Published in J Neurol Sci on January 21, 2013
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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet (2012) 2.12
Mitochondrial complex I: structure, function and pathology. J Inherit Metab Dis (2006) 2.08
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat (2013) 2.07
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Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet (2012) 1.90
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Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. Am J Hum Genet (2010) 1.69
Interlaboratory evaluation of different extraction and real-time PCR methods for detection of Coxiella burnetii DNA in serum. J Clin Microbiol (2010) 1.65
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. Am J Hum Genet (2012) 1.64
Long-term outcome in pyridoxine-dependent epilepsy. Dev Med Child Neurol (2012) 1.62
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Human mitochondrial complex I assembly is mediated by NDUFAF1. FEBS J (2005) 1.59
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MR lung volume in fetal congenital diaphragmatic hernia: logistic regression analysis--mortality and extracorporeal membrane oxygenation. Radiology (2008) 1.55
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann Neurol (2003) 1.54
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. Ann Neurol (2007) 1.53
Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly. Genes Dev (2007) 1.53
Inherited complex I deficiency is associated with faster protein diffusion in the matrix of moving mitochondria. Am J Physiol Cell Physiol (2008) 1.51
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am J Hum Genet (2012) 1.49
Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency. Am J Physiol Cell Physiol (2005) 1.49
Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clin Chem (2006) 1.46
Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene. J Hum Genet (2012) 1.46
Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children. Neurology (2002) 1.43
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet (2009) 1.40
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. Am J Hum Genet (2009) 1.39
Maturation of the autonomic nervous system: differences in heart rate variability in premature vs. term infants. J Perinat Med (2006) 1.39
Simultaneous quantitative measurement and automated analysis of mitochondrial morphology, mass, potential, and motility in living human skin fibroblasts. Cytometry A (2006) 1.38
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet (2011) 1.36
Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. Clin Chem (2003) 1.34
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain (2010) 1.34
OXPHOS mutations and neurodegeneration. EMBO J (2012) 1.33
Convergence in probiotic Lactobacillus gut-adaptive responses in humans and mice. ISME J (2010) 1.33
Human mitochondrial complex I assembly: a dynamic and versatile process. Biochim Biophys Acta (2007) 1.32
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol (2012) 1.29
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. Eur J Pediatr (2006) 1.29
Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology. Clin Chem (2006) 1.29
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain (2007) 1.27
Metabolic cutis laxa syndromes. J Inherit Metab Dis (2011) 1.25
The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White. Eur J Hum Genet (2006) 1.25
Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins. Biochem J (2006) 1.23
Arts syndrome is caused by loss-of-function mutations in PRPS1. Am J Hum Genet (2007) 1.20
Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy. Clin Chem (2006) 1.20
Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation. J Inherit Metab Dis (2012) 1.20
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J Inherit Metab Dis (2010) 1.19
Mitochondrial ATP synthase: architecture, function and pathology. J Inherit Metab Dis (2011) 1.19
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. J Inherit Metab Dis (2013) 1.18
NDUFA2 complex I mutation leads to Leigh disease. Am J Hum Genet (2008) 1.18
Superoxide production is inversely related to complex I activity in inherited complex I deficiency. Biochim Biophys Acta (2007) 1.18
In vivo quantitative near-infrared spectroscopy in skeletal muscle during incremental isometric handgrip exercise. Clin Physiol Funct Imaging (2002) 1.17
Dimerization of the cytokine receptors gp130 and LIFR analysed in single cells. J Cell Sci (2005) 1.16
Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex. J Biol Chem (2003) 1.16
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. Ann Neurol (2010) 1.16
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet (2012) 1.15
Bcl-2 prevents loss of mitochondria in CCCP-induced apoptosis. Exp Cell Res (2004) 1.15
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Eur J Hum Genet (2007) 1.14
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis (2013) 1.14