List of works by John Christodoulou

"Reducing body"-like inclusions in skeletal muscle in childhood-onset acid maltase deficiency

scientific article published in January 1992

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

scientific article published on 12 September 2012

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

scientific article

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

scientific article published on 23 January 2014

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

scientific article published on 21 April 2016

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.

scientific article

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant

article

A population-based approach to the investigation of osteopenia in Rett syndrome

scientific article published on 01 May 1999

A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases

scientific article published in October 2007

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

scientific article published on 05 June 2020

Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders

scientific article published in March 2002

Adaptation of a mitochondrial complex III assay for automation: examination of reproducibility and precision

scientific article published on 01 February 2003

Affective dysfunction in a mouse model of Rett syndrome: Therapeutic effects of environmental stimulation and physical activity

scientific article

Alleviating transcriptional inhibition of the norepinephrine slc6a2 transporter gene in depolarized neurons

scientific article published in January 2010

Allogeneic bone marrow transplantation: cure for familial Mediterranean fever.

scientific article published on August 2002

An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples

scientific article published on 20 July 2011

An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency.

scientific article published in May 1993

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

scientific article published on 20 April 2021

Arts syndrome is caused by loss-of-function mutations in PRPS1

scientific article

Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts.

scientific article published in July 1993

Atypical pyroglutamic aciduria: possible role of paracetamol

scientific article published on 01 January 1990

Automated analysis of mitochondrial enzymes in cultured skin fibroblasts

scientific article published in June 1998

Automated quantitation of total protein in cultured skin fibroblasts

scientific article published in March 1997

Autopsy findings in two siblings with infantile Refsum disease

scientific article

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

scientific article published on 17 January 2022

Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon

scientific article published on 07 June 2019

Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis

scientific article published on 01 June 1994

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

scientific article published on 19 November 2019

Clinical approach to inborn errors of metabolism presenting in the newborn period.

scientific article

Clinical genomic testing: what matters to key stakeholders?

scientific article published on 05 February 2020

Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness

scientific article published on November 2007

Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome

scientific article published on 01 July 2009

Complex I deficiency in association with structural abnormalities of the diaphragm and brain

scientific article

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

scientific article

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia

scientific article

Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.

scientific article published on 27 April 2009

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.

scientific article published on 11 August 2006

Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders

scientific article published in April 2010

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

scientific article published on 10 December 2014

Deletion hotspot in the argininosuccinate lyase gene: association with topoisomerase II and DNA polymerase alpha sites

scientific article published on 01 November 2006

Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype

scientific article

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.

scientific article

Disorders of riboflavin metabolism

scientific article published on 11 March 2019

Distinct expression profiles of Mecp2 transcripts with different lengths of 3'UTR in the brain and visceral organs during mouse development

scientific article published in April 2005

Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain.

scientific article

Early copper-histidine treatment for Menkes disease

scientific article published on 01 January 1996

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing

scientific article published on 29 July 2019

Early onset seizures and Rett-like features associated with mutations in CDKL5.

scientific article published in October 2005

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.

scientific article published on 3 September 2015

Enlarged temporal lobes in Turner syndrome: an X-chromosome effect?

scientific article published on February 2004

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

scientific article

Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.

scientific article published on 20 July 2009

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

scientific article published on 11 July 2020

Experience of gastrostomy using a quality care framework: the example of rett syndrome

scientific article

Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.

scientific article published on 9 February 2016

Family satisfaction following spinal fusion in Rett syndrome.

scientific article

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

scientific article published on 09 July 2020

First prenatal diagnosis of the carnitine transporter defect

scientific article published on 01 December 1996

Flow cytometry in the study of mitochondrial respiratory chain disorders.

scientific article published in May 2002

Functional abilities in children and adults with the CDKL5 disorder.

scientific article

Genome-wide linkage of obstructive sleep apnoea and high-density lipoprotein cholesterol in a Filipino family: bivariate linkage analysis of obstructive sleep apnoea

scientific article

Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets

scientific article published on 23 August 2019

Genotype and early development in Rett syndrome: the value of international data

scientific article published on 22 September 2005

Glutaric aciduria type I: outcome following detection by newborn screening

scientific article

Guidelines for reporting clinical features in cases with MECP2 mutations

scientific article

Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.

scientific article published on 28 November 2012

Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis

scientific article published on 01 December 2000

In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria

scientific article published on 27 March 2013

Inborn errors of purine metabolism: clinical update and therapies.

scientific article

Inborn errors of pyrimidine metabolism: clinical update and therapy

scientific article (publication date: September 2014)

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.

scientific article

Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes

scientific article published on 03 August 2009

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

scientific article

Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles

scientific article published on 01 March 1997

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

scientific article published in 2022

Leigh syndrome caused by mutations in is associated with a better prognosis

article

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

scientific article

MECP2 genomic structure and function: insights from ENCODE

scientific article published on 27 September 2008

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

scientific journal article

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.

