Published in Neurol Sci on October 01, 2005
Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol (2009) 1.17
Role of myotonic dystrophy protein kinase (DMPK) in glucose homeostasis and muscle insulin action. PLoS One (2007) 0.92
Myotonic dystrophy protein kinase (DMPK) prevents ROS-induced cell death by assembling a hexokinase II-Src complex on the mitochondrial surface. Cell Death Dis (2013) 0.90
Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases. J Lipid Res (2011) 0.84
Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms. Sci Rep (2015) 0.81
Molecular Effects of the CTG Repeats in Mutant Dystrophia Myotonica Protein Kinase Gene. Curr Genomics (2008) 0.80
Comparative transcriptional and biochemical studies in muscle of myotonic dystrophies (DM1 and DM2). Neurol Sci (2009) 0.78
Altered β-adrenergic response in mice lacking myotonic dystrophy protein kinase. Muscle Nerve (2012) 0.76
Global burden of cardiovascular diseases: part I: general considerations, the epidemiologic transition, risk factors, and impact of urbanization. Circulation (2001) 14.70
Global burden of cardiovascular diseases: Part II: variations in cardiovascular disease by specific ethnic groups and geographic regions and prevention strategies. Circulation (2001) 6.29
Analysis of human chromosome 21: correlation of physical and cytogenetic maps; gene and CpG island distributions. EMBO J (1990) 4.49
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet (1998) 4.38
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. Neurology (2010) 3.37
Arthropod-borne viral infections of man in Nigeria, 1964-1970. Ann Trop Med Parasitol (1975) 2.98
MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. Proc Natl Acad Sci U S A (1992) 2.82
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet (1991) 2.79
RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1. J Biol Chem (2000) 2.65
Correlating phenotype and genotype in the periodic paralyses. Neurology (2004) 2.55
Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet (1995) 2.53
MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol (1992) 2.48
Body mass index, waist circumference and waist:hip ratio as predictors of cardiovascular risk--a review of the literature. Eur J Clin Nutr (2009) 2.35
Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome. Science (1973) 2.34
Fingerprint body myopathy, a newly recognized congenital muscle disease. Mayo Clin Proc (1972) 2.34
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology (2009) 2.33
Ethnic comparisons of the cross-sectional relationships between measures of body size with diabetes and hypertension. Obes Rev (2008) 2.32
Cell-specific expression of connexins and evidence of restricted gap junctional coupling between glial cells and between neurons. J Neurosci (2001) 2.28
Glucose-6-phosphate dehydrogenase deficient red cells: resistance to infection by malarial parasites. Science (1969) 2.21
Cardioprotection with dexrazoxane for doxorubicin-containing therapy in advanced breast cancer. J Clin Oncol (1997) 2.17
Reliability of the North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord (2009) 2.13
Increased sickling of parasitised erythrocytes as mechanism of resistance against malaria in the sickle-cell trait. Lancet (1970) 2.11
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun (1995) 2.06
Immunogold evidence that neuronal gap junctions in adult rat brain and spinal cord contain connexin-36 but not connexin-32 or connexin-43. Proc Natl Acad Sci U S A (2000) 2.00
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. Neurology (2005) 1.90
Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum Mol Genet (1995) 1.89
Immunity, transferrin, and survival in kwashiorkor. Br Med J (1970) 1.89
Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med (1997) 1.82
Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology (1989) 1.81
A foodborne outbreak of gastroenteritis associated with Norwalk-like viruses: first molecular traceback to deli sandwiches contaminated during preparation. J Infect Dis (2000) 1.81
An overview of the CERC ARTEMIS project. Proc Annu Symp Comput Appl Med Care (1995) 1.80
Dengue viruses from febrile patients in Nigeria, 1964-68. Lancet (1971) 1.79
Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: evidence of subclinical myogenic myopathy. J Am Coll Cardiol (1989) 1.76
HDL and the inflammatory response induced by LDL-derived oxidized phospholipids. Arterioscler Thromb Vasc Biol (2001) 1.74
Cerebellar ataxia and coenzyme Q10 deficiency. Neurology (2003) 1.73
Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. Proc Natl Acad Sci U S A (1997) 1.66
The cellular src gene product regulates junctional cell-to-cell communication. Science (1988) 1.65
Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei. Neurology (1995) 1.62
Enhanced anti-HIV functional activity associated with Gag-specific CD8 T-cell responses. J Virol (2010) 1.60
Diabetes mellitus in Nigerians: a study of 832 patients. West Afr Med J Niger Pract (1971) 1.59
Retrospective study on PET-SPECT imaging in a large cohort of myotonic dystrophy type 1 patients. Neurol Sci (2010) 1.58
Biochemical assessment of protein-calorie malnutrition. Lancet (1969) 1.55
Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy. Circulation (1996) 1.54
