Published in Ann Neurol on October 01, 2005
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Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice. Hum Mol Genet (2008) 1.33
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Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity. Methods Mol Biol (2012) 0.77
Adult-onset leukodystrophies from respiratory chain disorders: do they exist? J Neurol (2013) 0.77
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. Neuroradiol J (2013) 0.76
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy. J Neurol (2011) 0.76
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Elimination diet effectively treats eosinophilic esophagitis in adults; food reintroduction identifies causative factors. Gastroenterology (2012) 3.29
Histopathologic variability and endoscopic correlates in adults with eosinophilic esophagitis. Gastrointest Endosc (2006) 2.89
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet (2005) 2.73
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet (2006) 2.66
Human mitochondrial DNA: roles of inherited and somatic mutations. Nat Rev Genet (2012) 2.59
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurol (2011) 2.36
Mechanical properties of the esophagus in eosinophilic esophagitis. Gastroenterology (2010) 2.10
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet (2008) 2.04
Induced hypothermia is protective in a rat model of pneumococcal pneumonia associated with increased adenosine triphosphate availability and turnover*. Crit Care Med (2012) 2.02
Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants. Nature (2012) 1.95
Trigeminal autonomic cephalgias due to structural lesions: a review of 31 cases. Arch Neurol (2007) 1.95
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. Arch Neurol (2012) 1.77
Esophageal distensibility as a measure of disease severity in patients with eosinophilic esophagitis. Clin Gastroenterol Hepatol (2013) 1.75
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain (2007) 1.73
Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript. Free Radic Biol Med (2006) 1.73
The clinical maze of mitochondrial neurology. Nat Rev Neurol (2013) 1.72
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet (2009) 1.71
Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage. Proc Natl Acad Sci U S A (2005) 1.68
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. Hum Mol Genet (2007) 1.67
Esophagogastric junction distensibility assessed with an endoscopic functional luminal imaging probe (EndoFLIP). Gastrointest Endosc (2010) 1.64
Pulsed high-dose dexamethasone versus standard prednisolone treatment for chronic inflammatory demyelinating polyradiculoneuropathy (PREDICT study): a double-blind, randomised, controlled trial. Lancet Neurol (2010) 1.63
Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. J Clin Invest (2003) 1.60
A 12-year follow-up in sporadic inclusion body myositis: an end stage with major disabilities. Brain (2011) 1.57
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J Am Coll Cardiol (2003) 1.57
Esophageal dilation in eosinophilic esophagitis: effectiveness, safety, and impact on the underlying inflammation. Am J Gastroenterol (2009) 1.56
Novel cell lines derived from adult human ventricular cardiomyocytes. J Mol Cell Cardiol (2005) 1.54
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am J Hum Genet (2006) 1.53
Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem (2001) 1.52
Cord blood Clara cell protein CC16 predicts the development of bronchopulmonary dysplasia. Eur J Pediatr (2008) 1.51
Histopathologic variability in children with eosinophilic esophagitis. Am J Gastroenterol (2009) 1.50
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain (2011) 1.46
Mitochondrial encephalomyopathies: an update. Neuromuscul Disord (2005) 1.45
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency. FASEB J (2008) 1.41
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am J Hum Genet (2008) 1.40
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. Neuromuscul Disord (2008) 1.39
Gene expression profile and histopathology of experimental bronchopulmonary dysplasia induced by prolonged oxidative stress. Free Radic Biol Med (2004) 1.38
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. FASEB J (2010) 1.36
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy. J Biol Chem (2006) 1.35
Human coenzyme Q10 deficiency. Neurochem Res (2006) 1.34
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice. Hum Mol Genet (2008) 1.33
Early-onset familial parkinsonism due to POLG mutations. Ann Neurol (2006) 1.31
