about
The molecular basis of malonyl-CoA decarboxylase deficiency.Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expressionMutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial diseaseMutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndromeArts syndrome is caused by loss-of-function mutations in PRPS1Rett syndrome: revised diagnostic criteria and nomenclatureMutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translationNTNG1 mutations are a rare cause of Rett syndromeThe common BDNF polymorphism may be a modifier of disease severity in Rett syndromeRett syndrome: clinical review and genetic updateThe Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett SyndromeInborn errors of pyrimidine metabolism: clinical update and therapyThe CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyComprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemiaMitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavinMecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of miceMECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderInterpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotypeGenotype and early development in Rett syndrome: the value of international data.Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain.Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.Rett syndrome: clinical update and review of recent genetic advances.Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.PRPS1 mutations: four distinct syndromes and potential treatment.Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.Seizures in Rett syndrome: an overview from a one-year calendar studyClinical approach to inborn errors of metabolism presenting in the newborn period.Predictors of seizure onset in Rett syndrome.Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.There is variability in the attainment of developmental milestones in the CDKL5 disorder.Perimortem laboratory investigation of genetic metabolic disorders.Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
John Christodoulou
@ast
John Christodoulou
@en
John Christodoulou
@es
John Christodoulou
@nl
John Christodoulou
@sl
type
label
John Christodoulou
@ast
John Christodoulou
@en
John Christodoulou
@es
John Christodoulou
@nl
John Christodoulou
@sl
prefLabel
John Christodoulou
@ast
John Christodoulou
@en
John Christodoulou
@es
John Christodoulou
@nl
John Christodoulou
@sl
P106
P1153
7006708764
P21
P31
P496
0000-0002-8431-0641