Published in Brain Dev on September 28, 2006
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Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD). PLoS Genet (2013) 1.00
Effects of cyclodextrin in two patients with Niemann-Pick Type C disease. Mol Genet Metab (2012) 2.52
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Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis. Proc Natl Acad Sci U S A (2003) 1.57
Refractory epilepsy accompanying acute encephalitis with multifocal cortical lesions: possible autoimmune etiology. Brain Dev (2007) 1.44
Thiamine-deficient encephalopathy due to excessive intake of isotonic drink or overstrict diet therapy in Japanese children. Brain Dev (2009) 1.42
Outcome of acute necrotizing encephalopathy in relation to treatment with corticosteroids and gammaglobulin. Brain Dev (2008) 1.41
The androgen receptor in health and disease. Annu Rev Physiol (2012) 1.41
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
Clinical and genetic investigation of 17 Japanese patients with hyperekplexia. Dev Med Child Neurol (2014) 1.39
Retracted A cell cycle-dependent co-repressor mediates photoreceptor cell-specific nuclear receptor function. EMBO J (2007) 1.39
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
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
Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy). Orphanet J Rare Dis (2013) 1.08
Dynamics of microcystins-LR and -RR in the phytoplanktivorous silver carp in a sub-chronic toxicity experiment. Environ Pollut (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
Nuclear receptor coregulators merge transcriptional coregulation with epigenetic regulation. Trends Biochem Sci (2011) 1.04
Spatial distribution and temporal variation of Microcystis species composition and microcystin concentration in Lake Biwa. Environ Toxicol (2005) 1.04
Brachial and lumbar plexuses in chronic inflammatory demyelinating polyradiculoneuropathy: MRI assessment including apparent diffusion coefficient. Neuroradiology (2010) 1.04
Zinc finger protein 467 is a novel regulator of osteoblast and adipocyte commitment. J Biol Chem (2010) 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
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat (2013) 0.98
JMJD5, a Jumonji C (JmjC) domain-containing protein, negatively regulates osteoclastogenesis by facilitating NFATc1 protein degradation. J Biol Chem (2012) 0.97
Distinction between the literal and intended meanings of sentences: a functional magnetic resonance imaging study of metaphor and sarcasm. Cortex (2011) 0.97
Reversible infantile respiratory chain deficiency: a clinical and molecular study. Ann Neurol (2010) 0.95
Chaperone activity of bicyclic nojirimycin analogues for Gaucher mutations in comparison with N-(n-nonyl)deoxynojirimycin. Chembiochem (2009) 0.94
MECP2 duplication syndrome in both genders. Brain Dev (2012) 0.94
Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B. Neuromuscul Disord (2008) 0.93
Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. Brain Dev (2007) 0.93
Chemical chaperone therapy: clinical effect in murine G(M1)-gangliosidosis. Ann Neurol (2007) 0.93
Approximate entropy in the electroencephalogram during wake and sleep. Clin EEG Neurosci (2005) 0.92
Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis. Dev Med Child Neurol (2011) 0.92
Bromoderma in a patient with migrating partial seizures in infancy. Epilepsy 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
TET3-OGT interaction increases the stability and the presence of OGT in chromatin. Genes Cells (2013) 0.92
The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice. Brain Dev (2012) 0.91
Laminar cortical necrosis in adrenal crisis: sequential changes on MRI. Brain Dev (2007) 0.91
Acute encephalitis with refractory, repetitive partial seizures: case reports of this unusual post-encephalitic epilepsy. Brain Dev (2006) 0.91
A nationwide survey on Marinesco-Sjögren syndrome in Japan. Orphanet J Rare Dis (2014) 0.91
Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients. J Neurol (2013) 0.91
Accumulation of microcystins in various organs of the freshwater snail Sinotaia histrica and three fishes in a temperate lake, the eutrophic Lake Suwa, Japan. Toxicon (2006) 0.90
Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy. Epilepsia (2009) 0.90
Approximate entropy of the electroencephalogram in healthy awake subjects and absence epilepsy patients. Clin EEG Neurosci (2005) 0.90
