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- Journal Article
- A1
- open access
Neonatal lactic acidosis explained by LARS2 defect
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Mammalian target of rapamycin inhibition enhances delivery and activity of antisense oligonucleotides in uveal melanoma cells
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- Journal Article
- A2
- open access
Clinical, biochemical, and histopathological diagnosis of Egyptian paediatric patients with suspected mitochondrial diseases : a hospital-based study
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- Journal Article
- A1
- open access
Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)
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- Miscellaneous
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The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival (Sept, 10.1038/s41388-021-02006-x, 2021)
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- Journal Article
- A1
- open access
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
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- Journal Article
- A1
- open access
The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival
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- Journal Article
- A1
- open access
Urine lactate concentration as a non-invasive screener for metabolic abnormalities : findings in children with autism spectrum disorder and regression
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- Conference Paper
- C3
- open access
Expanded phenotyping by microscopic imaging
(2022) JOURNAL OF INHERITED METABOLIC DISEASE. In Journal of Inherited Metabolic Disease 45(Supplement 1). p.69-69 -
- Journal Article
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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy
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Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features
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- Journal Article
- A1
- open access
Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function
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Nanoscopic X-ray imaging and quantification of the iron cellular architecture within single fibroblasts of Friedreich's ataxia patients
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- Journal Article
- A1
- open access
Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain
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- Journal Article
- A2
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Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene
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- Conference Paper
- C3
- open access
mTor inhibitor GDC-0349 improves ASO induced SAMMSON knock down resulting in enhanced anti-tumor efficacy in uveal melanoma
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- Conference Paper
- C3
- open access
mTor inhibitor GDC-0349 improves ASO induced SAMMSON knock down resulting in enhanced anti-tumor efficacy in uveal melanoma
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Germline nuclear transfer in mice may rescue poor embryo development associated with advanced maternal age and early embryo arrest
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- Journal Article
- A1
- open access
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
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- Journal Article
- A1
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A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation
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- Conference Paper
- C3
- open access
The use of pronuclear transfer to overcome infertility disorders in mice
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- Journal Article
- A1
- open access
Characteristics, early development and outcome of parent-reported regression in autism spectrum disorder
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- Journal Article
- A1
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Research activity and capability in the European reference network MetabERN
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Recurrent arterial ischemic stroke with good response to mycophenolate mofetil
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- Conference Paper
- C3
- open access
Therapeutic applications of SAMMSON lncRNA inhibition in uveal melanoma
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Comparative analysis of different nuclear transfer techniques to prevent the transmission of mitochondrial DNA variants
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Comparative analysis of different nuclear transfer techniques to prevent the transmission of mitochondrial DNA variants
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- Conference Paper
- C3
- open access
Therapeutic applications of SAMMSON lncRNA inhibition in uveal melanoma
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- Conference Paper
- C3
- open access
Therapeutic applications of SAMMSON lncRNA inhibition in uveal melanoma
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New mitochondrial diagnostic testing in fibroblasts, a minimally invasive tissue, identifies sensitive functional testing methods for complex I deficient primary mitochondrial disorders
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Complex III deficiency due to a homozygous mutation in the nuclear encoded subunit UQCRQ
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The clinical heterogeneity of the NARS2 c.822G>C mutation clearly illustrated in two siblings : epilepsy and myopathy
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Cyclic vomiting in a subject with homoplasmic m.14674T>C alteration
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- Journal Article
- A1
- open access
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency
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Tigecycline-induced inhibition of mitochondrial DNA translation may cause lethal mitochondrial dysfunction in humans
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IRF2BPL is associated with neurological phenotypes
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- Journal Article
- A1
- open access
Natural history of vanishing white matter
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- Journal Article
- A1
- open access
Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway
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Therapeutic applications of SAMMSON lncRNA inhibition in uveal melanoma
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- Conference Paper
- C3
- open access
Therapeutic applications of SAMMSON lncRNA inhibition in uveal melanoma
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- Journal Article
- A1
- open access
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT
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- Journal Article
- A1
- open access
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective?
