Published in Neurology on March 23, 2004
Clinico-radiological spectrum of bilateral temporal lobe hyperintensity: a retrospective review. Br J Radiol (2012) 0.84
Megalencephalic leukoencephalopathy with subcortical cysts: A report of four cases. J Pediatr Neurosci (2011) 0.81
Diagnosing "undiagnosed" leukodystrophies: The role of molecular genetics. Neurology (2004) 0.80
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India. JIMD Rep (2015) 0.80
Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research. PLoS One (2016) 0.79
Megalencephalic leukoencephalopathy with sub cortical cysts: An inherited dysmyelinating disorder. J Pediatr Neurosci (2013) 0.75
Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. Neurology (2004) 0.75
Malignant transformation in a case of megalencephalic leukoencephalopathy with subcortical cysts: An extreme rarity in a rare disorder. Ann Indian Acad Neurol (2016) 0.75
Medical genetics and genomic medicine in India: current status and opportunities ahead. Mol Genet Genomic Med (2015) 0.75
Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts. PLoS One (2012) 0.75
A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22. Ann Lab Med (2017) 0.75
Megalencephalic leucoencephalopathy with subcortical cysts: subcortical diffuse leucoencephalopathy associated with white matter cystic degeneration. BMJ Case Rep (2015) 0.75
Gene-expression profiles in hereditary breast cancer. N Engl J Med (2001) 29.80
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell (1987) 16.01
miR-21-mediated tumor growth. Oncogene (2006) 9.90
Amplified DNA with limited homology to myc cellular oncogene is shared by human neuroblastoma cell lines and a neuroblastoma tumour. Nature (1983) 8.18
Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs. J Virol (1995) 5.18
Human immunodeficiency virus type 1 LTR TATA and TAR region sequences required for transcriptional regulation. EMBO J (1989) 4.24
Advances in quantification and characterization of telomerase activity by the telomeric repeat amplification protocol (TRAP). Nucleic Acids Res (1997) 4.22
Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts. Nature (1989) 4.08
APC binds to the novel protein EB1. Cancer Res (1995) 3.98
Germline mutations in the ribonuclease L gene in families showing linkage with HPC1. Nat Genet (2002) 3.67
Amplification of P-glycoprotein genes in multidrug-resistant mammalian cell lines. Nature (1985) 3.59
Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell (1988) 3.57
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. Neurology (2010) 3.37
Immunoelectron microscopic localization of dystrophin in myofibres. Nature (1988) 3.37
Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology. J Cell Biol (2000) 3.34
Population-based study of BRCA1 and BRCA2 mutations in 1035 unselected Finnish breast cancer patients. J Natl Cancer Inst (2000) 3.12
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet (2001) 3.05
Gene organization and recombinational hotspots in the murine major histocompatibility complex. Cell (1986) 2.93
Evidence for a prostate cancer susceptibility locus on the X chromosome. Nat Genet (1998) 2.90
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet (1991) 2.79
The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. Nature (1988) 2.75
Mutations in the integrin alpha7 gene cause congenital myopathy. Nat Genet (1998) 2.66
The safety and feasibility of extracorporeal high-intensity focused ultrasound (HIFU) for the treatment of liver and kidney tumours in a Western population. Br J Cancer (2005) 2.66
Corin, a transmembrane cardiac serine protease, acts as a pro-atrial natriuretic peptide-converting enzyme. Proc Natl Acad Sci U S A (2000) 2.54
Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet (1995) 2.53
Early onset of inflammation and later involvement of TGFbeta in Duchenne muscular dystrophy. Neurology (2005) 2.53
Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol (2001) 2.43
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet (1999) 2.42
MR findings in adult-onset adrenoleukodystrophy. AJNR Am J Neuroradiol (1995) 2.42
Chromosome localization in normal human cells and neuroblastomas of a gene related to c-myc. Nature (1984) 2.32
Transcription program of human herpesvirus 8 (kaposi's sarcoma-associated herpesvirus). J Virol (2001) 2.31
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann Neurol (2001) 2.29
Fluorescent cDNA microarray hybridization reveals complexity and heterogeneity of cellular genotoxic stress responses. Oncogene (1999) 2.29
Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology (1999) 2.24
Novel, ligation-dependent PCR assay for detection of hepatitis C in serum. J Clin Microbiol (1996) 2.19
Role of SP1-binding domains in in vivo transcriptional regulation of the human immunodeficiency virus type 1 long terminal repeat. J Virol (1989) 2.14
High-intensity focused ultrasound for the treatment of liver tumours. Ultrasonics (2004) 2.14
Lysosomal glycogen storage disease with normal acid maltase. Neurology (1981) 2.13
Microarrays and toxicology: the advent of toxicogenomics. Mol Carcinog (1999) 2.12
Identification of potential mRNA biomarkers in peripheral blood lymphocytes for human exposure to ionizing radiation. Radiat Res (2000) 2.11
Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol (1999) 2.06
Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science (1990) 1.99
Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28. Am J Hum Genet (1997) 1.99
Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev (2001) 1.99
Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. Am J Hum Genet (1998) 1.98
Evidence for rearrangement, amplification, and expression of c-myc in a human glioblastoma. Proc Natl Acad Sci U S A (1986) 1.93
A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. Nature (1991) 1.92
Biphasic metaplastic sarcomatoid carcinoma of the breast. Ann Oncol (2006) 1.91
Independent amplification and frequent co-amplification of three nonsyntenic regions on the long arm of chromosome 20 in human breast cancer. Cancer Res (1996) 1.89
Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum Mol Genet (1995) 1.89
Normal myogenic cells from newborn mice restore normal histology to degenerating muscles of the mdx mouse. J Cell Biol (1990) 1.86
Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med (1997) 1.82
Recruitment experience in the first phase of the African American Hereditary Prostate Cancer (AAHPC) study. Ann Epidemiol (2000) 1.79
Hyperthermus butylicus, a hyperthermophilic sulfur-reducing archaebacterium that ferments peptides. J Bacteriol (1990) 1.76
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J Pediatr (1995) 1.73
Elevated basic fibroblast growth factor in the serum of patients with Duchenne muscular dystrophy. Ann Neurol (1994) 1.73
Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology (1999) 1.72
Data analysis and integration: of steps and arrows. Nat Genet (1999) 1.71
Induction of gene expression as a monitor of exposure to ionizing radiation. Radiat Res (2001) 1.69
Organization and evolution of D region class I genes in the mouse major histocompatibility complex. J Exp Med (1986) 1.68
Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus. Proc Natl Acad Sci U S A (2000) 1.66
Molecular cloning, structure, and chromosomal localization of the human inducible nitric oxide synthase gene. J Biol Chem (1994) 1.64
Effect of chronic salt loading on adenosine metabolism and receptor expression in renal cortex and medulla in rats. Hypertension (1999) 1.64
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
Negative regulation of lncRNA GAS5 by miR-21. Cell Death Differ (2013) 1.60
Identification of a chromosome 6-encoded dystrophin-related protein. J Biol Chem (1990) 1.60
The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. Neurology (1991) 1.59
Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification. Neurobiol Dis (2001) 1.59
Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann Neurol (1995) 1.58
Elevated circulating endothelial microparticles and brachial-ankle pulse wave velocity in well-controlled hypertensive patients. J Hum Hypertens (2008) 1.57
Genetic mapping and dominance of the amber suppressor, Su1 (supD), in Escherichia coli K-12. J Bacteriol (1970) 1.57
Selective loss of sarcolemmal nitric oxide synthase in Becker muscular dystrophy. J Exp Med (1996) 1.56
Roentgenographic skeletal injury patterns in parachute jumping. Am J Sports Med (1983) 1.55
Caveolin-3 in muscular dystrophy. Hum Mol Genet (1998) 1.55
A transdominant tat mutant that inhibits tat-induced gene expression from the human immunodeficiency virus long terminal repeat. Proc Natl Acad Sci U S A (1990) 1.55
Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. Neurology (2002) 1.54
Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes. Hum Mol Genet (1997) 1.53
Automated Talairach atlas-based parcellation and measurement of cerebral lobes in children. Psychiatry Res (1999) 1.51
A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype. Ann Neurol (1998) 1.48
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet (1990) 1.48
Hypoglossal nerve palsy due to spontaneous dissection of the internal carotid artery. Clin Radiol (2000) 1.47
The oculocardiac reflex in cataract surgery in the elderly. Br J Ophthalmol (1997) 1.47
Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab (1996) 1.46
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res (1995) 1.45
Activation of the cytoplasmic c-Abl tyrosine kinase by reactive oxygen species. J Biol Chem (2000) 1.45
Interaction between protein kinase C delta and the c-Abl tyrosine kinase in the cellular response to oxidative stress. J Biol Chem (2000) 1.43
Upstream regulatory regions required to stabilize binding to the TATA sequence in an adenovirus early promoter. Nucleic Acids Res (1987) 1.43
A solution to diffraction biases in sonoelasticity: the acoustic impulse technique. J Acoust Soc Am (1999) 1.43
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. Neurology (1998) 1.42
Tracts of high or low sequence divergence in the mouse major histocompatibility complex. EMBO J (1984) 1.42
Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab (1997) 1.40
Praseodymium hydroxide and oxide nanorods and Au/Pr6O11 nanorod catalysts for CO oxidation. J Phys Chem B (2006) 1.40
Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses. Proc Natl Acad Sci U S A (1989) 1.40
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Hum Mol Genet (1996) 1.39