Research Topics
Species | R G BolesSummaryAffiliation: University of Southern California Country: USA Publications
Research Grants
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Detail Information
Publications
High degree of efficacy in the treatment of cyclic vomiting syndrome with combined co-enzyme Q10, L-carnitine and amitriptyline, a case seriesRichard G Boles
Division of Medical Genetics and the Saban Research Institute, Children s Hospital Los Angeles, California, USA
BMC Neurol 11:102. 2011..Limited data suggests that the anti-migraine therapies amitriptyline and cyproheptadine, and the mitochondrial-targeted cofactors co-enzyme Q10 and L-carnitine, have efficacy in episode prophylaxis...
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 3010AR G Boles
Division of Medical Genetics and the Saban Research Institute, Childrens Hospital Los Angeles, CA 90027, USA
Neurogastroenterol Motil 21:936-e72. 2009....
Combined cyclic vomiting and Kearns-Sayre syndromesRichard G Boles
Division of Medical Genetics, Childrens Hospital Los Angeles, and Department of Pediatrics, Keck School of Medicine at the University of Southern California, Los Angeles 90027, USA
Pediatr Neurol 36:135-6. 2007..However, finding a rearrangement has clinical implications, and standard testing is recommended in those cyclic vomiting syndrome cases with neuromuscular disease and/or growth retardation, whether maternal inheritance is present or not...- A patient with arginase deficiency and episodic hyperammonemia successfully treated with menses cessationRichard G Boles
Division of Medical Genetics and the Saban Research Institute, Childrens Hospital Los Angeles, Los Angeles, CA 90027, USA
Mol Genet Metab 89:390-1. 2006..A similar case was previously reported. A catamenial trigger should be considered in adolescent female arginase-deficient patients with episodes of hyperammonemia... - Cyclic vomiting syndrome plusRichard G Boles
Division of Medical Genetics, Childrens Hospital Los Angeles, Los Angeles, CA 90027, USA
J Child Neurol 21:182-8. 2006.... - A high predisposition to depression and anxiety in mothers and other matrilineal relatives of children with presumed maternally inherited mitochondrial disordersRichard G Boles
Division of Medical Genetics and the Saban Research Institute, Children s Hospital Los Angeles, 4650 Sunset Boulevard, Los Angeles, CA 90027, USA
Am J Med Genet B Neuropsychiatr Genet 137:20-4. 2005..Thus, "genome-wide" studies to screen for genes associated with depression and anxiety should not neglect the small, yet important, mitochondrial genome... - Treatment of cyclic vomiting syndrome with co-enzyme Q10 and amitriptyline, a retrospective studyRichard G Boles
Division of Medical Genetics and the Saban Research Institute, Childrens Hospital Los Angeles, 4650 Sunset Blvd, Los Angeles, California 90027, USA
BMC Neurol 10:10. 2010..Co-enzyme Q10 (Co-Q) is a nutritional supplement that has demonstrated efficacy in pediatric and adult migraine. It is increasingly used in CVS despite the complete lack of studies to demonstrate its value in treatment.. - Glucose transporter type 1 deficiency: a study of two cases with video-EEGR G Boles
Medical Genetics, Box 90, Childrens Hospital Los Angeles, 4650 Sunset Blvd, Los Angeles, California 90027, USA
Eur J Pediatr 158:978-83. 1999..Our data suggest that the therapeutic mechanism of the ketogenic diet in this disorder is more complicated than simply delivering ketones as an alternative substrate for brain metabolism... - Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegalyR G Boles
Division of Medical Genetics, Childrens Hospital Los Angeles, CA 90027, USA
J Inherit Metab Dis 25:315-6. 2002..He was diagnosed with very long-chain acyl-CoA dehydrogenase deficiency and has been successfully treated... - Maternal inheritance in cyclic vomiting syndrome with neuromuscular diseaseRichard G Boles
Division of Medical Genetics, Childrens Hospital Los Angeles, Los Angeles, California 90027, USA
Am J Med Genet A 120:474-82. 2003.... - Quantification of mitochondrial DNA heteroplasmy by temporal temperature gradient gel electrophoresisRichard G Boles
Division of Medical Genetics, Childrens Hospital Los Angeles, Los Angeles, CA 90027, USA
Clin Chem 49:198-200. 2003 - Two common mitochondrial DNA polymorphisms are highly associated with migraine headache and cyclic vomiting syndromeE A Zaki
Division of Medical Genetics, Children s Hospital Los Angeles, Los Angeles, CA 90027, USA
Cephalalgia 29:719-28. 2009..6%). Our data suggest that these polymorphisms constitute a substantial proportion of the genetic factor in migraine pathogenesis, and strengthen the hypothesis that there is a component of mitochondrial dysfunction in migraine... - Maternal inheritance in recurrent early-onset depressionEric R Bergemann
Division of Medical Genetics, Saban Research Institute, Childrens Hospital Los Angeles, Los Angeles, California 90027, USA
Psychiatr Genet 20:31-4. 2010..Thus, our data strengthen the hypothesis that energy metabolism may be involved in the pathogenesis of depression... - Mitochondrial inheritance in depression, dysmotility and migraine?Brittany B Burnett
Division of Medical Genetics and the Saban Research Institute, Childrens Hospital Los Angeles, CA 90027, USA
J Affect Disord 88:109-16. 2005.... - Reflex sympathetic dystrophy: complex regional pain syndrome type I in children with mitochondrial disease and maternal inheritanceT Higashimoto