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Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3
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- Journal Article
- A1
- open access
Nanoscopic X-ray fluorescence imaging and quantification of intracellular key-elements in cryofrozen Friedreich's ataxia fibroblasts
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Near-infrared spectroscopy screening to allow detection of pathogenic mitochondrial DNA variants in individuals with unexplained abnormal fatigue : a preliminary study
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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
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Multiple sclerosis in Belgian children : a multicentre retrospective study
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- Journal Article
- A1
- open access
A critical assessment of the therapeutic potential of resveratrol supplements for treating mitochondrial disorders
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Nusinersen versus sham control in infantile-onset spinal muscular atrophy
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- Journal Article
- A1
- open access
New insights into the phenotype of FARS2 deficiency
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- Conference Paper
- C3
- open access
Therapeutic applications of SAMMSON lncRNA inhibition in uveal melanoma
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- Journal Article
- A1
- open access
POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism
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Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy
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Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy
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Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy
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Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses
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Mild early epileptic encephalopathy evolving to spastic paraplegia, neurogenic bladder and generalized slow colon transit in an 18-year old patient with pathogenic mutations in FARS2
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Pathogenic mutations in FARS2 in a patient with motor regression and epilepsy as first signs, later evolving to spastic paraplegia associated with autonomic disturbances
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Pathogenic mutations in TMEM126b, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families
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Database crossing allows better understanding of neuromuscular disorders epidemiology: the Belgian example
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Subcomplexes of complex V in a patient with Perrault syndrome due to pathogenic mutations in C10orf2
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RC3H1 mutation with increased ICOS expression causes an autoinflammatory syndrome
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How robust is ACTIVLIM for the follow-up of activity limitations in patients with neuromuscular diseases?
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Clinical, biochemical and genetic spectrum of mitochondrial disorders in Egyptian children : a study of 19 cases
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- Journal Article
- A1
- open access
Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype
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ALG1-CDG: clinical and molecular characterization of 39 unreported patients
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Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: report on nine patients
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STXBP1 encephalopathy : a neurodevelopmental disorder including epilepsy
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Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin
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Ultrastructural mitochondrial alterations in equine myopathies of unknown origin
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- Journal Article
- A1
- open access
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
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Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy
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Multiple symmetrical lipomatosis: an uncommon presentation of a mitochondrial disease
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- Journal Article
- A1
- open access
Cellular heterogeneity in the level of mtDNA heteroplasmy in mouse embryonic stem cells
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Clinical, biochemical and genetic spectrum of mitochondrial disorders in Egyptian children : a study of 17 cases
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- Journal Article
- A1
- open access
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
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- Journal Article
- A1
- open access
Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR)
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Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)
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Forearm deoxyhemoglobin and deoxymyoglobin (deoxy[Hb + Mb]) measured by near-infrared spectroscopy (NIRS) using a handgrip test in mitochondrial myopathy
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Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions
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Possible pathogenic mechanism of propofol infusion syndrome involves coenzyme Q
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TMEM70 deficiency: long-term outcome of 48 patients
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A new pathogenic mutation in the iron-sulfur cluster assembly gene IBA57 causes impaired protein function leading to massive early leukoencephalopathy
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Lipomas : an unexpected phenotype of mitochondrial DNA mutations
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Mitochondria in peroxisome-deficient hepatocytes exhibit impaired respiration, depleted DNA, and PGC-1α independent proliferation
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Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
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Screening for mitochondrial dysfunction in chronic fatigue syndrome using Near Infrared Spectroscopy: a preliminary study
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Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects
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Assessment of nuclear transfer techniques to prevent the transmission of heritable mitochondrial disorders without compromising embryonic development competence in mice
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Mutation-free baby born from a mitochondrial encephalopathy, lactic acidosis and stroke-like syndrome carrier after blastocyst trophectoderm preimplantation genetic diagnosis
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Ullrich congenital muscular dystrophy: a new cellular study on cultured skin fibroblasts
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- Conference Paper
- C3
- open access
Assessment of cellular heterogeneity in the level of mitochondrial DNA heteroplasmy in mouse embryonic stem cells
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Two siblings with myopathy, mild mental retardation and combined OXPHOS deficiencies caused by a mutation in the gene encoding asparaginyl tRNA synthetase, NARS2
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Mutation-free baby born from a mitochondrial encephalopathy, lactic acidosis and stroke-like episodes carrier after trophectoderm pre-implantation genetic diagnosis
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- Journal Article
- A1
- open access
A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome
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Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene
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Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
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- Journal Article
- A2
- open access
Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease
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Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication
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Forearm muscle oxygenation responses during and following arterial occlusion in patients with mitochondrial myopathy
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A systematic analysis of the suitability of preimplantation genetic diagnosis for mitochondrial diseases in a heteroplasmic mitochondrial mouse model
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Did lightning strike twice?
