Published in Neurology on May 28, 2002
GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology (2011) 1.69
GFAP and its role in Alexander disease. Exp Cell Res (2007) 1.66
The clinical spectrum of late-onset Alexander disease: a systematic literature review. J Neurol (2010) 1.11
Propensity for paternal inheritance of de novo mutations in Alexander disease. Hum Genet (2005) 0.97
Adult-onset Alexander disease : report on a family. J Neurol (2007) 0.93
An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein. J Neurol (2007) 0.83
Infantile onset alexander disease with normal head circumference: a genetically proven case report. J Clin Diagn Res (2014) 0.81
An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant. J Neurol (2009) 0.78
A conserved rod domain phosphotyrosine that is targeted by the phosphatase PTP1B promotes keratin 8 protein insolubility and filament organization. J Biol Chem (2013) 0.78
CSF and Blood Levels of GFAP in Alexander Disease(1,2,3). eNeuro (2015) 0.77
Intermediate filament proteinopathies: from cytoskeletons to genes to functional nosology. Neurology (2002) 0.75
Atypical MRI features in familial adult onset Alexander disease: case report. BMC Neurol (2016) 0.75
Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis. Case Rep Genet (2017) 0.75
Isolation of Intermediate Filament Proteins from Multiple Mouse Tissues to Study Aging-associated Post-translational Modifications. J Vis Exp (2017) 0.75
A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease. Hum Genome Var (2017) 0.75
The sequence of the human genome. Science (2001) 101.55
The genome sequence of Drosophila melanogaster. Science (2000) 74.32
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
Safety and antitumor activity of recombinant soluble Apo2 ligand. J Clin Invest (1999) 7.69
hGFAP-cre transgenic mice for manipulation of glial and neuronal function in vivo. Genesis (2001) 6.29
An evolutionarily conserved function of the Drosophila insulin receptor and insulin-like peptides in growth control. Curr Biol (2001) 6.15
Type IV pili, transient bacterial aggregates, and virulence of enteropathogenic Escherichia coli. Science (1998) 5.49
Myalgic encephalomyelitis: International Consensus Criteria. J Intern Med (2011) 4.98
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet (2001) 4.63
Results of Operations at the Johns Hopkins Hospital for Cancer of the Breast: Performed at the Johns Hopkins Hospital from 1889 to 1931. Ann Surg (1932) 4.54
Mitochondrial abnormalities in Alzheimer's disease. J Neurosci (2001) 4.39
The cardiovascular response of normal humans to the administration of endotoxin. N Engl J Med (1989) 4.24
Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet (2007) 4.13
Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts. Nature (1989) 4.08
Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell (1988) 3.57
Transgenic mice harboring SV40 T-antigen genes develop characteristic brain tumors. Cell (1984) 3.56
Tumors of the breast related to the oestrin hormone. Am J Cancer (1934) 3.51
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
Gonococcal pili. Primary structure and receptor binding domain. J Exp Med (1984) 3.32
Deletion of the K(V)1.1 potassium channel causes epilepsy in mice. Neuron (1998) 3.18
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet (2001) 3.05
Solar forcing of drought frequency in the Maya lowlands. Science (2001) 3.03
Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science (1973) 2.91
GYNECOMASTIA, VIRGINAL HYPERTROPHY AND FIBROADENOMAS OF THE BREAST. Ann Surg (1934) 2.83
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet (1991) 2.79
GFAP promoter directs astrocyte-specific expression in transgenic mice. J Neurosci (1994) 2.77
SUBCUTANEOUS INJURIES OF THE ABDOMEN. Ann Surg (1933) 2.77
The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. Nature (1988) 2.75
Strain-specific and common epitopes of gonococcal pili. J Exp Med (1984) 2.72
Mutations in the integrin alpha7 gene cause congenital myopathy. Nat Genet (1998) 2.66
Live astrocytes visualized by green fluorescent protein in transgenic mice. Dev Biol (1997) 2.64
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
Broadly reactive reverse transcriptase polymerase chain reaction for the diagnosis of SRSV-associated gastroenteritis. J Med Virol (1995) 2.53
Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. Neurology (2004) 2.48
Climate change as the dominant control on glacial-interglacial variations in C3 and C4 plant abundance. Science (2001) 2.46
A prospective, randomized, controlled trial of prednisone for dilated cardiomyopathy. N Engl J Med (1989) 2.45
Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol (2001) 2.43
Monoclonal antibodies to osteoclastomas (giant cell bone tumors): definition of osteoclast-specific cellular antigens. Cancer Res (1985) 2.42
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
Toxic amino acids: their action as antimetabolites. Adv Enzymol Relat Areas Mol Biol (1967) 2.35
Pancreatic neoplasia induced by SV40 T-antigen expression in acinar cells of transgenic mice. Science (1987) 2.35
Absence of the beta subunit (cchb1) of the skeletal muscle dihydropyridine receptor alters expression of the alpha 1 subunit and eliminates excitation-contraction coupling. Proc Natl Acad Sci U S A (1996) 2.31
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann Neurol (2001) 2.29
Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology (1999) 2.24
Evidence that Alzheimer neurofibrillary tangles originate from neurotubules. Lancet (1979) 2.22
Lysosomal glycogen storage disease with normal acid maltase. Neurology (1981) 2.13
SV40 enhancer and large-T antigen are instrumental in development of choroid plexus tumours in transgenic mice. Nature (1985) 2.10
Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol (1999) 2.06
Spatial and temporal variation in abundance of Anopheles (Diptera:Culicidae) in a malaria endemic area in Papua New Guinea. J Med Entomol (1997) 2.04
Histidine regulation in Salmonella typhimurium. IX. Histidine transfer ribonucleic acid of the regulatory mutants. J Biol Chem (1972) 2.04
Creutzfeldt-Jakob disease : report of 10 cases from North India. Neurol India (2001) 2.02
Ultrasound guidance improves the success rate of internal jugular vein cannulation. A prospective, randomized trial. Chest (1990) 2.02
Parental confidence in measles, mumps and rubella vaccine: evidence from vaccine coverage and attitudinal surveys. Br J Gen Pract (2002) 2.00
Bone marrow NK1.1(-) and NK1.1(+) T cells reciprocally regulate acute graft versus host disease. J Exp Med (1999) 2.00
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
Norwalk-like viruses: demonstration of genomic diversity by polymerase chain reaction. J Clin Microbiol (1993) 1.96
Current activities at the Centers for Disease Control and Prevention's National Diabetes Laboratory. Diabetes Technol Ther (1999) 1.95
Senile plaques and cerebral amyloidosis in aged dogs. A histochemical and ultrastructural study. Lab Invest (1970) 1.93
Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology (2003) 1.92
A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. Nature (1991) 1.92
Suppression of protein synthesis in brain during hibernation involves inhibition of protein initiation and elongation. Proc Natl Acad Sci U S A (1998) 1.91
Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum Mol Genet (1995) 1.89
Critical flicker frequency: diagnostic tool for minimal hepatic encephalopathy. J Hepatol (2007) 1.88
Molecular detection and epidemiology of Sapporo-like viruses. J Clin Microbiol (2000) 1.86
Normal myogenic cells from newborn mice restore normal histology to degenerating muscles of the mdx mouse. J Cell Biol (1990) 1.86
Use of CHROMagar Candida medium for isolation of yeasts from dental samples. J Clin Microbiol (1995) 1.83
EFFECT OF AGE ON THE ENZYME ACTIVITY IN ERYTHROCYTES. Proc Natl Acad Sci U S A (1958) 1.83
Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. Hum Genet (2002) 1.82
Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med (1997) 1.82
Mayan urbanism: impact on a tropical karst environment. Science (1979) 1.81
Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy. Neurology (2005) 1.77
Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn (2002) 1.74
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J Pediatr (1995) 1.73
The effect of intravenous metformin on glucose metabolism during hyperglycaemia in type 2 diabetes. Diabet Med (1992) 1.73
Elevated basic fibroblast growth factor in the serum of patients with Duchenne muscular dystrophy. Ann Neurol (1994) 1.73
TUMORS OF PERIPHERAL NERVES. Ann Surg (1930) 1.73
Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology (1999) 1.72
Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol (2001) 1.71
GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology (2011) 1.69
P0-Cre transgenic mice for inactivation of adhesion molecules in Schwann cells. Ann N Y Acad Sci (1999) 1.68
Storage and retrieval of single photons transmitted between remote quantum memories. Nature (2005) 1.67
Distinct epidemiological patterns of Norwalk-like virus infection. J Med Virol (2000) 1.66
What are melanocytes really doing all day long...? Exp Dermatol (2009) 1.65