Published in Pediatr Res on May 01, 1996
Gene expression analysis in mitochondria from chagasic mice: alterations in specific metabolic pathways. Biochem J (2004) 1.21
Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders. J Bioenerg Biomembr (1998) 1.02
The long and winding road to the mitochondrial pyruvate carrier. Cancer Metab (2013) 0.94
Neurologic dysfunction and male infertility in Drosophila porin mutants: a new model for mitochondrial dysfunction and disease. J Biol Chem (2010) 0.93
Mitochondrial pyruvate transport: a historical perspective and future research directions. Biochem J (2015) 0.85
Voltage-dependent anion channel 2 of Arabidopsis thaliana (AtVDAC2) is involved in ABA-mediated early seedling development. Int J Mol Sci (2009) 0.81
VDAC contributes to mRNA levels in Saccharomyces cerevisiae cells by the intracellular reduction/oxidation state dependent and independent mechanisms. J Bioenerg Biomembr (2010) 0.76
VDAC3 As a Potential Marker of Mitochondrial Status Is Involved in Cancer and Pathology. Front Oncol (2016) 0.75
Regulation of VDAC trafficking modulates cell death. Cell Death Discov (2016) 0.75
Mitochondrial VDAC1: A Key Gatekeeper as Potential Therapeutic Target. Front Physiol (2017) 0.75
A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet (1995) 17.27
Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet (1995) 5.58
A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet (1998) 4.96
Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet (1992) 3.76
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet (1996) 2.68
Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease. N Engl J Med (1985) 2.49
[Primary structure of class II human histocompatibility antigens. 1st communication. Amino acid sequence of the N-terminal 198 residues of the beta chain of a HLA-Dw2,2;DR2,2-alloantigen (author's transl)]. Hoppe Seylers Z Physiol Chem (1981) 2.39
Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet (1995) 2.35
Abnormalities of Gq-mediated cell signaling in Bartter and Gitelman syndromes. Kidney Int (2001) 2.19
Skeletal muscles of mice deficient in muscle creatine kinase lack burst activity. Cell (1993) 2.04
Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. Kidney Int (2007) 1.93
Complex regional pain syndrome type I (RSD): pathology of skeletal muscle and peripheral nerve. Neurology (1998) 1.86
Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? Metabolism (1994) 1.81
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain (2000) 1.75
Immotile sperm and infertility in mice lacking mitochondrial voltage-dependent anion channel type 3. J Biol Chem (2001) 1.72
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat (2000) 1.72
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann Neurol (1999) 1.72
Reduction of anionic sites in the glomerular basement membrane by heparanase does not lead to proteinuria. Kidney Int (2007) 1.70
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol (1993) 1.70
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet (1994) 1.69
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. Kidney Int (1998) 1.66
Congenital supratentorial arachnoidal and giant cysts in children: a clinical study with arguments for a conservative approach. Childs Nerv Syst (1997) 1.64
MR of the caudal regression syndrome: embryologic implications. AJNR Am J Neuroradiol (1994) 1.63
Conditionally immortalized human glomerular endothelial cells expressing fenestrations in response to VEGF. Kidney Int (2006) 1.60
Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis (2009) 1.58
Genetic characteristics of myoadenylate deaminase deficiency. Ann Neurol (1998) 1.57
Anti-signal recognition particle autoantibodies: marker of a necrotising myopathy. Ann Rheum Dis (2006) 1.54
Altered Ca2+ responses in muscles with combined mitochondrial and cytosolic creatine kinase deficiencies. Cell (1997) 1.52
Effects of verocytotoxin-1 on nonadherent human monocytes: binding characteristics, protein synthesis, and induction of cytokine release. Blood (1996) 1.51
Proton spectroscopy in five patients with Leigh's disease and mitochondrial enzyme deficiency. Dev Med Child Neurol (1993) 1.49
Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. Am J Hum Genet (1998) 1.49
The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. Am J Hum Genet (1999) 1.48
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet (1999) 1.48
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol (2000) 1.47
Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. Eur J Pediatr (1984) 1.47
A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q. Eur J Pediatr (1986) 1.46
Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. Biochem Biophys Res Commun (2000) 1.46
Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? Neurology (2008) 1.45
Folate, homocysteine and neural tube defects: an overview. Exp Biol Med (Maywood) (2001) 1.45
Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency. Neuropediatrics (2000) 1.44
Glutaric aciduria type II: report on a previously undescribed metabolic disorder. Clin Chim Acta (1976) 1.44
Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. J Clin Invest (1996) 1.42
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. Eur J Hum Genet (1999) 1.42