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Ultrastructural mitochondrial alterations in equine myopathies of unknown origin
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Unraveling the mechanisms behind the enhanced MTT conversion by irradiated breast cancer cells
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- Journal Article
- A1
- open access
Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy
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Expanding the spectrum of MERS type 2 lesions, a particular form of encephalitis
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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
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- Journal Article
- A1
- open access
Morphological spectrum and clinical features of myopathies with tubular aggregates
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A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum
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Hypocretin-1 deficiency in a girl with ROHHAD syndrome
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Heterogenity in the level of mitochondrial DNA heteroplasmy increases during progressive passaging of mouse embryonic stem cells
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Succinyl-CoA ligase deficiency : report on the first patient resulting from a combined defect in SUGL1 an SUGL2 genes
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A novel compound heterozygous mutation in NFU1 as cause of iron-sulfur cluster biosynthesis
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Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)
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A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms
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A homozygous mutation in IBA57 involved in intramitochondrial iron-sulfur cluster synthesis causes severe encephalopathy and mypathy in two neonates
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Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis
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Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients
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Fatal outcome of iron-sulfur cluster scaffold NFU1 gene mutations in a neonatal patient
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Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal myopathy and encephalopathy
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Polymerase gamma deficiency (POLG): clinical course in a child with two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy
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Acetazolamide for severe apnea in Pitt-Hopkins syndrome
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Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome
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X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation
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Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms
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Cyclic vomiting syndrome: case report and short review of the literature
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Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients
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Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for detection of oxidative phosphorylation defects
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- Conference Paper
- C3
- open access
Mitochondrial cardiotoxicity of a prototype HCV NS3-protease inhibitor is characterized by a specific electrocardiographic signature in mice
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A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome
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Poor correlation between polar bodies and blastomere mutation load in a patient with m.3243A>G tRNALeu(UUR) point mutation
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Reliability of near infrared spectroscopy (NIRS) for measuring forearm oxygenation during incremental handgrip exercise
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Forearm deoxygenation measured by Nirs during a new handgrip exercise protocol in patients with mitochondrial myopathy
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Proteomic analysis of cultured skin fibroblasts from UCMD patients reveals the involvement of two new cellular pathways
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JC-1-based fluorescence to evaluate oxidative phosphorylation defects generates both qualitative and quantitative information
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Genomic microarrays: challenges and opportunities: five years experience in a diagnostic setting
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Polar body mutation load analysis in a patient with A3243G tRNALeu(UUR) point mutation
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Anti-NMDA-receptor encephalitis in a 3 year old patient with chromosome 6p21.32 microdeletion including the HLA cluster
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Palatal insufficiency as isolated sign of GQ1b antibody syndrome
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Complex III staining in blue native polyacrylamide gels
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Hashimoto encephalopathy and antibodies against dimethylargininase-1: a rare cause of cognitive decline in a pediatric Down's syndrome patient
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Analysis of the giant axonal neuropathy fibroblasts proteome
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ATP synthase deficiency: a diagnostic strategy for not such an uncommon cause of OXPHOS dysfunction
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- Journal Article
- A1
- open access
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
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Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia
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Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model
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Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T > C
