Published in Neurology on October 26, 2004
Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach. Bone Marrow Transplant (2010) 1.36
CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders. Biochim Biophys Acta (2012) 1.10
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. J Inherit Metab Dis (2011) 1.05
Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features. J Neurol (2007) 0.90
Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options. Front Cell Neurosci (2017) 0.84
Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis. Case Rep Neurol (2012) 0.78
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy. J Neurol (2011) 0.76
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. Neuroradiol J (2013) 0.76
Requirement of the RNA helicase-like protein PRP22 for release of messenger RNA from spliceosomes. Nature (1991) 6.12
Are epilepsy classifications based on epileptic syndromes and seizure types outdated? Epileptic Disord (2006) 3.36
Progressive multifocal leukoencephalopathy in HIV infection presenting as Balint's syndrome. Neurology (1994) 2.14
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology (2006) 2.11
Infusion of platelets transiently reduces nucleoside overload in MNGIE. Neurology (2006) 1.98
Purification of a RNA debranching activity from HeLa cells. J Biol Chem (1987) 1.94
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol (2000) 1.82
Identification of five putative yeast RNA helicase genes. Proc Natl Acad Sci U S A (1990) 1.80
Spongiform leucoencephalopathy after inhaling heroin. Lancet (1991) 1.68
Discovery of novel antifungal (1,3)-beta-D-glucan synthase inhibitors. Antimicrob Agents Chemother (2000) 1.66
[Melanotic medulloblastoma. Ultrastructural and histochemical study of a case]. Arch Neurobiol (Madr) (1990) 1.64
Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease. Neurology (2003) 1.56
Continuous muscle fiber activity, peripheral neuropathy, and thymoma. Ann Neurol (1991) 1.48
Time window for clinical effectiveness of mass evacuation in a rat balloon model mimicking an intraparenchymatous hematoma. J Neurol Sci (2000) 1.44
Molecular analysis of Spanish patients with AMP deaminase deficiency. Muscle Nerve (2000) 1.42
[Diagnosis of Alzheimer's disease. Evaluation of senile plaques of the diffuse type]. Med Clin (Barc) (1992) 1.40
Congenital hydranencephalic-hydrocephalic syndrome associated with mitochondrial dysfunction. J Child Neurol (1999) 1.40
[Idiopathic thrombocytopenic purpura in 5 members of a family]. Sangre (Barc) (1994) 1.39
[Chronic fatigue syndrome: study of a consecutive series of 824 cases assessed in two specialized units]. Rev Clin Esp (2011) 1.39
[Axilla skin biopsy in the diagnosis of Lafora's disease]. Neurologia (1994) 1.39
[Percutaneous endoscopic gastrostomy. Reality in the intra- and extra-community clinical nutritional practice]. Rev Clin Esp (2005) 1.39
[Hallucinogens: drugs to dream with? A preventive health-care intervention in the primary care context]. Aten Primaria (2004) 1.39
Correlation of sperm motility with mitochondrial enzymatic activities. Clin Chem (1998) 1.37
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV. Am J Hum Genet (1999) 1.36
Screening of antimicrobial activities in red, green and brown macroalgae from Gran Canaria (Canary Islands, Spain). Int Microbiol (2001) 1.32
Evidence for the presence of 5S rRNA in mammalian mitochondria. Mol Biol Cell (1998) 1.32
Isolation and characterization of two fractions from HeLa cells required for mRNA splicing in vitro. Proc Natl Acad Sci U S A (1985) 1.30
Feasibility and tolerability of transnasal/per-oral placement of the wireless pH capsule vs. traditional 24-h oesophageal pH monitoring--a randomized trial. Aliment Pharmacol Ther (2005) 1.29
Cloning of mDEAH9, a putative RNA helicase and mammalian homologue of Saccharomyces cerevisiae splicing factor Prp43. Proc Natl Acad Sci U S A (1997) 1.24
Pathology of a new toxic syndrome caused by ingestion of adulterated oil in Spain. Virchows Arch A Pathol Anat Histol (1982) 1.23
Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts. Biochim Biophys Acta (2010) 1.23
A new phenotype of dysferlinopathy with congenital onset. Neuromuscul Disord (2008) 1.20
Suprasellar chordoid glioma. Acta Neuropathol (2000) 1.20
Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias. Am J Hum Genet (1989) 1.19
Experimental test of quantum contextuality in neutron interferometry. Phys Rev Lett (2009) 1.19
Dysferlin expression in monocytes: a source of mRNA for mutation analysis. Neuromuscul Disord (2006) 1.17