Division of Medical Genetics and the Saban Research Institute, Childrens Hospital Los Angeles, Los Angeles, California, USA
Arch Dis Child 93:390-7. 2008..The objective of this report is to demonstrate that children with CRPS-I can have additional dysautonomic conditions secondary to an underlying maternally inherited mitochondrial disease, an association not previously published... - Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndromeS Yano
Medical Genetics, Department of Pediatrics, Children s Hospital Los Angeles, University of Southern California, Keck School of Medicine, Los Angeles, California 90027, USA
J Inherit Metab Dis 26:481-8. 2003..Mitochondrial depletion should be considered in infants with atypical organic aciduria that may resemblemethylmalonicaciduria, propionicacidaemia, or 3-methylcrotonyl-CoA carboxylase deficiency... - Maternal inheritance in cyclic vomiting syndromeRichard G Boles
Division of Medical Genetics and the Saban Research Institute, Childrens Hospital Los Angeles, Los Angeles, California, USA
Am J Med Genet A 133:71-7. 2005.... - Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth diseaseTena Rosser
Division of Neurology, Childrens Hospital Los Angeles, and Department of Pediatrics, University of Southern California Keck School of Medicine, Los Angeles, California 90027, USA
J Child Neurol 25:1013-6. 2010..A family history of Charcot-Marie-Tooth disease was revealed late in his presentation, and genetic testing identified a mutation in the GJB1 gene that has not previously been associated with central nervous system involvement... - FGFR mutations and plagiocephalyValairat Dhamcharee
Division of Neonatal Medicine, Children s Hospital Los Angeles, 4650 Sunset Boulevard, Los Angeles, CA 90027, USA
J Craniofac Surg 19:290-1. 2008..No sequence variation was found, indicating that mutations in the "hot spot" exons are not associated with this common developmental condition; however, we did not assay most of the exons or related genes... - Mitochondrial DNA control region sequence variation in migraine headache and cyclic vomiting syndromeQingxue Wang
Division of Medical Genetics, Childrens Hospital Los Angeles, California, USA
Am J Med Genet A 131:50-8. 2004..A mitochondrial component in the pathogenesis of migraine and CVS has therapeutic implications, especially concerning the avoidance of fasting... - Mitochondrial DNA depletion, near-fatal metabolic acidosis, and liver failure in an HIV-infected child treated with combination antiretroviral therapyJ A Church
Departments of Pediatrics and Laboratory Medicine, Childrens Hospital Los Angeles, and the University of Southern California School of Medicine, Los Angeles, USA
J Pediatr 138:748-51. 2001..After adjustment of antiretroviral therapy to a regimen free of nucleoside analogs, marked improvement was seen in clinical status and mt abnormalities... - Severe reversible cardiomyopathy in four unrelated infants associated with mitochondrial DNA D-loop heteroplasmyR G Boles
Division of Medical Genetics, Childrens Hospital Los Angeles, 4650 Sunset Boulevard, Los Angeles, CA 90027, USA
Pediatr Cardiol 24:484-7. 2003..D-loop point heteroplasmy may be a marker for severe, reversible, infantile multisystem disease that can present with cardiomyopathy... - Individual human hair mitochondrial DNA control region heteroplasmy proportions in mothers and childrenQingxue Wang
Division of Medical Genetics, The Saban Research Institute, Childrens Hospital Los Angeles, Box 90, Los Angeles, CA 90027, USA
Mitochondrion 6:37-42. 2006..However, mother-child heteroplasmic variability did not exceed intra-individual variability in the mothers alone... - Mitochondrial disorders: a potentially under-recognized etiology of infantile spasmsNamrata S Shah
Division of Neurology, Childrens Hospital Los Angeles, CA, USA
J Child Neurol 17:369-72. 2002..Among our cases remaining cryptogenic, signs of abnormal energy metabolism were prevalent, suggesting that metabolic derangements may be common causes or secondary consequences of infantile spasms... - Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison diseaseR G Boles
Medical Genetics, Children s Hospital Los Angeles, CA 90027, USA
Eur J Pediatr 157:643-7. 1998..Our report is the first of non-autoimmune Addison disease in KSS and patients with KSS should be evaluated for adrenal insufficiency. Early recognition of adrenal insufficiency is crucial to prevent mortality from this cause... - Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancyLee Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hepatology 46:1218-27. 2007..CONCLUSION: We therefore propose that mutations in the MPV17 gene be considered in the course of evaluating the molecular etiology for isolated, rapidly progressive infantile hepatic failure... - Mitochondrial energy depletion in depression with somatizationAnn Gardner
Psychother Psychosom 77:127-9. 2008 - Mitochondrial DNA analysis in clinical laboratory diagnosticsLee-Jun C Wong
Institute for Molecular and Human Genetics, Georgetown University Medical Center, 3800 Reservoir Road, NW, M4000, Washington, DC 20007, USA
Clin Chim Acta 354:1-20. 2005..Prenatal diagnosis is problematic in most cases...
Research Grants
- MITOCHONDRIAL DNA ANALYSIS IN CYCLIC VOMITING SYNDROMERichard Boles; Fiscal Year: 2002..An extensive amount of clinical and laboratory data will be collected in all patients, allowing for the comparison of CVS sufferers with and without mtDNA mutations. ..