Plasticity of renal erythropoietin-producing cells governs fibrosis. J Am Soc Nephrol (2013) 1.30
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. Arch Neurol (2003) 1.29
Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry. Mol Genet Metab (2003) 1.28
Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies. Ann Neurol (2003) 1.28
SOX antibodies in small-cell lung cancer and Lambert-Eaton myasthenic syndrome: frequency and relation with survival. J Clin Oncol (2009) 1.28
New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol (2013) 1.26
ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy. Hum Mol Genet (2003) 1.26
Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects. PLoS One (2010) 1.26
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. Hum Mol Genet (2008) 1.26
Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays. Clin Chem (2003) 1.26
Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients. Orphanet J Rare Dis (2011) 1.25
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord (2009) 1.24
Screening for small-cell lung cancer: a follow-up study of patients with Lambert-Eaton myasthenic syndrome. J Clin Oncol (2008) 1.23
HLA and smoking in prediction and prognosis of small cell lung cancer in autoimmune Lambert-Eaton myasthenic syndrome. J Neuroimmunol (2004) 1.23
Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency. Biochem Biophys Res Commun (2003) 1.22
Therapeutic end points in eosinophilic esophagitis: is elimination of esophageal eosinophils enough? Clin Gastroenterol Hepatol (2012) 1.22
Clinical Dutch-English Lambert-Eaton Myasthenic syndrome (LEMS) tumor association prediction score accurately predicts small-cell lung cancer in the LEMS. J Clin Oncol (2011) 1.21
Mutations in coenzyme Q10 biosynthetic genes. J Clin Invest (2007) 1.21
Arts syndrome is caused by loss-of-function mutations in PRPS1. Am J Hum Genet (2007) 1.20
Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients. Clin Chem (2002) 1.20
Approaches to the treatment of mitochondrial diseases. Muscle Nerve (2006) 1.19
POLG mutations and Alpers syndrome. Ann Neurol (2005) 1.19
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis (2012) 1.19
Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. Ann Neurol (2012) 1.19
Isolation and characterization of renal erythropoietin-producing cells from genetically produced anemia mice. PLoS One (2011) 1.18
Therapeutic prospects for mitochondrial disease. Trends Mol Med (2010) 1.17
Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol (2002) 1.17
A functionally dominant mitochondrial DNA mutation. Hum Mol Genet (2008) 1.17
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. J Med Genet (2012) 1.16
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). FEBS Lett (2007) 1.16
Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. J Neuropathol Exp Neurol (2005) 1.16
Pentoxifylline reduces fibrin deposition and prolongs survival in neonatal hyperoxic lung injury. J Appl Physiol (1985) (2004) 1.16
Protean phenotypic features of the A3243G mitochondrial DNA mutation. Arch Neurol (2009) 1.15
Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev (2010) 1.14
Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion. Am J Pathol (2008) 1.11
Primary coenzyme Q10 deficiency and the brain. Biofactors (2003) 1.11
Functional luminal imaging probe topography: an improved method for characterizing esophageal distensibility in eosinophilic esophagitis. Therap Adv Gastroenterol (2013) 1.11
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain (2009) 1.10
Intestinal growth factors: potential use in the treatment of inflammatory bowel disease and their role in mucosal healing. Inflamm Bowel Dis (2011) 1.10
Fenretinide induces mitochondrial ROS and inhibits the mitochondrial respiratory chain in neuroblastoma. Cell Mol Life Sci (2009) 1.09
Temporal trends in the relative prevalence of dysphagia etiologies from 1999-2009. World J Gastroenterol (2012) 1.09
Primary and secondary CoQ(10) deficiencies in humans. Biofactors (2011) 1.09
Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity. Clin Cancer Res (2003) 1.09
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. Neuromuscul Disord (2010) 1.09
MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy. Muscle Nerve (2004) 1.09
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet (2004) 1.08
Does linezolid cause lactic acidosis by inhibiting mitochondrial protein synthesis? Clin Infect Dis (2005) 1.08
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency. J Neurol (2014) 1.07