Localization of the sites of conduction abnormalities in a mouse model of myotonic dystrophy. J Cardiovasc Electrophysiol (1999) 1.53
A strategy for the development of secure telemedicine applications. Proc AMIA Annu Fall Symp (1997) 1.52
MR of parenchymal spinal cord signal change as a sign of active advancement in clinically progressive posttraumatic syringomyelia. AJNR Am J Neuroradiol (1998) 1.51
Biochemical and anatomical observations on the degeneration of peptide-containing primary afferent neurons after neonatal capsaicin. Neuroscience (1981) 1.50
Glucose-6-phosphate-dehydrogenase deficiency, sickling, and malaria in African children in South Western Nigeria. Lancet (1967) 1.50
Proton MR spectroscopic measurement of neurometabolites in hepatic encephalopathy during oral lactulose therapy. AJNR Am J Neuroradiol (1998) 1.50
Connexin35 mediates electrical transmission at mixed synapses on Mauthner cells. J Neurosci (2003) 1.50
Genetic susceptibility to ozone-induced lung hyperpermeability: role of toll-like receptor 4. Am J Respir Cell Mol Biol (2000) 1.48
Targeting of a CD8 T cell env epitope presented by HLA-B*5802 is associated with markers of HIV disease progression and lack of selection pressure. AIDS Res Hum Retroviruses (2008) 1.46
Fingerstick glucose determination in shock. Ann Intern Med (1991) 1.46
Searches for Lepton flavor violation in the decays tau{+/-}-->e{+/-}gamma and tau{+/-}-->mu{+/-}gamma. Phys Rev Lett (2010) 1.44
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. Neurology (1998) 1.42
Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells. Exp Cell Res (2000) 1.42
Increases in depression after cholesterol-lowering drug treatment. Behav Med (1996) 1.39
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Hum Mol Genet (1996) 1.39
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
Cardiac involvement in Becker muscular dystrophy. J Am Coll Cardiol (1993) 1.36
Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet (2009) 1.35
The nucleus basalis magnocellularis: the origin of a cholinergic projection to the neocortex of the rat. Neuroscience (1980) 1.34
Plant-produced idiotype vaccines for the treatment of non-Hodgkin's lymphoma: safety and immunogenicity in a phase I clinical study. Proc Natl Acad Sci U S A (2008) 1.34
LM and EM immunolocalization of the gap junctional protein connexin 43 in rat brain. Brain Res (1990) 1.33
Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy. J Am Coll Cardiol (1995) 1.33
Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism. J Clin Pathol (2005) 1.31
Identification of cells expressing Cx43, Cx30, Cx26, Cx32 and Cx36 in gap junctions of rat brain and spinal cord. Cell Commun Adhes (2001) 1.31
A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy. Muscle Nerve (2000) 1.30
The systemic availability of oral glutathione. Eur J Clin Pharmacol (1992) 1.29
Erythromycin-sulfisoxazole vs amoxicillin in the treatment of acute otitis media in children. A double-blind, multiple-dose comparative study. Am J Dis Child (1985) 1.29
Muscle pathology in dysferlin deficiency. Neuropathol Appl Neurobiol (2002) 1.27
Whole body PET/CT for initial staging of choroidal melanoma. Br J Ophthalmol (2005) 1.25
Immunohistochemistry of adenosine deaminase: implications for adenosine neurotransmission. Science (1984) 1.25
Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts. Nat Genet (2000) 1.25
CTG repeats show bimodal amplification in E. coli. Cell (1998) 1.24
Connexin-47 and connexin-32 in gap junctions of oligodendrocyte somata, myelin sheaths, paranodal loops and Schmidt-Lanterman incisures: implications for ionic homeostasis and potassium siphoning. Neuroscience (2005) 1.24
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet (1996) 1.24
Selective disruption of genes expressed in totipotent embryonal stem cells. Genes Dev (1992) 1.24
Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromuscul Disord (1997) 1.24
Connexin36 vs. connexin32, "miniature" neuronal gap junctions, and limited electrotonic coupling in rodent suprachiasmatic nucleus. Neuroscience (2007) 1.22
Methadone: applied pharmacology and use as adjunctive treatment in chronic pain. Postgrad Med J (2004) 1.22
Caspase 3 expression correlates with skeletal muscle apoptosis in Duchenne and facioscapulo human muscular dystrophy. A potential target for pharmacological treatment? J Neuropathol Exp Neurol (2001) 1.21
A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum Mol Genet (1996) 1.21
Connexin47, connexin29 and connexin32 co-expression in oligodendrocytes and Cx47 association with zonula occludens-1 (ZO-1) in mouse brain. Neuroscience (2004) 1.21
DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model. J Clin Invest (1999) 1.20
Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes. Neurology (2009) 1.20
Cardiac and respiratory involvement in advanced stage Duchenne muscular dystrophy. Neuromuscul Disord (1996) 1.19
Screening for acute HIV infection in South Africa: finding acute and chronic disease. HIV Med (2011) 1.19
Dose-dependent effects of capsaicin on primary sensory neurons in the neonatal rat. J Neurosci (1983) 1.18
Pseudomonas aeruginosa bacteremia in patients with AIDS. Clin Infect Dis (1994) 1.18