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Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene
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Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation
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Novel TMEM67 mutations and genotype-phenotype correlates in Meckelin-related ciliopathies
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Mutations in PEX10 are a cause of autosomal recessive ataxia
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Perisylvian polymicrogyria, infantile spasms and arthrogryposis : the severe end of the spectrum of congenital bilateral perisylvian polymicrogyria
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Deleterious mutations in RRM2B, a gene responsible for maintenance of mtDNA, result in severe reduction of mtDNA content in skeletal muscle
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Mutations in TMEM70, a gene coding for an assembly factor of complex V, can cause a severe encephalocardiomyopathy in the neonatal period as wel as mild non-progressive encephalopathy in adolescence
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Treatment of scot deficiency with modified corn starch (Glycosade)
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Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations
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Mutations in TMEM70 causes severe encephalocardiomyopathy as well as mild encephalopathy
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Deleterious mutations in RRM2B result in severe reduction of mtDNA content in skeletal muscle
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Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to the m.14487T>C mutation in ND6
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Expanding CEP290 mutational spectrum in ciliopathies
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Mutations in PEX10 Are a Cause of Autosomal Recessive Spinocerebellar Ataxia
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- Journal Article
- A2
- open access
Mitochondrial mosaics in the liver of 3 infants with mtDNA defects
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Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA
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Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects
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Vagus nerve stimulation for refractory status epilepticus
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Histochemical methods for the diagnosis of mitochondrial diseases
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Abdominal pain and vomiting as first sign of mitochondrial disease
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Childhood narcolepsy with partial facial cataplexy: a diagnostic dilemma
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Lactic Acidosis in a Newborn With Adrenal Calcifications
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Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience
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Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function
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PATHOPHYSIOLOGY OF PROPOFOL INFUSION SYNDROME (PRIS)
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ACUTE RHABDOMYOLYSIS IN YOUNG CHILDREN DUE TO MUTATIONS IN THE LPIN1 GENE
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MECHANISM OF LACTIC ACIDOSIS IN PATIENTS WITH THE PROPOFOL INFUSION SYNDROME (PRIS)
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ORGANIC ACIDURIA AND LATE ONSET OPTIC ATROPHY
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MITOCHONDRIAL ABNORMALITIES IN A NEWBORN WITH LACTIC ACIDOSIS AND ADRENAL CALCIFICATIONS
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Abnormal congenital disorders of glycosylation screening test leading to the diagnosis of Tay Sachs
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Sensory contributions to balance in boys with developmental coordination disorder
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Hippocampal atrophy and developmental regression as first sign of linear scleroderma "en coup de sabre"
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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
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S100B Expression in forensic brain trauma fatalities: a valuable tool?
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Role of BN-page in the diagnosis of mitochondrial DNA depletion
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Immunostaining technniques in patients with mtDNA depletion
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NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism
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Mitochondrial proliferation and abnormalities of the inner mitochondrial membrane in peroxisome deficient hepatocytes
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Complement factor B deficiency associated with recurrent asceptic meningitis
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N-acetylamino aciduria: A benign biochemical finding!
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Detection of complex III deficient patients using a novel activity staining method in the BN-page gel
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Limbic encephalitis as presentation of a SAP deficiency
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Visualizing oxidative phosphorylation defects in skeletal muscle of patients with mitochondrial tRNA gene mutations using immunohistochemistry
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Immunohistochemical studies of oxidative phosphorylation in skeletal muscle of patients with mitochondrial tRNA gene mutations
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A new family with the mitochondrial tRNAGLU gene mutation m.14709T > C presenting with hydrops fetalis
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Infantile presentation of the mitochondrial A8344G mutation.
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The presence of complex V subcomplexes in patients with defective intramitochondrial protein translation.
