitative pedigree analysis and mitochondrial DNA sequence variants in adults with cyclic vomiting syndrome<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2825193\/\" target=\"_blank\" rel=\"noopener noreferrer\">Treatment of cyclic vomiting syndrome with co-enzyme Q10 and amitriptyline, a retrospective study<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"http:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-2982.2008.01113.x\/epdf\" target=\"_blank\" rel=\"noopener noreferrer\">Cyclic vomiting syndrome in adults<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2278159\/pdf\/1751-0759-2-7.pdf\" target=\"_blank\" rel=\"noopener noreferrer\">Symptoms of somatization as a rapid screening tool for mitochondrial dysfunction in depression<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/18192313\" target=\"_blank\" rel=\"noopener noreferrer\">Reflex sympathetic dystrophy: complex regional pain syndrome type I in children with mitochondrial disease and maternal inheritance.<\/a><\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p><strong>Abstracts of additional selected publications (2000 to present):<\/strong><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25934187\" target=\"_blank\" rel=\"noopener noreferrer\">Increased prevalence of two mitochondrial DNA polymorphisms in functional disease: Are we describing different parts of an energy-depleted elephant?<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25934187\" target=\"_blank\" rel=\"noopener noreferrer\">NextGen nuclear DNA sequencing in cyclic vomiting syndrome reveals a significant association with the stress-induced calcium channel (RYR2).<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22480934\" target=\"_blank\" rel=\"noopener noreferrer\">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.<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/20691744\" target=\"_blank\" rel=\"noopener noreferrer\">Beyond the serotonin hypothesis: mitochondria, inflammation and neurodegeneration in major depression and affective spectrum disorders.<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/20010317\" target=\"_blank\" rel=\"noopener noreferrer\">Maternal inheritance in recurrent early-onset depression.<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/19368653\" target=\"_blank\" rel=\"noopener noreferrer\">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.<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/19220304\" target=\"_blank\" rel=\"noopener noreferrer\">Two common mitochondrial DNA polymorphisms are highly associated with migraine headache and cyclic vomiting syndrome.<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/19147801\" target=\"_blank\" rel=\"noopener noreferrer\">Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders.<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/18728540\" target=\"_blank\" rel=\"noopener noreferrer\">North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition consensus statement on the diagnosis and management of cyclic vomiting syndrome.<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/16901417\" target=\"_blank\" rel=\"noopener noreferrer\">Cyclic vomiting syndrome\u00a0plus.<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/17275670\" target=\"_blank\" rel=\"noopener noreferrer\">Combined cyclic vomiting and Kearns-Sayre syndromes.<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/16019080\" target=\"_blank\" rel=\"noopener noreferrer\">Mitochondrial inheritance in depression, dysmotility and migraine?<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15965966\" target=\"_blank\" rel=\"noopener noreferrer\">A high predisposition to depression and anxiety in mothers and other matrilineal relatives of children with presumed maternally inherited mitochondrial disorders.<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15748595\" target=\"_blank\" rel=\"noopener noreferrer\">Mitochondrial DNA analysis in clinical laboratory diagnostics<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15643622\" target=\"_blank\" rel=\"noopener noreferrer\">Maternal inheritance in cyclic vomiting syndrome.<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15368478\" target=\"_blank\" rel=\"noopener noreferrer\">Mitochondrial DNA control region sequence variation in migraine headache and cyclic vomiting syndrome.<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/12884425\" target=\"_blank\" rel=\"noopener noreferrer\">Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease.<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/38256266\/\">Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/37511746\/\">Synchrony 2022: The Role of Neuroinflammation in Behavioral Exacerbations in Autism Spectrum Disorder<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/37234784\/\">Whole exome\/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/36983738\/\">Synchrony 2022: Epilepsy and Seizures in Autism Spectrum Disorder Roundtable<\/a><\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35207636\/\">A Personalized Approach to Evaluating and Treating Autism Spectrum Disorder<\/a>[\/vc_column_text][\/vc_column][\/vc_row]<\/p>\n","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column][vc_column_text] For the full list of Pubmed-listed publications, click here &nbsp; Selected open access publications: &nbsp; De Novo Variants Predominate in Autism Spectrum Disorder. &nbsp; Hurt, tired and queasy: Specific variants in the ATPase domain of the TRAP1 mitochondrial chaperone are associated with common, chronic \u201cfunctional\u201d symptomatology including pain, fatigue and gastrointestinal dysmotility &nbsp; Irritable [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-29","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages\/29","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages"}],"about":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=29"}],"version-history":[{"count":11,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages\/29\/revisions"}],"predecessor-version":[{"id":691,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages\/29\/revisions\/691"}],"wp:attachment":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=29"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}