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Reflex sympathetic dystrophy: complex regional pain syndrome type I in children with mitochondrial disease and maternal inheritance

Archives of disease in childhood, 2008-05, Vol.93 (5), p.390-397

2008

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Two Common Mitochondrial DNA Polymorphisms are Highly Associated with Migraine Headache and Cyclic Vomiting Syndrome

Cephalalgia, 2009-07, Vol.29 (7), p.719-728

2009

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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

Neurogastroenterology and motility, 2009-09, Vol.21 (9), p.936-e72

2009

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Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13

American journal of human genetics, 1996-07, Vol.59 (1), p.146-151

1996

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NextGen nuclear DNA sequencing in cyclic vomiting syndrome reveals a significant association with the stress‐induced calcium channel (RYR2)

Neurogastroenterology and motility, 2015-07, Vol.27 (7), p.990-996

2015

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Sex Ratios and Mitochondrial Genetics in Migraine

Cephalalgia, 2008-09, Vol.28 (9), p.1001-1002

2008

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Cyclic vomiting syndrome and mitochondrial DNA mutations

The Lancet (British edition), 1997-11, Vol.350 (9087), p.1299-1300

1997

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Cyclic vomiting syndrome in adults

Neurogastroenterology and motility, 2008-04, Vol.20 (4), p.269-284

2008

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Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life

The Journal of pediatrics, 1998-06, Vol.132 (6), p.924-933

1998

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Detection of Mitochondrial DNA Mutations by Temporal Temperature Gradient Gel Electrophoresis

Clinical chemistry (Baltimore, Md.), 1999-08, Vol.45 (8), p.1162-1167

1999

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Mitochondrial disease and cyclic vomiting syndrome

Digestive diseases and sciences, 1999-08, Vol.44 (8), p.103S-107S

1999

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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

Journal of inherited metabolic disease, 2003-01, Vol.26 (5), p.481-488

2003

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Very long‐chain acyl‐CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly

Journal of inherited metabolic disease, 2002-06, Vol.25 (4), p.315-316

Boles, R. G.

2002

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Brain phenylalanine concentration in the management of adults with phenylketonuria

Journal of inherited metabolic disease, 2000-02, Vol.23 (1), p.7-14

2000

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Increased prevalence of two mitochondrial DNA polymorphisms in functional disease: Are we describing different parts of an energy-depleted elephant?

Mitochondrion, 2015-07, Vol.23, p.1-6

2015

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Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease

European journal of pediatrics, 1998-08, Vol.157 (8), p.643-647

1998

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Macular Pattern Retinal Dystrophy, Adult-onset Diabetes, and Deafness: A Family Study of A3243G Mitochondrial Heteroplasmy

American journal of ophthalmology, 1997-08, Vol.124 (2), p.217-221

1997

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Glucose transporter type 1 deficiency : a study of two cases with video-EEG

European journal of pediatrics, 1999-12, Vol.158 (12), p.978-983

1999

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Beyond the serotonin hypothesis: Mitochondria, inflammation and neurodegeneration in major depression and affective spectrum disorders

Progress in neuro-psychopharmacology & biological psychiatry, 2011-04, Vol.35 (3), p.730-743

2011

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Severe reversible cardiomyopathy in four unrelated infants associated with mitochondrial DNA D-loop heteroplasmy

Pediatric cardiology, 2003-09, Vol.24 (5), p.484-487

2003

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Somatic mosaicism for deletion of the entire NF1 gene identified by FISH

Human genetics, 1997-02, Vol.99 (2), p.209-213

1997

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Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease

American journal of medical genetics, 2003-08, Vol.120A (4), p.474-482

2003

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Specific high-affinity binding sites for [3H]Ro 5-4864 in rat brain and kidney

The Journal of pharmacology and experimental therapeutics, 1983-04, Vol.225 (1), p.61

1983

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Rapid detection of FGFR mutations in syndromic craniosynostosis by temporal temperature gradient gel electrophoresis

Clinical chemistry (Baltimore, Md.), 1999-11, Vol.45 (11), p.2005-2006

1999

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Cerebral aqueductal stenosis as a presentation of deletion 6q25-qter

Clinical genetics, 1998-04, Vol.53 (4), p.317-318

Boles, Susan Koh Richard G.

1998

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Reflex sympathetic dystrophy: complex regional pain syndrome type I in children with mitochondrial disease and maternal inheritance

Two Common Mitochondrial DNA Polymorphisms are Highly Associated with Migraine Headache and Cyclic Vomiting Syndrome

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

Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13

NextGen nuclear DNA sequencing in cyclic vomiting syndrome reveals a significant association with the stress‐induced calcium channel (RYR2)

Sex Ratios and Mitochondrial Genetics in Migraine

Cyclic vomiting syndrome and mitochondrial DNA mutations

Cyclic vomiting syndrome in adults

Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life

Detection of Mitochondrial DNA Mutations by Temporal Temperature Gradient Gel Electrophoresis

Mitochondrial disease and cyclic vomiting syndrome

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

Very long‐chain acyl‐CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly

Brain phenylalanine concentration in the management of adults with phenylketonuria

Increased prevalence of two mitochondrial DNA polymorphisms in functional disease: Are we describing different parts of an energy-depleted elephant?

Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease

Macular Pattern Retinal Dystrophy, Adult-onset Diabetes, and Deafness: A Family Study of A3243G Mitochondrial Heteroplasmy

Glucose transporter type 1 deficiency : a study of two cases with video-EEG

Beyond the serotonin hypothesis: Mitochondria, inflammation and neurodegeneration in major depression and affective spectrum disorders

Severe reversible cardiomyopathy in four unrelated infants associated with mitochondrial DNA D-loop heteroplasmy

Somatic mosaicism for deletion of the entire NF1 gene identified by FISH

Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease

Specific high-affinity binding sites for [3H]Ro 5-4864 in rat brain and kidney

Rapid detection of FGFR mutations in syndromic craniosynostosis by temporal temperature gradient gel electrophoresis

Cerebral aqueductal stenosis as a presentation of deletion 6q25-qter

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