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Mitochondrial aspartyl-tRNA synthetase deficiency causes "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
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Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q(10) deficiency
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The evaluation of complex III activity using a novel in-gel activity staining method
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The aerobic forearm exercise test, a non-invasive tool to screen for mitochondrial disorders
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ATP synthase subcomplexes are the hallmark of a defective intramitochondrial protein translation
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The presence of complex V subcomplexes in patients with defective intramitochondrial protein translation
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Vagus nerve stimulation for refractory status epilepticus
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Ethylmalonic encephalopathy: Clinical and biochemical observations
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Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy
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Follow-up of a patient treated with vagus nerve stimulation for refractory status epilepticus
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Clinical and molecular phenotype of Aicardi-Goutieres syndrome
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Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
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Adaptations to task constraints in catching by boys with DCD
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Disorders of pyruvate metabolism and the tricarboxylic acid cycle
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Aminoacylase I deficiency: a new inborn error of metabolism located in the protein degradation pathway of N-acetylated proeteins
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Aanhoudende geïsoleerde transaminasenverhoging bij asymptomatische kinderen: verdenk ook de spieren
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A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure
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Visual contribution to walking in children with Developmental Coordination Disorder
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Differences in gait between children with and without developmental coordination disorder
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Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects
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Complex V subcomplexes detected by BN PAGE are a sign of a defective intramitochondrial protein translation
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A systems biology strategy reveals biological pathways and plasma biomarker candidates for potentially toxic statin-induced changes in muscle
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Linezolid-induced inhibition of mitochondrial protein synthesis
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A novel mitochondrial tRNA Asn mutation causing multi-organ failure
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Delayed neuromotor development combined with albinism and increased very long chain fatty acids.
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Diagnostics in mitochondrial diseases: the need of collaboration between clinician and research laboratories.
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Complex V subcomplexes suggestive of a defective intramitochondrial protein translation.
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Complex V subcomplexes suggestive of a defective intramitochondrial protein translation
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Deficiency of mitochondrial ATP synthase of nuclear genetic origin
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Butylated hydroxyanisole is more than a reactive oxygen species scavenger
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Limbic encephalitis as presentation of a SAP deficiency
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Linezolid-induced inhibition of mitochondrial protein synthesis
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Streptococcus cristatus isolated from a resected heart valve and blood cultures: Case reports and application of phenotypic and genotypic techniques for identification
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Event rate and event-related potentials in ADHD
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Mitochondrial mosaics in the liver of patients with Pearson and Alpers-Huttenlocher syndromes
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MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
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Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: The first case of aminoacylase I deficiency
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Steroids in intractable childhood epilepsy: clinical experience and review of the literature
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Nondenaturing polyacrylamide gel electrophoresis as a method for studying protein interactions: applications in the analysis of mitochondrial OXPHOS complexes
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is livertransplantation indicated in metabolic disorders with neurological involvement? two case reports
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Sensory contributions to postural control in children with DCD
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Sensory contributions to postural control in children with DCD
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Let's jump into DCD!
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How do children with DCD walk?
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Immunocytochemical staining of cultured fibroblasts is a valuable first line screening test for oxidative phosphorylation defects.
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Diagnostics in mitochondrial diseases: The need of collaboration between clinician and research laboratorie.
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High dose statins and skeletal muscle metabolism in man: A randomized controlled trial.
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Denaturating high performance liquid chromatography, a rapid mutation screening technique for the entire mitochondrial genome.
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Isolated defects of mitochondrial ATP synthase: overview of 15 cases.
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Immunocytochemiscal staining of cultured fibroblasts is available first line screening test for oxidative phosphorylation.
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High dose statins and skeletal muscle metabolism in man: A randomized controlled trial.
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An infant with large amounts of several N-acetylated amino acids in the urine has aminoacylase 1 deficiency.
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Neuroradiologic findings in a young patient with characteristics of Sturge-Weber syndrome and Mippel-Mrenaunay syndrome
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A mitochondrial tRNA Aspartate mutation causing isolated mitochondrial myopathy
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Aminoacylase I deficiency: A novel inborn error of metabolism