A case of macrocephaly, hydrocephalus, megacerebellum, white matter abnormalities and Rosenthal fibres. Dev Med Child Neurol (1993) 1.41
Familial adult-onset muscular dystrophy with leukoencephalopathy. Ann Neurol (1992) 1.40
Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain. Eur J Pediatr (1995) 1.39
Successful treatment of pure myopathy, associated with complex I deficiency, with riboflavin and carnitine. Arch Neurol (1991) 1.39
Proton MR spectroscopy of the lumbar spine in patients with glycogen storage disease type Ib. J Magn Reson Imaging (2001) 1.37
Molecular beacons: a new approach for semiautomated mutation analysis. Clin Chem (1998) 1.37
Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit. Nat Genet (2000) 1.35
Effects of TNF alpha on verocytotoxin cytotoxicity in purified human glomerular microvascular endothelial cells. Kidney Int (1997) 1.35
Thermolabile methylenetetrahydrofolate reductase in coronary artery disease. Circulation (1997) 1.35
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis (2009) 1.30
A new era in the diagnosis and treatment of atypical haemolytic uraemic syndrome. Neth J Med (2012) 1.30
Hyperhomocysteinaemia and recurrent spontaneous abortion or abruptio placentae. Lancet (1992) 1.27
A second common variant in the methylenetetrahydrofolate reductase (MTHFR) gene and its relationship to MTHFR enzyme activity, homocysteine, and cardiovascular disease risk. J Mol Med (Berl) (2001) 1.26
Analysis by sequential immunoprecipitations of the specificities of the monoclonal antibodies TU22,34,35,36,37,39,43,58 and YD1/63.HLK directed against human HLA class II antigens. Immunobiology (1986) 1.24
Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities. Ann Neurol (1997) 1.23
Prevalence of coeliac disease in diabetic children and adolescents. A multicentre study. Eur J Pediatr (1988) 1.22
Cell loss and shrinkage in the nucleus basalis Meynert complex in Alzheimer's disease. Neurobiol Aging (1990) 1.22
Diagnostic value of MHC class I staining in idiopathic inflammatory myopathies. J Neurol Neurosurg Psychiatry (2004) 1.21
Neural-tube defects and derangement of homocysteine metabolism. N Engl J Med (1991) 1.21
Altered folate and vitamin B12 metabolism in families with spina bifida offspring. QJM (1997) 1.21
Agrin is a major heparan sulfate proteoglycan in the human glomerular basement membrane. J Histochem Cytochem (1998) 1.20
Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review. Eur J Pediatr (2009) 1.19
A monoclonal antibody against GBM heparan sulfate induces an acute selective proteinuria in rats. Kidney Int (1992) 1.19
Is mutated serine hydroxymethyltransferase (SHMT) involved in the etiology of neural tube defects? Mol Genet Metab (2001) 1.18
Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis. Brain (1999) 1.17
Monocyte chemoattractant protein-1 and interleukin-8 levels in urine and serum of patents with hemolytic uremic syndrome. Pediatr Res (1998) 1.17
Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts. Hum Genet (1985) 1.17
Decreased methylene tetrahydrofolate reductase activity due to the 677C-->T mutation in families with spina bifida offspring. J Mol Med (Berl) (1996) 1.17
Hyperhomocysteinemia: a risk factor in women with unexplained recurrent early pregnancy loss. Fertil Steril (1993) 1.17
Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency. Neurology (1988) 1.15
Treatment of mild hyperhomocysteinemia in vascular disease patients. Arterioscler Thromb (1994) 1.14
Cross-reactivity of monoclonal anti-DNA antibodies with heparan sulfate is mediated via bound DNA/histone complexes. J Autoimmun (1990) 1.14
Unique efficiency of methionine metabolism in premenopausal women may protect against vascular disease in the reproductive years. J Clin Invest (1983) 1.13
Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress. Eur J Clin Invest (2004) 1.13
DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population. Hum Genet (1989) 1.12
Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature. Clin Neurol Neurosurg (1987) 1.12
Differential investigation of the capacity of succinate oxidation in human skeletal muscle. Clin Chim Acta (1985) 1.11
A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome. Ann Neurol (1999) 1.10
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis. Ann Neurol (2000) 1.09
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. Am J Hum Genet (1998) 1.09
Some practical aspects of providing a diagnostic service for respiratory chain defects. Ann Clin Biochem (2003) 1.09
Standardized method for high-resolution 1H-NMR of cerebrospinal fluid. Clin Chem (1995) 1.08
Primary structure of human class II histocompatibility antigens 3rd communication. Amino acid sequence comparison between DR and DC subclass antigens derived from a lymphoblastoid B cell line homozygous at the HLA loci (HLA-A3,3; B7,7; Dw2,2; DR2,2: MT1,1; Dc1,1: MB1,1). Hoppe Seylers Z Physiol Chem (1983) 1.08
cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. Biochem Biophys Res Commun (1998) 1.08
Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns. J Biol Chem (2000) 1.08
Investigation of mitochondrial metabolism in small human skeletal muscle biopsy specimens. Improvement of preparation procedure. Clin Chim Acta (1985) 1.08
Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts. Clin Chim Acta (1973) 1.07