scientific article published in January 2011

Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice

scientific journal article

Medium-term open label trial of L-carnitine in Rett syndrome.

scientific article published in December 2001

Metabolic stroke in methylmalonic acidemia

scientific article published on 01 September 1989

Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): implications for the disease phenotype

scientific article published on 6 March 2014

Mitochondrial electron transport chain defect presenting as hypoglycemia

scientific article published on 01 March 1997

Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin

scientific article

Mitochondrial respiratory chain disorders in childhood: insights into diagnosis and management in the new era of genomic medicine.

scientific article published on 28 December 2013

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.

scientific article

Multi-omic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10

scientific article published on 10 November 2020

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

scientific article published on 2 January 2015

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

scientific article

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

scientific article

Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography.

scientific article published on 11 November 2004

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

scientific article published on August 2013

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

scientific article published on 28 June 2013

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

scientific article

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

scientific article

Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin.

scientific article published in February 2012

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

scientific article

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

scientific article

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

scientific article

NTNG1 mutations are a rare cause of Rett syndrome

scientific article

Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features

scientific article published on 01 January 1995

Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia

scientific article published in January 2016

Novel Mitochondrial DNA Variant That May Give a False Positive Diagnosis for the T8993C Mutation

scientific article published on 01 June 1998

Novel mitochondrial 16S rRNA polymorphism in a girl with Rett syndrome

scientific article published on 01 December 1999

OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.

scientific article published on January 2005

Origin of the prevalentSFTPBindel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency

scientific article published on 01 January 2006

Ornithine transcarbamylase deficiency presenting with strokelike episodes

scientific article published on 01 March 1993

PRPS1 mutations: four distinct syndromes and potential treatment.

scientific article

Pathology of hepatic peroxisomes and mitochondria in patients with peroxisomal disorders

scientific article published on 01 January 1990

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

scientific article published on July 2010

Perimortem laboratory investigation of genetic metabolic disorders.

scientific article published in August 2004

Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.

scientific article

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

scientific article published on 17 December 2013

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.

scientific article

Predictors of scoliosis in Rett syndrome.

scientific article published in September 2006

Predictors of seizure onset in Rett syndrome.

scientific article

Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations

scientific article

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient

scientific article

Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation

scientific article published on 11 May 2005

Rett syndrome in Australia: a review of the epidemiology.

scientific article

Rett syndrome: clinical characteristics and recent genetic advances

scientific article

Rett syndrome: clinical review and genetic update

scientific article

Rett syndrome: clinical update and review of recent genetic advances.

scientific article

Rett syndrome: new clinical and molecular insights.

scientific article published on August 2006

Rett syndrome: revised diagnostic criteria and nomenclature

scientific article

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

scientific article published on 21 October 2016

Seizures in Rett syndrome: an overview from a one-year calendar study

scientific article

Severe subacute necrotizing encephalopathy (Leigh-like syndrome) in American Staffordshire bull terrier dogs

scientific article

Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration.

scientific article published in December 2001

Solid organ transplantation in primary mitochondrial disease: Proceed with caution.

scientific article published on 20 April 2016

Spinocerebellar ataxia type 7: a distinctive form of autosomal dominant cerebellar ataxia with retinopathy and marked genetic anticipation

scientific article published on 01 February 2001

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing

scientific article published on 23 December 2015

Surfactant protein B deficiency: clinical, histological and molecular evaluation

scientific article published on 01 April 1999

Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience

scientific article published on 8 August 2005

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

scientific article

The Natural History of Scoliosis in Females With Rett Syndrome.

scientific article published on 14 December 2015

The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome

scientific article

The association of protein-losing enteropathy with cobalamin C defect

scientific article

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

scientific article

The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study

scientific article published on 23 March 2007

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

scientific article published on 22 May 2020

The molecular basis of malonyl-CoA decarboxylase deficiency.

scientific article

The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening

scientific article published on 4 February 2012

There is variability in the attainment of developmental milestones in the CDKL5 disorder.

scientific article

Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome

scientific article published on 01 March 2012

Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.

scientific article

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

scientific article

Trimethylaminuria: an under-recognised and socially debilitating metabolic disorder.

scientific article published on 31 January 2011

Trisomy 21 and Rett syndrome: a double burden

scientific article published in July 2004

Update on transcobalamin deficiency: clinical presentation, treatment and outcome

scientific article published on 05 December 2013

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

scientific article

Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders

scientific article published on 22 March 2015

Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient

scientific article published on 12 November 2019

X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype

scientific article published in June 2005

p.R270X MECP2 mutation and mortality in Rett syndrome

scientific article published on 01 November 2005

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