Research Topics
Species | Richard G BolesSummaryAffiliation: University of Southern California Country: USA Publications
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Publications
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..
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....
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....
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....
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...
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....
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...
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...
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...
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...
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...
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
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 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...
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...
