Published in Proc Natl Acad Sci U S A on October 21, 2002
Phosphoinositides: tiny lipids with giant impact on cell regulation. Physiol Rev (2013) 3.21
Centronuclear (myotubular) myopathy. Orphanet J Rare Dis (2008) 2.53
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. PLoS Genet (2009) 2.23
Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet (2004) 1.85
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A (2009) 1.83
Endosomal phosphoinositides and human diseases. Traffic (2008) 1.64
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proc Natl Acad Sci U S A (2010) 1.64
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. J Cell Biol (2004) 1.53
Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy. Ann Transl Med (2015) 1.45
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum Mol Genet (2008) 1.44
Mice lacking microRNA 133a develop dynamin 2–dependent centronuclear myopathy. J Clin Invest (2011) 1.43
Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. Sci Transl Med (2014) 1.32
Talin 1 and 2 are required for myoblast fusion, sarcomere assembly and the maintenance of myotendinous junctions. Development (2009) 1.25
T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases. Skelet Muscle (2011) 1.22
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
The role of PI3P phosphatases in the regulation of autophagy. FEBS Lett (2010) 1.13
Centronuclear myopathy in mice lacking a novel muscle-specific protein kinase transcriptionally regulated by MEF2. Genes Dev (2005) 1.13
Membrane traffic and muscle: lessons from human disease. Traffic (2008) 1.12
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. Hum Mol Genet (2013) 1.09
Caenorhabditis elegans myotubularin MTM-1 negatively regulates the engulfment of apoptotic cells. PLoS Genet (2009) 1.07
Zebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy. Hum Mol Genet (2010) 1.07
Defective membrane remodeling in neuromuscular diseases: insights from animal models. PLoS Genet (2012) 1.05
Muscle function in a canine model of X-linked myotubular myopathy. Muscle Nerve (2012) 1.04
Phosphoinositide phosphatases in a network of signalling reactions. Pflugers Arch (2007) 1.03
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. Hum Mol Genet (2011) 1.03
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. Neuromuscul Disord (2007) 1.03
Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice. Am J Pathol (2011) 1.03
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet (2014) 0.99
Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. Am J Pathol (2012) 0.96
Defective autophagy and mTORC1 signaling in myotubularin null mice. Mol Cell Biol (2012) 0.95
Pathogenic mechanisms in centronuclear myopathies. Front Aging Neurosci (2014) 0.94
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice. PLoS Genet (2012) 0.93
Role for the pleckstrin homology domain-containing protein CKIP-1 in phosphatidylinositol 3-kinase-regulated muscle differentiation. Mol Cell Biol (2004) 0.93
Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance. PLoS Genet (2011) 0.92
Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate. J Biol Chem (2011) 0.92
Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. Dis Model Mech (2012) 0.92
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons. J Neuropathol Exp Neurol (2016) 0.91
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy. PLoS Genet (2013) 0.90
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy. J Clin Invest (2014) 0.89
The myotubularin family of lipid phosphatases in disease and in spermatogenesis. Biochem J (2011) 0.88
Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice. Am J Pathol (2014) 0.87
Gait characteristics in a canine model of X-linked myotubular myopathy. J Neurol Sci (2014) 0.87
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus. Brain (2014) 0.86
Characterization and functional studies of a FYVE domain-containing phosphatase in C. elegans. J Cell Biochem (2008) 0.82
PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models. J Clin Invest (2016) 0.81
Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy. Hum Mol Genet (2014) 0.80
Extensive morphological and immunohistochemical characterization in myotubular myopathy. Brain Behav (2013) 0.80
Genomic copy number variation in Mus musculus. BMC Genomics (2015) 0.79
Gene therapy in myotubular myopathy: promising progress and future directions. Ann Transl Med (2015) 0.79
Gene therapy for inherited muscle diseases: where genetics meets rehabilitation medicine. Am J Phys Med Rehabil (2014) 0.78
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. PLoS Genet (2013) 0.77
Respiratory assessment in centronuclear myopathies. Muscle Nerve (2014) 0.77
Dynamin 2 the rescue for centronuclear myopathy. J Clin Invest (2014) 0.77
Gene therapy in monogenic congenital myopathies. Methods (2015) 0.76
Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs. Ann Transl Med (2015) 0.76
Diaphragm assessment in mice overexpressing phospholamban in slow-twitch type I muscle fibers. Brain Behav (2016) 0.76
"Get the Balance Right": Pathological Significance of Autophagy Perturbation in Neuromuscular Disorders. J Neuromuscul Dis (2016) 0.76
Phosphatidylinositol 3-kinase inhibition restores Ca2+ release defects and prolongs survival in myotubularin-deficient mice. Proc Natl Acad Sci U S A (2016) 0.75
In vivo imaging of skeletal muscle in mice highlights muscle defects in a model of myotubular myopathy. Intravital (2016) 0.75
Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy. Cell (1997) 4.38
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet (1996) 3.67
The role of phosphoinositides in membrane transport. Curr Opin Cell Biol (2001) 3.57
Association of SET domain and myotubularin-related proteins modulates growth control. Nat Genet (1998) 3.32
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet (2001) 3.10