Brainstem neuropathology in a mouse model of Niemann-Pick disease type C. J Neurol Sci (2008) 0.90
A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish. J Hum Genet (2010) 0.90
Benign and malignant tumors in Down syndrome: analysis of the 1514 autopsied cases in Japan. Pediatr Int (2011) 0.90
Enzyme enhancement activity of N-octyl-beta-valienamine on beta-glucosidase mutants associated with Gaucher disease. Biochim Biophys Acta (2007) 0.89
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. J Neurol Neurosurg Psychiatry (2013) 0.88
Decreased resting energy expenditure in patients with Duchenne muscular dystrophy. Brain Dev (2011) 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
Glucose-induced expression of MIP-1 genes requires O-GlcNAc transferase in monocytes. Biochem Biophys Res Commun (2010) 0.88
Neural substrates of sarcasm: a functional magnetic-resonance imaging study. Brain Res (2006) 0.87
Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms. Brain Dev (2008) 0.87
Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders. Mitochondrion (2009) 0.87
A Fluorescent sp2-iminosugar with pharmacological chaperone activity for gaucher disease: synthesis and intracellular distribution studies. Chembiochem (2010) 0.86
A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy. J Hum Genet (2003) 0.86
Cholesterol depletion facilitates ubiquitylation of NPC1 and its association with SKD1/Vps4. J Cell Sci (2006) 0.86
Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains. Brain Res (2006) 0.86
Startle epilepsy associated with gait-induced seizures: Pathomechanism analysis using EEG, MEG, and PET studies. Epilepsia (2008) 0.85
Retracted Phosphorylation of Williams syndrome transcription factor by MAPK induces a switching between two distinct chromatin remodeling complexes. J Biol Chem (2009) 0.85
Efficacy and tolerance of gastrostomy feeding in Japanese muscular dystrophy patients. Brain Dev (2011) 0.85
Acute autonomic sensory and motor neuropathy associated with parvovirus B19 infection. Brain Dev (2010) 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
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
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
Retracted Double PHD fingers protein DPF2 recognizes acetylated histones and suppresses the function of estrogen-related receptor alpha through histone deacetylase 1. J Biol Chem (2010) 0.84
New GAA mutations in Japanese patients with GSDII (Pompe disease). Pediatr Neurol (2003) 0.83
Sequential neuroradiological and neurophysiological studies in a Japanese girl with merosin-deficient congenital muscular dystrophy. Brain Dev (2010) 0.83
Quantum control study of multilevel effect on ultrafast isotope-selective vibrational excitations. J Chem Phys (2009) 0.83
Behavioral and psychiatric disorders in Prader-Willi syndrome: a population study in Japan. Brain Dev (2007) 0.83
Familial limb pain in childhood: unusual manifestation of migraine? Brain Dev (2006) 0.83
Postnatal evolution of cortical malformation in the "non-affected" hemisphere of hemimegalencephaly. Brain Dev (2009) 0.83
Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. Brain Dev (2002) 0.83
Basal ganglia germinoma: diagnostic value of MR spectroscopy and (11)C-methionine positron emission tomography. J Neurol Sci (2008) 0.83
Reduced sensitivity of Niemann-Pick C1-deficient cells to theta-toxin (perfringolysin O): sequestration of toxin to raft-enriched membrane vesicles. Histochem Cell Biol (2004) 0.83
Rasmussen encephalitis associated with SCN 1 A mutation. Epilepsia (2007) 0.82
Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia. Neuromuscul Disord (2011) 0.82
Magnetoencephalography in patients with tuberous sclerosis and localization-related epilepsy. Epilepsia (2006) 0.82
Associated factors in neonatal hypoglycemic brain injury. Brain Dev (2008) 0.82
Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Brain Dev (2009) 0.82
Late-onset epilepsy in children with acute febrile encephalopathy with prolonged convulsions: A clinical and encephalographic study. Brain Dev (2012) 0.82
Therapeutic chaperone effect of N-octyl 4-epi-β-valienamine on murine G(M1)-gangliosidosis. Mol Genet Metab (2012) 0.82
Association of acute cerebellar ataxia and human papilloma virus vaccination: a case report. Neuropediatrics (2013) 0.82
Cochlear damage due to germanium-induced mitochondrial dysfunction in guinea pigs. Neurosci Lett (2005) 0.82
Long term prognosis of symptomatic occipital lobe epilepsy secondary to neonatal hypoglycemia. Epilepsy Res (2009) 0.81