Published in Brain Dev on June 01, 2002
Epilepsy secondary to tuberous sclerosis: lessons learned and current challenges. Childs Nerv Syst (2010) 0.90
TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review. Genet Mol Biol (2017) 0.84
Left-right asymmetry in the light of TOR: An update on what we know so far. Biol Cell (2015) 0.76
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. Eur J Hum Genet (2009) 0.76
Comparison of Color Fundus Photography, Infrared Fundus Photography, and Optical Coherence Tomography in Detecting Retinal Hamartoma in Patients with Tuberous Sclerosis Complex. Chin Med J (Engl) (2016) 0.75
Effects of cyclodextrin in two patients with Niemann-Pick Type C disease. Mol Genet Metab (2012) 2.52
Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis. Proc Natl Acad Sci U S A (2003) 1.57
Depletion of Uric Acid Due to SLC22A12 (URAT1) Loss-of-Function Mutation Causes Endothelial Dysfunction in Hypouricemia. Circ J (2015) 1.55
Functional assessment of ABCG2 (BCRP) gene polymorphisms to protein expression in human placenta. Drug Metab Dispos (2004) 1.41
Electrophysiological properties of prion-positive cardiac progenitors derived from murine embryonic stem cells. Circ J (2012) 1.40
Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: a new syndrome? Brain Dev (2007) 1.39
A method for producing transgenic cells using a multi-integrase system on a human artificial chromosome vector. PLoS One (2011) 1.26
Characterization of sequential N-cadherin cleavage by ADAM10 and PS1. Neurosci Lett (2006) 1.22
Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis. Biochem Biophys Res Commun (2008) 1.21
Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity. Ann Neurol (2002) 1.16
Uricosuric action of losartan via the inhibition of urate transporter 1 (URAT 1) in hypertensive patients. Am J Hypertens (2008) 1.15
Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy. J Mol Biol (2008) 1.15
A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae. Eur J Med Genet (2009) 1.12
Genomic copy number variations at 17p13.3 and epileptogenesis. Epilepsy Res (2010) 1.09
Association of the neuronal cell adhesion molecule (NRCAM) gene variants with autism. Int J Neuropsychopharmacol (2008) 1.09
Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population. Am J Med Genet B Neuropsychiatr Genet (2004) 1.07
TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. Genomics (2009) 1.06
N-octyl-beta-valienamine up-regulates activity of F213I mutant beta-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease. Biochim Biophys Acta (2004) 1.05
Fragile X carrier screening and FMR1 allele distribution in the Japanese population. Brain Dev (2009) 1.02
A neuropeptide ligand of the G protein-coupled receptor GPR103 regulates feeding, behavioral arousal, and blood pressure in mice. Proc Natl Acad Sci U S A (2006) 1.01
A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. Am J Med Genet A (2011) 1.00
Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation. J Clin Endocrinol Metab (2005) 1.00
Distinction between the literal and intended meanings of sentences: a functional magnetic resonance imaging study of metaphor and sarcasm. Cortex (2011) 0.97
The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein. Am J Pathol (2005) 0.95
Association of Merkel cell polyomavirus infection with clinicopathological differences in Merkel cell carcinoma. Hum Pathol (2012) 0.95
Chaperone activity of bicyclic nojirimycin analogues for Gaucher mutations in comparison with N-(n-nonyl)deoxynojirimycin. Chembiochem (2009) 0.94
Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts. Mol Genet Metab (2009) 0.93
Chemical chaperone therapy: clinical effect in murine G(M1)-gangliosidosis. Ann Neurol (2007) 0.93
Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. Brain Dev (2007) 0.93
Chemopreventive effects of gefitinib on nonsmoking-related lung tumorigenesis in activating epidermal growth factor receptor transgenic mice. Cancer Res (2009) 0.93
Reciprocal control of hERG stability by Hsp70 and Hsc70 with implication for restoration of LQT2 mutant stability. Circ Res (2010) 0.92
Axonal dystrophy of dorsal root ganglion sensory neurons in a mouse model of Niemann-Pick disease type C. Exp Neurol (2004) 0.92
Activity-dependent regulation of beta-catenin via epsilon-cleavage of N-cadherin. Biochem Biophys Res Commun (2006) 0.92
Allelic expression imbalance of the human CYP3A4 gene and individual phenotypic status. Hum Mol Genet (2004) 0.92
Vascular endothelial cells that express dystroglycan are involved in angiogenesis. J Cell Sci (2002) 0.92
The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice. Brain Dev (2012) 0.91
