R G Boles

Summary

Affiliation: University of Southern California
Country: USA

Publications

  1. pmc 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
    Division of Medical Genetics and the Saban Research Institute, Children s Hospital Los Angeles, California, USA
    BMC Neurol 11:102. 2011
  2. doi request reprint 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
    R G Boles
    Division of Medical Genetics and the Saban Research Institute, Childrens Hospital Los Angeles, CA 90027, USA
    Neurogastroenterol Motil 21:936-e72. 2009
  3. ncbi request reprint Combined cyclic vomiting and Kearns-Sayre syndromes
    Richard 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
  4. ncbi request reprint A patient with arginase deficiency and episodic hyperammonemia successfully treated with menses cessation
    Richard 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
  5. ncbi request reprint Cyclic vomiting syndrome plus
    Richard G Boles
    Division of Medical Genetics, Childrens Hospital Los Angeles, Los Angeles, CA 90027, USA
    J Child Neurol 21:182-8. 2006
  6. ncbi request reprint A high predisposition to depression and anxiety in mothers and other matrilineal relatives of children with presumed maternally inherited mitochondrial disorders
    Richard 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
  7. pmc Treatment of cyclic vomiting syndrome with co-enzyme Q10 and amitriptyline, a retrospective study
    Richard 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
  8. ncbi request reprint Glucose transporter type 1 deficiency: a study of two cases with video-EEG
    R 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
  9. ncbi request reprint Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly
    R G Boles
    Division of Medical Genetics, Childrens Hospital Los Angeles, CA 90027, USA
    J Inherit Metab Dis 25:315-6. 2002
  10. ncbi request reprint Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease
    Richard G Boles
    Division of Medical Genetics, Childrens Hospital Los Angeles, Los Angeles, California 90027, USA
    Am J Med Genet A 120:474-82. 2003

Research Grants

Collaborators

Detail Information

Publications28

  1. pmc 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
    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...
  2. doi request reprint 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
    R G Boles
    Division of Medical Genetics and the Saban Research Institute, Childrens Hospital Los Angeles, CA 90027, USA
    Neurogastroenterol Motil 21:936-e72. 2009
    ....
  3. ncbi request reprint Combined cyclic vomiting and Kearns-Sayre syndromes
    Richard 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...
  4. ncbi request reprint A patient with arginase deficiency and episodic hyperammonemia successfully treated with menses cessation
    Richard 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...
  5. ncbi request reprint Cyclic vomiting syndrome plus
    Richard G Boles
    Division of Medical Genetics, Childrens Hospital Los Angeles, Los Angeles, CA 90027, USA
    J Child Neurol 21:182-8. 2006
    ....
  6. ncbi request reprint A high predisposition to depression and anxiety in mothers and other matrilineal relatives of children with presumed maternally inherited mitochondrial disorders
    Richard 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...
  7. pmc Treatment of cyclic vomiting syndrome with co-enzyme Q10 and amitriptyline, a retrospective study
    Richard 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..
  8. ncbi request reprint Glucose transporter type 1 deficiency: a study of two cases with video-EEG
    R 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...
  9. ncbi request reprint Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly
    R 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...
  10. ncbi request reprint Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease
    Richard G Boles
    Division of Medical Genetics, Childrens Hospital Los Angeles, Los Angeles, California 90027, USA
    Am J Med Genet A 120:474-82. 2003
    ..We conclude that mtDNA sequence variants are at least risk factors in the development of disease in most children at this "severe" end of the CVS spectrum, likely involving a maternally inherited propensity towards dysautonomia...
  11. ncbi request reprint Quantification of mitochondrial DNA heteroplasmy by temporal temperature gradient gel electrophoresis
    Richard G Boles
    Division of Medical Genetics, Childrens Hospital Los Angeles, Los Angeles, CA 90027, USA
    Clin Chem 49:198-200. 2003
  12. doi request reprint Two common mitochondrial DNA polymorphisms are highly associated with migraine headache and cyclic vomiting syndrome
    E 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...
  13. doi request reprint Maternal inheritance in recurrent early-onset depression
    Eric 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...
  14. ncbi request reprint 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
    ....
  15. doi request reprint Reflex sympathetic dystrophy: complex regional pain syndrome type I in children with mitochondrial disease and maternal inheritance
    T 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...
  16. ncbi request reprint 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 syndrome
    S 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...
  17. ncbi request reprint Maternal inheritance in cyclic vomiting syndrome
    Richard 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
    ....
  18. doi request reprint Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease
    Tena 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...
  19. doi request reprint FGFR mutations and plagiocephaly
    Valairat 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...
  20. ncbi request reprint Mitochondrial DNA control region sequence variation in migraine headache and cyclic vomiting syndrome
    Qingxue 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...
  21. ncbi request reprint Mitochondrial DNA depletion, near-fatal metabolic acidosis, and liver failure in an HIV-infected child treated with combination antiretroviral therapy
    J 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...
  22. ncbi request reprint Severe reversible cardiomyopathy in four unrelated infants associated with mitochondrial DNA D-loop heteroplasmy
    R 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...
  23. ncbi request reprint Individual human hair mitochondrial DNA control region heteroplasmy proportions in mothers and children
    Qingxue 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...
  24. ncbi request reprint Mitochondrial disorders: a potentially under-recognized etiology of infantile spasms
    Namrata 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...
  25. ncbi request reprint Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease
    R G Boles
    Medical Genetics, Children s Hospital Los Angeles, CA 90027, USA
    Eur J Pediatr 157:643-7. 1998
    ..We report on a 5-year-old boy with Addison disease in whom further investigation revealed a 4.9 kilobase mtDNA deletion and KSS. Later he developed severe lactic acidosis and expired...
  26. ncbi request reprint Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hepatology 46:1218-27. 2007
    ..We report 4 cases from 3 ethnically diverse families with MPV17 mutations. Importantly, 2 of these cases presented with isolated liver failure during infancy without notable neurologic dysfunction...
  27. doi request reprint Mitochondrial energy depletion in depression with somatization
    Ann Gardner
    Psychother Psychosom 77:127-9. 2008
  28. ncbi request reprint Mitochondrial DNA analysis in clinical laboratory diagnostics
    Lee 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 Grants1

  1. MITOCHONDRIAL DNA ANALYSIS IN CYCLIC VOMITING SYNDROME
    Richard 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. ..