Published in Cerebellum on January 01, 2007
Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias. Cerebellum (2014) 1.03
Coenzyme Q10 effects in neurodegenerative disease. Neuropsychiatr Dis Treat (2009) 1.01
Coenzyme Q protects Caenorhabditis elegans GABA neurons from calcium-dependent degeneration. Proc Natl Acad Sci U S A (2010) 0.99
Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment. J Inherit Metab Dis (2012) 0.94
Past, present and future therapeutics for cerebellar ataxias. Curr Neuropharmacol (2010) 0.88
Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability. JIMD Rep (2013) 0.79
Reduced coenzyme Q(10) in female smokers and its association with lipid profile in a young healthy adult population. Arch Med Sci (2011) 0.78
Coenzyme q10 administration in community-acquired pneumonia in the elderly. Iran Red Crescent Med J (2014) 0.77
Ataxia. Neurol Clin (2015) 0.77
CoQ10 Deficiency May Indicate Mitochondrial Dysfunction in Cr(VI) Toxicity. Int J Mol Sci (2017) 0.75
A novel inborn error of the Coenzyme Q10 biosynthesis pathway: Cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiency. Hum Mutat (2017) 0.75
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system. Hum Mol Genet (2005) 2.72
Supercomplex assembly determines electron flux in the mitochondrial electron transport chain. Science (2013) 2.24
Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation. J Neurol Sci (2006) 1.95
Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis (2013) 1.78
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. Hum Mol Genet (2007) 1.67
Coenzyme Q deficiency triggers mitochondria degradation by mitophagy. Autophagy (2009) 1.65
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. Am J Hum Genet (2011) 1.57
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. Ann Neurol (2007) 1.53
Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency. Mov Disord (2013) 1.53
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. Dev Med Child Neurol (2013) 1.50
Hyperlactatemia in human immunodeficiency virus-infected children receiving antiretroviral treatment. Pediatr Infect Dis J (2003) 1.42
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency. FASEB J (2008) 1.41
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation. Hum Mol Genet (2007) 1.40
Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. Clin Chem (2003) 1.34
Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia. Cerebellum (2011) 1.21
Mitochondrial dysfunction and mitophagy activation in blood mononuclear cells of fibromyalgia patients: implications in the pathogenesis of the disease. Arthritis Res Ther (2010) 1.18
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients. Mol Genet Metab (2008) 1.17
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. J Med Genet (2012) 1.16
Secondary coenzyme Q10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts. FASEB J (2011) 1.16
A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency. Mol Genet Metab (2007) 1.16
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. Ann Neurol (2006) 1.12
Lifespan decrease in a Caenorhabditis elegans mutant lacking TRX-1, a thioredoxin expressed in ASJ sensory neurons. FEBS Lett (2005) 1.11
Hyperlactatemia in human immunodeficiency virus-uninfected infants who are exposed to antiretrovirals. Pediatrics (2004) 1.10
Demethoxy-Q, an intermediate of coenzyme Q biosynthesis, fails to support respiration in Saccharomyces cerevisiae and lacks antioxidant activity. J Biol Chem (2004) 1.09
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC). Hum Mutat (2009) 1.08
Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up. Mov Disord (2010) 1.08
Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy. Mol Genet Metab (2005) 1.08
Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes. Clin Biochem (2008) 1.07
The way to determine coenzyme Q. J Am Coll Cardiol (2013) 1.07
School performance in early and continuously treated phenylketonuria. Pediatr Neurol (2005) 1.05
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening. Clin Biochem (2007) 1.05
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies. BMC Genomics (2014) 1.04
Chemotherapy induces an increase in coenzyme Q10 levels in cancer cell lines. Free Radic Biol Med (2005) 1.04
HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins. J Neurosci Methods (2005) 1.03
Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis. Biochem Biophys Res Commun (2008) 1.03
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Hum Mutat (2014) 1.01
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. Mol Genet Metab (2013) 1.01
Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. Pediatrics (2013) 1.00