Effect of nitric oxide on mitochondrial respiratory activity of human articular chondrocytes. Ann Rheum Dis (2005) 1.16
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. Neurology (1999) 1.16
Acoustic divergence in two cryptic Hipposideros species: a role for social selection? Proc Biol Sci (2001) 1.16
Semiautomated measurement of nitrate in biological fluids. Clin Chem (1998) 1.15
A novel breast tissue density classification methodology. IEEE Trans Inf Technol Biomed (2008) 1.14
Microbial natural products as a source of antifungals. Clin Microbiol Infect (2003) 1.13
Myophosphorylase deficiency (glycogenosis type V; McArdle disease). Curr Mol Med (2002) 1.11
Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA. Neurology (1998) 1.09
The isolation and characterization of an RNA helicase from nuclear extracts of HeLa cells. J Biol Chem (1991) 1.08
[Thyroid myopathy. Effect of treatment with thyroid hormones]. An Med Interna (1990) 1.07
[Sneddon's syndrome: its clinical characteristics and etiopathogenic factors]. Rev Clin Esp (1992) 1.07
Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study. Ann Neurol (2001) 1.06
[Hypothyroid myopathy. Clinico-pathologic study of 20 cases]. An Med Interna (1990) 1.06
Patterns of antimicrobial activities from soil actinomycetes isolated under different conditions of pH and salinity. J Appl Microbiol (2003) 1.06
Diagnosis by axilla skin biopsy in an early case of Lafora's disease. J Neurol Neurosurg Psychiatry (1992) 1.06
Complex I defect in muscle from patients with Huntington's disease. Ann Neurol (1998) 1.04
The enzymatic conversion of 3'-phosphate terminated RNA chains to 2',3'-cyclic phosphate derivatives. J Biol Chem (1985) 1.02
About the "Pathological" role of the mtDNA T3308C mutationellipsis. Am J Hum Genet (1999) 1.00
In vitro formation of a lariat structure containing a G2'-5'G linkage. J Biol Chem (1987) 1.00
Bacteriophage lambda-mediated transposon mutagenesis of phytopathogenic and epiphytic Erwinia species is strain dependent. Mol Gen Genet (1989) 1.00
Mitochondrial diseases associated with cerebral folate deficiency. Neurology (2008) 0.99
Neuropathological studies on the toxic syndrome related to adulterated rapeseed oil in Spain. Brain (1983) 0.99
Classification and scoring systems in myelodysplastic syndromes: a retrospective analysis of 311 patients. Leuk Res (2006) 0.99
Role of European mitochondrial DNA haplogroups in the prevalence of hip osteoarthritis in Galicia, Northern Spain. Ann Rheum Dis (2010) 0.99
Acute painful diabetic neuropathy following severe weight loss. Muscle Nerve (1996) 0.98
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases. Ann Neurol (2000) 0.98
Wound-Induced RNase Activity in Sweet Potato : EVIDENCE FOR REGULATION AT TRANSCRIPTION. Plant Physiol (1982) 0.97
A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. Neurology (2003) 0.97
I-cell disease (mucolipidosis II):a report on its pathology. Acta Neuropathol (1975) 0.97
Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE. Gene Ther (2011) 0.97
Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene. Biochem Biophys Res Commun (1997) 0.96
Mitochondrial activity is modulated by TNFalpha and IL-1beta in normal human chondrocyte cells. Osteoarthritis Cartilage (2006) 0.96
Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation. Neurology (2001) 0.95
Mutations in mtDNA: are we scraping the bottom of the barrel? Brain Pathol (2000) 0.95
Plasma carnitine insufficiency and effectiveness of L-carnitine therapy in patients with mitochondrial myopathy. Muscle Nerve (1993) 0.95
Fatal familial insomnia: clinical, neuropathological, and genetic description of a Spanish family. J Neurol Neurosurg Psychiatry (2000) 0.95
Peginterferon alpha-2b plus ribavirin vs interferon alpha-2b plus ribavirin for chronic hepatitis C in HIV-coinfected patients. J Viral Hepat (2007) 0.94
Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. Pediatr Neurol (1997) 0.93
Myocardial carnitine and carnitine palmitoyltransferase deficiencies in patients with severe heart failure. Biochim Biophys Acta (2000) 0.93
Intestinal pseudo-obstruction and urinary retention: cardinal features of a mitochondrial DNA-related disease. J Intern Med (2003) 0.93
Hyperkalaemic paralysis, neuropathy and persistent motor neuron discharges at rest in Addison's disease. J Neurol Neurosurg Psychiatry (1980) 0.93
Thyroid hormone regulates oxidative phosphorylation in the cerebral cortex and striatum of neonatal rats. J Neurochem (2001) 0.93