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet (2000) 2.96
Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Proc Natl Acad Sci U S A (2000) 2.59
Myotubular myopathy. Persistence of fetal muscle in an adolescent boy. Arch Neurol (1966) 2.41
Gene targeting restricted to mouse striated muscle lineage. Nucleic Acids Res (1999) 2.11
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy. Hum Mol Genet (2000) 2.09
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2A. Nat Med (1999) 1.94
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Hum Mol Genet (2000) 1.92
Medical complications in long-term survivors with X-linked myotubular myopathy. J Pediatr (1999) 1.74
MTM1 mutations in X-linked myotubular myopathy. Hum Mutat (2000) 1.72
Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy. J Cell Biol (2001) 1.64
Familial "myotubular" myopathy. Neurology (1969) 1.54
Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum Mol Genet (1998) 1.48
Serum CK, calcium, magnesium, and oxidative phosphorylation in mdx mouse muscular dystrophy. Muscle Nerve (1988) 1.36
The myotubularin family: from genetic disease to phosphoinositide metabolism. Trends Genet (2001) 1.27
Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children. Brain (1985) 1.27
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat (2002) 1.22
Impaired skeletal muscle maturation following neonatal neurectomy. Dev Biol (1968) 1.21
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. J Med Genet (1995) 1.21
Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle. Can J Neurol Sci (1990) 1.16
Diagnosis of X-linked myotubular myopathy by detection of myotubularin. Ann Neurol (2001) 1.11
PTEN and myotubularin phosphoinositide phosphatases: bringing bioinformatics to the lab bench. Curr Opin Cell Biol (2001) 1.07
Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy. Hum Mutat (1999) 1.01
Characterization of an adapter subunit to a phosphatidylinositol (3)P 3-phosphatase: identification of a myotubularin-related protein lacking catalytic activity. Proc Natl Acad Sci U S A (2001) 1.00
Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation. Ann Neurol (1985) 0.99
Quantitative measurement of muscle strength in the mouse. J Neurosci Methods (1995) 0.97
Neonatal myotubular myopathy: neuropathy and failure of postnatal maturation of fetal muscle. Can J Neurol Sci (1981) 0.94
Changes in motor innervation and histochemical pattern of muscle fibers in some congenital myopathies. Neurology (1976) 0.93
X-linked recessive myotubular myopathy: II. Muscle morphology and human myogenesis. Hum Pathol (1984) 0.93
The role of immunocytochemistry in congenital myopathies. Neuromuscul Disord (1998) 0.90
Normal innervation and differentiation of X-linked myotubular myopathy muscle cells in a nerve-muscle coculture system. Neuromuscul Disord (2001) 0.89
Ultrastructural changes in human muscle fibres in disease. J Submicrosc Cytol (1982) 0.88
Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy. J Neurol Sci (1994) 0.86
Centronuclear myopathy heterogeneity: distinction of clinical types by myosin isoform patterns. Neurology (1991) 0.86
Distinct contractile protein profile in congenital myotonic dystrophy and X-linked myotubular myopathy. Neuromuscul Disord (1991) 0.84
3-D Reconstructions for graphical databases of gene expression Semin Cell Dev Biol (1997) 0.84
Myotubular myopathy: morphological, immunohistochemical and clinical variation. Neuromuscul Disord (1998) 0.84
Abnormal expression of intermediate filament proteins in X-linked myotubular myopathy is not reproduced in vitro. Neuromuscul Disord (1995) 0.81
Bile acids induce energy expenditure by promoting intracellular thyroid hormone activation. Nature (2006) 9.36
Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions. Mol Cell (2002) 2.98
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61
Centronuclear (myotubular) myopathy. Orphanet J Rare Dis (2008) 2.53
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet (2007) 2.48
Peroxisome proliferator-activated receptor gamma is required in mature white and brown adipocytes for their survival in the mouse. Proc Natl Acad Sci U S A (2004) 2.46
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet (2006) 2.44
Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet (2005) 2.33
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat Genet (2005) 2.24
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain (2010) 2.21
Retracted VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. Cell (2009) 2.11
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet (2013) 2.10
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology (2013) 2.09
Control of autophagy initiation by phosphoinositide 3-phosphatase Jumpy. EMBO J (2009) 2.07
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet (2008) 2.04
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst) (2008) 2.02
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases. Hum Mol Genet (2003) 2.00
Retinoid X receptor ablation in adult mouse keratinocytes generates an atopic dermatitis triggered by thymic stromal lymphopoietin. Proc Natl Acad Sci U S A (2005) 1.92
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med (2011) 1.87
Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. Hum Mol Genet (2004) 1.85
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A (2009) 1.83
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. J Med Genet (2012) 1.79
Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction. J Biol Chem (2004) 1.73
Prokineticin receptor-1 induces neovascularization and epicardial-derived progenitor cell differentiation. Arterioscler Thromb Vasc Biol (2008) 1.69
The phosphoinositide kinase PIKfyve/Fab1p regulates terminal lysosome maturation in Caenorhabditis elegans. Mol Biol Cell (2006) 1.66