Acute encephalitis with refractory, repetitive partial seizures: case reports of this unusual post-encephalitic epilepsy. Brain Dev (2006) 0.91
Lack of AKT activation in lung cancer cells with EGFR mutation is a novel marker of cetuximab sensitivity. Cancer Biol Ther (2012) 0.91
Laminar cortical necrosis in adrenal crisis: sequential changes on MRI. Brain Dev (2007) 0.91
Biotinylated theta-toxin derivative as a probe to examine intracellular cholesterol-rich domains in normal and Niemann-Pick type C1 cells. J Lipid Res (2003) 0.91
Brainstem neuropathology in a mouse model of Niemann-Pick disease type C. J Neurol Sci (2008) 0.90
Presenilin 1 is involved in the maturation of beta-site amyloid precursor protein-cleaving enzyme 1 (BACE1). J Neurosci Res (2007) 0.90
Benign and malignant tumors in Down syndrome: analysis of the 1514 autopsied cases in Japan. Pediatr Int (2011) 0.90
Aberrant promoter methylation and expression of the imprinted PEG3 gene in glioma. Proc Jpn Acad Ser B Phys Biol Sci (2009) 0.89
Super scan using positron emission tomography in lung cancer patients. J Thorac Oncol (2007) 0.89
Enzyme enhancement activity of N-octyl-beta-valienamine on beta-glucosidase mutants associated with Gaucher disease. Biochim Biophys Acta (2007) 0.89
Synergistic effect of olaparib with combination of cisplatin on PTEN-deficient lung cancer cells. Mol Cancer Res (2012) 0.89
JAK2-related pathway induces acquired erlotinib resistance in lung cancer cells harboring an epidermal growth factor receptor-activating mutation. Cancer Sci (2012) 0.89
Lysosomal storage causes cellular dysfunction in mucolipidosis II skin fibroblasts. J Biol Chem (2011) 0.89
Fibroblast screening for chaperone therapy in beta-galactosidosis. Brain Dev (2006) 0.88
LC/ESI-MS/MS analysis of urinary 3β-sulfooxy-7β-N-acetylglucosaminyl-5-cholen-24-oic acid and its amides: new biomarkers for the detection of Niemann-Pick type C disease. Steroids (2013) 0.88
Neural substrates of sarcasm: a functional magnetic-resonance imaging study. Brain Res (2006) 0.87
Impairment of ubiquitin-proteasome system by E334K cMyBPC modifies channel proteins, leading to electrophysiological dysfunction. J Mol Biol (2011) 0.87
Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case. Neuropathology (2013) 0.87
Smad expression of hepatic stellate cells in liver cirrhosis in vivo and hepatic stellate cell line in vitro. Pathol Int (2003) 0.87
A case of galactosialidosis with a homozygous Q49R point mutation. Brain Dev (2008) 0.86
Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains. Brain Res (2006) 0.86
A Fluorescent sp2-iminosugar with pharmacological chaperone activity for gaucher disease: synthesis and intracellular distribution studies. Chembiochem (2010) 0.86
Reactivation of persistent Epstein-Barr virus (EBV) causes secretion of thyrotropin receptor antibodies (TRAbs) in EBV-infected B lymphocytes with TRAbs on their surface. Autoimmunity (2015) 0.86
Coordinate downregulation of a novel imprinted transcript ITUP1 with PEG3 in glioma cell lines. DNA Res (2004) 0.86
Cholesterol depletion facilitates ubiquitylation of NPC1 and its association with SKD1/Vps4. J Cell Sci (2006) 0.86
No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population. J Hum Genet (2007) 0.85
A sensitive and reproducible fluorescent-based HPLC assay to measure the activity of acid as well as neutral beta-glucocerebrosidases. Anal Biochem (2008) 0.85
Hsp90 prevents interaction between CHIP and HERG proteins to facilitate maturation of wild-type and mutant HERG proteins. Cardiovasc Res (2013) 0.85
Polyhistidine tract expansions in HOXA1 result in intranuclear aggregation and increased cell death. Biochem Biophys Res Commun (2005) 0.85
Simultaneous quantification of glucosylceramide and galactosylceramide by normal-phase HPLC using O-phtalaldehyde derivatives prepared with sphingolipid ceramide N-deacylase. Glycobiology (2009) 0.85
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. Hum Mutat (2011) 0.85
Efficacy of 2-Hydroxypropyl-β-cyclodextrin in Niemann-Pick Disease Type C Model Mice and Its Pharmacokinetic Analysis in a Patient with the Disease. Biol Pharm Bull (2015) 0.84
Evidence for proteasomal degradation of Kv1.5 channel protein. Biochem Biophys Res Commun (2005) 0.84
Subtype switching of T-type Ca 2+ channels from Cav3.2 to Cav3.1 during differentiation of embryonic stem cells to cardiac cell lineage. Circ J (2005) 0.84
A Japanese case of fragile-X-associated tremor/ataxia syndrome (FXTAS). Intern Med (2010) 0.84
New GAA mutations in Japanese patients with GSDII (Pompe disease). Pediatr Neurol (2003) 0.83