Genetics, Rett syndrome, MECP2, Internal medicine and Pediatrics are his primary areas of study. His Rett syndrome study combines topics from a wide range of disciplines, such as Regulation of gene expression, Neuroscience, Motor coordination, METHYL-CpG-BINDING PROTEIN 2 and Severity of illness. John Christodoulou has included themes like Neurodevelopmental disorder, Epidemiology, X chromosome and Age of onset in his MECP2 study.
John Christodoulou interconnects Gastroenterology and Endocrinology in the investigation of issues within Internal medicine. The concepts of his Pediatrics study are interwoven with issues in Encephalopathy, Central nervous system disease, Degenerative disease, Cohort study and Epilepsy. His Mutation study combines topics in areas such as Molecular biology, Respiratory chain, Mitochondrion, Mitochondrial respiratory chain and Cytochrome.
His primary areas of investigation include Genetics, Rett syndrome, Internal medicine, Endocrinology and MECP2. He studied Genetics and Molecular biology that intersect with Mitochondrion. John Christodoulou has researched Rett syndrome in several fields, including Central nervous system disease, Neurodevelopmental disorder, CDKL5, Genotype and Pediatrics.
His Pediatrics research integrates issues from Surgery, Cohort study and Epilepsy. His research on Internal medicine often connects related topics like Gastroenterology. His study connects X chromosome and MECP2.
John Christodoulou mostly deals with Genetics, Phenotype, Exome sequencing, Mitochondrial disease and Cell biology. The various areas that John Christodoulou examines in his Phenotype study include Molecular biology, KIF1A and In silico. His Exome sequencing research is multidisciplinary, relying on both Congenital disorder of glycosylation, Proband, Glycosylation, Intensive care and Medical genetics.
His studies in Mitochondrial disease integrate themes in fields like Genome, Heteroplasmy, Genomics, Exome and DNA sequencing. His Allele research is multidisciplinary, incorporating elements of Mutation and Disease. As a member of one scientific family, John Christodoulou mostly works in the field of Neurodevelopmental disorder, focusing on CDKL5 and, on occasion, Rett syndrome.
His primary scientific interests are in Genetics, Exome sequencing, Mitochondrial disease, Gene and Genetic testing. Missense mutation, Human genetics, Protein subunit, Exon and Microcephaly are the primary areas of interest in his Genetics study. His Missense mutation study integrates concerns from other disciplines, such as MECP2, Allele and Whole genome sequencing.
The subject of his Mitochondrial disease research is within the realm of Mitochondrial DNA. His Mitochondrial DNA research includes themes of Genetic heterogeneity, Respiratory chain and Cohort. His study in Phenotype is interdisciplinary in nature, drawing from both Kinesin, Microtubule, KIF1A, Neurite and Rett syndrome.
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Rett syndrome: Revised diagnostic criteria and nomenclature
Jeffrey L. Neul;Walter E. Kaufmann;Daniel G. Glaze;John Christodoulou.
Annals of Neurology (2010)
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
Shamima Rahman;R. B. Blok;H. H. M. Dahl;David M. Danks.
Annals of Neurology (1996)
Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.
Y Tatuch;J Christodoulou;A Feigenbaum;J T Clarke.
American Journal of Human Genetics (1992)
Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation
Linda S. Weaving;John Christodoulou;John Christodoulou;Sarah L. Williamson;Sarah L. Williamson;Kathie L. Friend.
American Journal of Human Genetics (2004)
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
Sarah E. Calvo;Alison G. Compton;Steven G. Hershman;Steven G. Hershman;Sze Chern Lim;Sze Chern Lim.
Science Translational Medicine (2012)
Rett Syndrome in Australia: A Review of the Epidemiology
Crystal L. Laurvick;Nicholas de Klerk;Carol Bower;John Christodoulou.
The Journal of Pediatrics (2006)
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
Lisa G. Riley;Sandra Cooper;Sandra Cooper;Peter Hickey;Joëlle Rudinger-Thirion.
American Journal of Human Genetics (2010)
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
Stephanie Fehr;Meredith Wilson;Meredith Wilson;Jennepher Downs;Jennepher Downs;Simon Williams.
European Journal of Human Genetics (2013)
Rett syndrome: clinical review and genetic update
L S Weaving;C J Ellaway;J Gécz;J Christodoulou.
Journal of Medical Genetics (2005)
Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice.
Gregory J. Pelka;Catherine M. Watson;Tania Radziewic;Melinda Hayward.
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