Published in J Inherit Metab Dis on January 25, 2013
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis (2013) 1.14
TMEM70 deficiency: long-term outcome of 48 patients. J Inherit Metab Dis (2014) 0.99
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. J Inherit Metab Dis (2015) 0.96
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet (2015) 0.96
Spectrum of combined respiratory chain defects. J Inherit Metab Dis (2015) 0.93
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet (2015) 0.86
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. J Inherit Metab Dis (2014) 0.85
Metabolic biology of 3-methylglutaconic acid-uria: a new perspective. J Inherit Metab Dis (2014) 0.81
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation? JIMD Rep (2016) 0.79
Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit. Eur J Hum Genet (2016) 0.78
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect. JIMD Rep (2014) 0.76
On the origin of 3-methylglutaconic acid in disorders of mitochondrial energy metabolism. J Inherit Metab Dis (2016) 0.76
Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria. Mol Genet Metab Rep (2014) 0.75
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. J Inherit Metab Dis (2016) 0.75
Transient neonatal renal failure and massive polyuria in MEGDEL syndrome. Mol Genet Metab Rep (2016) 0.75
Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene. JIMD Rep (2015) 0.75
Presentation and Diagnostic Evaluation of Mitochondrial Disease. Pediatr Clin North Am (2017) 0.75
ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment. Biomed Res Int (2015) 0.75
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Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins. Biochem J (2006) 1.23
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3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome. Pediatr Res (1995) 1.13
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3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. J Pediatr (1992) 1.04
Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria. Pediatr Res (2009) 1.04
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. NMR Biomed (2006) 1.01
Mitochondrial dysfunction in a neural cell model of spinal muscular atrophy. J Neurosci Res (2009) 0.99
Mutation in dystrophin-encoding gene affects energy metabolism in mouse myoblasts. Biochem Biophys Res Commun (2009) 0.97
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. Mitochondrion (2009) 0.94
A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3. Development (2010) 0.94
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. Hum Mutat (2012) 0.88
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. Neurology (2010) 0.86
3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib. J Inherit Metab Dis (2003) 0.82
Organic aciduria in Pearson syndrome. Eur J Pediatr (1991) 0.82
Pearson marrow-pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA. Am J Med Genet (2002) 0.82
3-Methylglutaconic aciduria in a patient with Pearson syndrome. Eur J Pediatr (1993) 0.82
Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA. J Pediatr Hematol Oncol (2003) 0.79
Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80
Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. Am J Hum Genet (2002) 4.06
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet (2007) 3.43
Monocarboxylate transporter 1 deficiency and ketone utilization. N Engl J Med (2014) 3.36
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics (2003) 3.24
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet (2003) 3.23
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet (2006) 3.17
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet (2004) 2.99
Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts. Clin Chem (2007) 2.82
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. Science (2011) 2.78
Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell (2010) 2.49
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurol (2011) 2.36
Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts. Ann Neurol (2008) 2.34
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics (2004) 2.33
Monogenic mitochondrial disorders. N Engl J Med (2012) 2.30
Mammalian mitochondrial complex I: biogenesis, regulation, and reactive oxygen species generation. Antioxid Redox Signal (2010) 2.26
Overexpression of Akt converts radial growth melanoma to vertical growth melanoma. J Clin Invest (2007) 2.22
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain (2010) 2.21
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N Engl J Med (2004) 2.17
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy. Brain (2014) 2.14
A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. J Med Genet (2013) 2.12
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
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. Am J Hum Genet (2010) 2.07
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat (2013) 2.07
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet (2008) 2.06
Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies. Mol Genet Metab (2010) 2.06
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet (2005) 2.05
Molecular characterization of newborn glaucoma including a distinct aniridic phenotype. Ophthalmic Genet (2011) 2.02
Contribution of various metabolites to the "unmeasured" anions in critically ill patients with metabolic acidosis. Crit Care Med (2008) 1.99
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet (2006) 1.97
Treatment for mitochondrial disorders. Cochrane Database Syst Rev (2012) 1.94
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet (2012) 1.93
Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics. Eur J Hum Genet (2013) 1.93
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet (2012) 1.90
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nat Genet (2012) 1.90
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain (2007) 1.85
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet (2009) 1.83
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet (2009) 1.83
Inhibition of complex I of the electron transport chain causes O2-. -mediated mitochondrial outgrowth. Am J Physiol Cell Physiol (2005) 1.82
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. J Med Genet (2011) 1.81
Reconstructing the evolution of the mitochondrial ribosomal proteome. Nucleic Acids Res (2007) 1.79
Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat (2012) 1.74
Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet (2009) 1.73
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am J Hum Genet (2009) 1.73
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis (2014) 1.73
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Am J Hum Genet (2004) 1.72
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain (2009) 1.71
Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency. Hum Mol Genet (2004) 1.71
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. Am J Hum Genet (2010) 1.69
Mitochondrial DNA depletion syndromes--many genes, common mechanisms. Neuromuscul Disord (2010) 1.68
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat (2007) 1.68
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
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science (2010) 1.63
Long-term outcome in pyridoxine-dependent epilepsy. Dev Med Child Neurol (2012) 1.62
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. Am J Hum Genet (2013) 1.61
Novel CENPJ mutation causes Seckel syndrome. J Med Genet (2010) 1.61
The intestinal LABs. Antonie Van Leeuwenhoek (2002) 1.60
Human mitochondrial complex I assembly is mediated by NDUFAF1. FEBS J (2005) 1.59
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet (2011) 1.58
Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders. Eur J Hum Genet (2011) 1.57
Retracted In vivo degradation of heparan sulfates in the glomerular basement membrane does not result in proteinuria. J Am Soc Nephrol (2007) 1.57
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet (2011) 1.57
Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits. J Biol Chem (2007) 1.56
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome. Anal Biochem (2009) 1.56
High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet (2004) 1.55
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann Neurol (2003) 1.54
A novel X-linked disorder with developmental delay and autistic features. Ann Neurol (2011) 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
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. Hum Mutat (2008) 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 DYNC1H1 cause severe intellectual disability with neuronal migration defects. J Med Genet (2012) 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
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res (2012) 1.47
Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clin Chem (2006) 1.46
A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. J Clin Immunol (2013) 1.46
Homocysteine determinants and the evidence to what extent homocysteine determines the risk of coronary heart disease. Pharmacol Rev (2002) 1.45
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Hum Mol Genet (2012) 1.45