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis. Clin Biochem (2008) 0.98
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. Mov Disord (2012) 0.97
Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form. Mol Genet Metab (2008) 0.97
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. Mitochondrion (2010) 0.97
N-acetylcysteine, coenzyme Q10 and superoxide dismutase mimetic prevent mitochondrial cell dysfunction and cell death induced by d-galactosamine in primary culture of human hepatocytes. Chem Biol Interact (2009) 0.96
Genistein supplementation in patients affected by Sanfilippo disease. J Inherit Metab Dis (2011) 0.96
The role of ubiquinone in Caenorhabditis elegans longevity. Ageing Res Rev (2004) 0.96
Complex I-associated hydrogen peroxide production is decreased and electron transport chain enzyme activities are altered in n-3 enriched fat-1 mice. PLoS One (2010) 0.96
Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domains. Brain Struct Funct (2012) 0.95
Clinical symptoms in fibromyalgia are better associated to lipid peroxidation levels in blood mononuclear cells rather than in plasma. PLoS One (2011) 0.95
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. J Inherit Metab Dis (2011) 0.95
Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population. Clin Chim Acta (2006) 0.94
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. Arch Neurol (2005) 0.93
Specificity of coenzyme Q10 for a balanced function of respiratory chain and endogenous ubiquinone biosynthesis in human cells. Biochim Biophys Acta (2005) 0.92
The apoptotic microtubule network preserves plasma membrane integrity during the execution phase of apoptosis. Apoptosis (2007) 0.92
Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population. Dev Med Child Neurol (2005) 0.91
Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene. J Inherit Metab Dis (2010) 0.91
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. Mol Genet Metab (2007) 0.91
Silencing of ubiquinone biosynthesis genes extends life span in Caenorhabditis elegans. FASEB J (2003) 0.91
The phenotype associated with a large deletion on MECP2. Eur J Hum Genet (2012) 0.91
Coenzyme Q distribution in HL-60 human cells depends on the endomembrane system. Biochim Biophys Acta (2005) 0.91
Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up. Eur J Paediatr Neurol (2008) 0.90
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency. Eur J Hum Genet (2010) 0.90
Enhanced anti-oxidant protection of liver membranes in long-lived rats fed on a coenzyme Q10-supplemented diet. Exp Gerontol (2005) 0.90
NQR1 controls lifespan by regulating the promotion of respiratory metabolism in yeast. Aging Cell (2009) 0.90
Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects. Drug Discov Today (2012) 0.89
Cell survival from chemotherapy depends on NF-kappaB transcriptional up-regulation of coenzyme Q biosynthesis. PLoS One (2009) 0.89
Coenzyme Q supports distinct developmental processes in Caenorhabditis elegans. Mech Ageing Dev (2008) 0.89
Is coenzyme Q a key factor in aging? Mech Ageing Dev (2010) 0.88
Neuropsychiatric manifestations in late-onset urea cycle disorder patients. J Child Neurol (2009) 0.88
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease. J Inherit Metab Dis (2012) 0.88
Oral insulin-mimetic compounds that act independently of insulin. Diabetes (2007) 0.88
The influence of dietary lipid composition on liver mitochondria from mice following 1 month of calorie restriction. Biosci Rep (2012) 0.88
Mitochondrial diseases mimicking neurotransmitter defects. Mitochondrion (2008) 0.88
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Ann Neurol (2003) 0.88
Modifications of plasma proteome in long-lived rats fed on a coenzyme Q10-supplemented diet. Exp Gerontol (2007) 0.88
Autism associated to a deficiency of complexes III and IV of the mitochondrial respiratory chain. Invest Clin (2010) 0.88
Reactive oxygen species mediate the down-regulation of mitochondrial transcripts and proteins by tumour necrosis factor-alpha in L929 cells. Biochem J (2003) 0.88
Respiratory-induced coenzyme Q biosynthesis is regulated by a phosphorylation cycle of Cat5p/Coq7p. Biochem J (2011) 0.88
Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects. Arch Neurol (2011) 0.88
Hydrogen peroxide- and cell-density-regulated expression of NADH-cytochrome b5 reductase in HeLa cells. J Bioenerg Biomembr (2003) 0.87
The influence of dietary lipid composition on skeletal muscle mitochondria from mice following 1 month of calorie restriction. J Gerontol A Biol Sci Med Sci (2012) 0.87
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. Pediatr Res (2002) 0.87
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation. J Inherit Metab Dis (2010) 0.87