Daily on-line haemodiafiltration: a pilot trial in children. Nephrol Dial Transplant (2004) 1.65
Endosomal phosphoinositides and human diseases. Traffic (2008) 1.64
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proc Natl Acad Sci U S A (2010) 1.64
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. Hum Mol Genet (2010) 1.61
FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts. Hum Mol Genet (2005) 1.60
Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells. J Biol Chem (2003) 1.58
Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes. Curr Opin Genet Dev (2002) 1.57
Effect of peritoneal dialysis fluid composition on peritoneal area available for exchange in children. Nephrol Dial Transplant (2004) 1.54
Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry (2013) 1.52
Transgenic myocardial overexpression of prokineticin receptor-2 (GPR73b) induces hypertrophy and capillary vessel leakage. Cardiovasc Res (2008) 1.50
Sequential actions of myotubularin lipid phosphatases regulate endosomal PI(3)P and growth factor receptor trafficking. Mol Biol Cell (2008) 1.48
G-quadruplex RNA structure as a signal for neurite mRNA targeting. EMBO Rep (2011) 1.46
Adipose tissue-specific inactivation of the retinoblastoma protein protects against diabesity because of increased energy expenditure. Proc Natl Acad Sci U S A (2007) 1.46
Liver receptor homolog 1 is essential for ovulation. Genes Dev (2008) 1.45
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum Mol Genet (2008) 1.44
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet (2002) 1.41
A tension-induced mechanotransduction pathway promotes epithelial morphogenesis. Nature (2011) 1.41
Physiological and retinoid-induced proliferations of epidermis basal keratinocytes are differently controlled. EMBO J (2002) 1.36
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. Acta Neuropathol (2010) 1.34
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathol (2013) 1.34
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Hum Mol Genet (2002) 1.33
Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc Natl Acad Sci U S A (2009) 1.33
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. Hum Mol Genet (2006) 1.33
The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer. Nucleic Acids Res (2008) 1.32
Pathogenic and non-pathogenic polyglutamine tracts have similar structural properties: towards a length-dependent toxicity gradient. J Mol Biol (2007) 1.31
Myotubularin lipid phosphatase binds the hVPS15/hVPS34 lipid kinase complex on endosomes. Traffic (2007) 1.29
Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology. Trends Mol Med (2012) 1.29
The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles. J Cell Sci (2002) 1.29
Myosin II regulation during C. elegans embryonic elongation: LET-502/ROCK, MRCK-1 and PAK-1, three kinases with different roles. Development (2009) 1.29
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet (2005) 1.28
WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity. Dev Biol (2004) 1.26
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. Proc Natl Acad Sci U S A (2009) 1.26
SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. J Neurol (2009) 1.25
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat (2012) 1.25
Dual role of COUP-TF-interacting protein 2 in epidermal homeostasis and permeability barrier formation. J Invest Dermatol (2008) 1.23
T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases. Skelet Muscle (2011) 1.22
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J Clin Invest (2010) 1.21
CXorf6 is a causative gene for hypospadias. Nat Genet (2006) 1.21
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet (2013) 1.20
Genetic and pharmacological evidence that a retinoic acid cannot be the RXR-activating ligand in mouse epidermis keratinocytes. Genes Dev (2006) 1.19
Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. Proc Natl Acad Sci U S A (2003) 1.19
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing. Diabetes Care (2013) 1.18
The prokineticin receptor-1 (GPR73) promotes cardiomyocyte survival and angiogenesis. FASEB J (2007) 1.18
PtdIns5P regulation through evolution: roles in membrane trafficking? Trends Biochem Sci (2008) 1.17
Cells lacking the fragile X mental retardation protein (FMRP) have normal RISC activity but exhibit altered stress granule assembly. Mol Biol Cell (2008) 1.17
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A (2015) 1.17
Expression of myotubularin by an adenoviral vector demonstrates its function as a phosphatidylinositol 3-phosphate [PtdIns(3)P] phosphatase in muscle cell lines: involvement of PtdIns(3)P in insulin-stimulated glucose transport. Mol Endocrinol (2003) 1.15
Functional redundancy in the myotubularin family. Biochem Biophys Res Commun (2002) 1.15
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain (2013) 1.14
Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia. Dis Model Mech (2012) 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
TAF10 is required for the establishment of skin barrier function in foetal, but not in adult mouse epidermis. Dev Biol (2005) 1.11
Malignant transformation of DMBA/TPA-induced papillomas and nevi in the skin of mice selectively lacking retinoid-X-receptor alpha in epidermal keratinocytes. J Invest Dermatol (2007) 1.09
Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. J Biol Chem (2007) 1.08
Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy. Am J Med Genet A (2010) 1.06
Mutation update: the spectra of nebulin variants and associated myopathies. Hum Mutat (2014) 1.06
Defective membrane remodeling in neuromuscular diseases: insights from animal models. PLoS Genet (2012) 1.05
Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program. Hum Mol Genet (2006) 1.05
Serotonin is a novel survival factor of cardiomyocytes: mitochondria as a target of 5-HT2B receptor signaling. FASEB J (2003) 1.04