Published in Brain Dev on December 22, 2009
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet (2013) 0.95
Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities. Eur J Hum Genet (2010) 0.80
Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes. Autophagy (2007) 20.92
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
Structural basis for RNA unwinding by the DEAD-box protein Drosophila Vasa. Cell (2006) 5.70
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature (2002) 5.21
Mitochondrial fission factor Drp1 is essential for embryonic development and synapse formation in mice. Nat Cell Biol (2009) 4.78
Adiponectin and AdipoR1 regulate PGC-1alpha and mitochondria by Ca(2+) and AMPK/SIRT1. Nature (2010) 4.12
Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A (2007) 3.72
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest (2009) 3.05
LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med (2004) 3.00
Conserved role of nanos proteins in germ cell development. Science (2003) 2.86
Skeletal muscle FOXO1 (FKHR) transgenic mice have less skeletal muscle mass, down-regulated Type I (slow twitch/red muscle) fiber genes, and impaired glycemic control. J Biol Chem (2004) 2.72
Retracted VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. Cell (2009) 2.11
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med (2011) 1.87
Incomplete arousal processes in infants who were victims of sudden death. Am J Respir Crit Care Med (2003) 1.82
HapMap scanning of novel human minor histocompatibility antigens. Blood (2008) 1.75
Retracted A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet (2006) 1.70
Intramuscular transplantation of engineered hepatic tissue constructs corrects acute and chronic liver failure in mice. J Hepatol (2009) 1.64
Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle. Neuromuscul Disord (2008) 1.61
Drosophila Sex lethal gene initiates female development in germline progenitors. Science (2011) 1.58
Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model. Nat Med (2009) 1.57
Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy. Neuromuscul Disord (2006) 1.56
Identification of a transcriptional regulatory region for germline-specific expression of vasa gene in Drosophila melanogaster. Mech Dev (2002) 1.52
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. J Biol Chem (2004) 1.52
Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem (2001) 1.52
Two patients with acute rotavirus encephalitis associated with cerebellar signs and symptoms. Eur J Pediatr (2010) 1.50
Hemodynamics of the cerebral arteries of infants with periventricular leukomalacia. Pediatrics (2006) 1.50
Incidence and clinical features of disease progression in adult moyamoya disease. Stroke (2005) 1.47
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet (2013) 1.46
Late circulatory dysfunction and decreased cerebral blood flow volume in infants with periventricular leukomalacia. Brain Dev (2008) 1.43
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet (2007) 1.43
Brain magnetic resonance imaging and motor and intellectual functioning in 86 patients born at term with spastic diplegia. Dev Med Child Neurol (2012) 1.41
Regulation of Akt/PKB activity by P21-activated kinase in cardiomyocytes. J Mol Cell Cardiol (2007) 1.38
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy. Curr Neurol Neurosci Rep (2005) 1.36
Maternal Nanos represses hid/skl-dependent apoptosis to maintain the germ line in Drosophila embryos. Proc Natl Acad Sci U S A (2007) 1.34
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. Acta Neuropathol (2010) 1.34
Drosophila glypicans regulate the germline stem cell niche. J Cell Biol (2009) 1.34
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol (2006) 1.34
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathol (2013) 1.34
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice. Hum Mol Genet (2008) 1.33
Central core disease is due to RYR1 mutations in more than 90% of patients. Brain (2006) 1.32
Effect of professional oral health care on the elderly living in nursing homes. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2002) 1.31
Non-molting glossy/shroud encodes a short-chain dehydrogenase/reductase that functions in the 'Black Box' of the ecdysteroid biosynthesis pathway. Development (2010) 1.31
Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population. Mol Genet Metab (2005) 1.29
Canine X-linked muscular dystrophy in Japan (CXMDJ). Exp Anim (2003) 1.27
Autophagic degradation of nuclear components in mammalian cells. Autophagy (2009) 1.27
Unifying nomenclature for the isoforms of the lysosomal membrane protein LAMP-2. Traffic (2005) 1.27
Nanos suppresses somatic cell fate in Drosophila germ line. Proc Natl Acad Sci U S A (2004) 1.27
Ubiquitin ligase Cbl-b is a negative regulator for insulin-like growth factor 1 signaling during muscle atrophy caused by unloading. Mol Cell Biol (2009) 1.27
Antipruritic activity of the kappa-opioid receptor agonist, TRK-820. Eur J Pharmacol (2002) 1.26
Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays. Clin Chem (2003) 1.26
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest (2014) 1.24
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord (2009) 1.24
The first molecular evidence that autophagy relates rimmed vacuole formation in chloroquine myopathy. J Biochem (2002) 1.24
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord (2003) 1.23
Dysferlin interacts with affixin (beta-parvin) at the sarcolemma. J Neuropathol Exp Neurol (2005) 1.23
A role for the Drosophila fragile X-related gene in circadian output. Curr Biol (2002) 1.21
Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2. Hum Mol Genet (2010) 1.21
CXorf6 is a causative gene for hypospadias. Nat Genet (2006) 1.21
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet (2013) 1.20
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord (2002) 1.19
Overexpression of peroxisome proliferator-activated receptor gamma co-activator-1alpha leads to muscle atrophy with depletion of ATP. Am J Pathol (2006) 1.19
Boss/Sev signaling from germline to soma restricts germline-stem-cell-niche formation in the anterior region of Drosophila male gonads. Dev Cell (2007) 1.18
Identification and origin of the germline stem cells as revealed by the expression of nanos-related gene in planarians. Dev Growth Differ (2006) 1.18
Skeletal muscle gene expression in space-flown rats. FASEB J (2004) 1.18
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet (2003) 1.17
Impaired motor coordination in mice lacking neural recognition molecule NB-3 of the contactin/F3 subgroup. J Neurobiol (2003) 1.17
Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. J Neuropathol Exp Neurol (2005) 1.16
Diminished autophagy limits cardiac injury in mouse models of type 1 diabetes. J Biol Chem (2013) 1.15
Regulatory mechanisms of periodontal regeneration. Microsc Res Tech (2003) 1.15
Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro. Dev Biol (2011) 1.14
Neuroprotective effects of the free radical scavenger Edaravone (MCI-186) in mice permanent focal brain ischemia. Brain Res (2004) 1.13
Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness. Am J Pathol (2011) 1.13
Centronuclear myopathy in mice lacking a novel muscle-specific protein kinase transcriptionally regulated by MEF2. Genes Dev (2005) 1.13
Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan. Neuromuscul Disord (2005) 1.12
Risk of Listeria monocytogenes contamination of raw ready-to-eat seafood products available at retail outlets in Japan. Appl Environ Microbiol (2010) 1.11
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Am J Hum Genet (2011) 1.11
Short term triiodo-L-thyronine treatment inhibits cardiac myocyte apoptosis in border area after myocardial infarction in rats. J Mol Cell Cardiol (2007) 1.11
Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency. Tohoku J Exp Med (2005) 1.10
Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines. Am J Hum Genet (2010) 1.10
Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology (2006) 1.08
Subcellular localization of fukutin and fukutin-related protein in muscle cells. J Biochem (2004) 1.08
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
Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6. Am J Pathol (2009) 1.08