Published in Ann Neurol on July 01, 2008
Current status of the congenital myasthenic syndromes. Neuromuscul Disord (2011) 1.60
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. Lancet Neurol (2015) 1.44
What have we learned from the congenital myasthenic syndromes. J Mol Neurosci (2009) 1.29
Dok-7 regulates neuromuscular synapse formation by recruiting Crk and Crk-L. Genes Dev (2010) 1.11
Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction. Hum Mol Genet (2010) 1.10
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7. Neurology (2010) 1.08
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia. Muscle Nerve (2011) 1.05
The role of MuSK in synapse formation and neuromuscular disease. Cold Spring Harb Perspect Biol (2013) 1.03
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. Neurology (2009) 1.00
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. J Neurol (2011) 0.99
Ephexin1 is required for structural maturation and neurotransmission at the neuromuscular junction. Neuron (2010) 0.94
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. J Neurol (2009) 0.93
Molecular control of neuromuscular junction development. J Cachexia Sarcopenia Muscle (2011) 0.86
Congenital myasthenic syndromes in 2012. Curr Neurol Neurosci Rep (2012) 0.83
Endomicroscopy and electromyography of neuromuscular junctions in situ. Ann Clin Transl Neurol (2014) 0.78
Fatigue in Rapsyn-Deficient Zebrafish Reflects Defective Transmitter Release. J Neurosci (2016) 0.77
Muscle magnetic resonance imaging in congenital myasthenic syndromes. Muscle Nerve (2016) 0.77
Sorbs1 and -2 Interact with CrkL and Are Required for Acetylcholine Receptor Cluster Formation. Mol Cell Biol (2015) 0.75
The DNA sequence of the human X chromosome. Nature (2005) 6.97
G triplets located throughout a class of small vertebrate introns enforce intron borders and regulate splice site selection. Mol Cell Biol (1997) 3.20
ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet (2003) 3.12
Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice. Nature (1995) 3.10
The muscle protein Dok-7 is essential for neuromuscular synaptogenesis. Science (2006) 2.26
Effects of CCR5-Delta32, CCR2-64I, and SDF-1 3'A alleles on HIV-1 disease progression: An international meta-analysis of individual-patient data. Ann Intern Med (2001) 2.05
Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'. Brain (2006) 1.95
Current understanding of congenital myasthenic syndromes. Curr Opin Pharmacol (2005) 1.92
Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science (2006) 1.88
Acetylcholinesterase of human erythrocytes and neuromuscular junctions: homologies revealed by monoclonal antibodies. Proc Natl Acad Sci U S A (1982) 1.79
Ultrastructural localization of the acetylcholine receptor in myasthenia gravis and in its experimental autoimmune model. Neurology (1977) 1.78
Sleuthing molecular targets for neurological diseases at the neuromuscular junction. Nat Rev Neurosci (2003) 1.70
Distinct domains of MuSK mediate its abilities to induce and to associate with postsynaptic specializations. J Cell Biol (1999) 1.54
Nerve-independent formation of a topologically complex postsynaptic apparatus. J Cell Biol (2004) 1.54
A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel. Ann Neurol (1982) 1.52
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain (2007) 1.35
The therapy of congenital myasthenic syndromes. Neurotherapeutics (2007) 1.29
Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor. Muscle Nerve (1993) 1.27
Beta-catenin regulates acetylcholine receptor clustering in muscle cells through interaction with rapsyn. J Neurosci (2007) 1.22
Agrin-induced acetylcholine receptor clustering in mammalian muscle requires tyrosine phosphorylation. J Cell Biol (1996) 1.18
Clinical features of the DOK7 neuromuscular junction synaptopathy. Brain (2007) 1.17
The human adult subtype ACh receptor channel has high Ca2+ permeability and predisposes to endplate Ca2+ overloading. J Physiol (2006) 1.16
Congenital endplate acetylcholinesterase deficiency. Brain (1993) 1.16
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. Neurology (2003) 1.13
Agrin-induced phosphorylation of the acetylcholine receptor regulates cytoskeletal anchoring and clustering. J Cell Biol (2001) 1.10
Synapse disassembly and formation of new synapses in postnatal muscle upon conditional inactivation of MuSK. Mol Cell Neurosci (2005) 1.09
Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor. Muscle Nerve (1993) 1.05
Synaptic differentiation is defective in mice lacking acetylcholine receptor beta-subunit tyrosine phosphorylation. Development (2007) 1.01
The investigation of congenital myasthenic syndromes. Ann N Y Acad Sci (1993) 1.00
Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate. Muscle Nerve (1994) 0.99
Conversion Technology for the separation of maternal and paternal copies of any autosomal chromosome in somatic cell hybrids. Curr Protoc Hum Genet (2007) 0.97
Agrin and laminin induce acetylcholine receptor clustering by convergent, Rho GTPase-dependent signaling pathways. J Cell Sci (2007) 0.93
Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome. J Clin Invest (2007) 0.91
Analysis of a Shc family adaptor protein, ShcD/Shc4, that associates with muscle-specific kinase. Mol Cell Biol (2007) 0.90
Pathogenic point mutations in a transmembrane domain of the epsilon subunit increase the Ca2+ permeability of the human endplate ACh receptor. J Physiol (2007) 0.88
Novel congenital myasthenic syndromes associated with defects in quantal release. Neurology (2006) 0.79
Recent advances in Cys-loop receptor structure and function. Nature (2006) 4.20
Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2. Neurology (2013) 3.70
Mutations in myotilin cause myofibrillar myopathy. Neurology (2004) 2.41
Diseased skeletal muscle: a noncardiac source of increased circulating concentrations of cardiac troponin T. J Am Coll Cardiol (2011) 2.40
Correlation of muscle biopsy, clinical course, and outcome in PM and sporadic IBM. Neurology (2007) 2.14
3' tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer. BMC Genomics (2009) 2.12
Electromyographic findings in 37 patients with adult-onset acid maltase deficiency. Muscle Nerve (2015) 2.07
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat (2008) 2.04
Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol (2009) 2.03
Discovery of recurrent t(6;7)(p25.3;q32.3) translocations in ALK-negative anaplastic large cell lymphomas by massively parallel genomic sequencing. Blood (2010) 1.90
Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol (2005) 1.80
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain (2004) 1.80
Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. Ann Neurol (2003) 1.77
Glutathione S-transferase T1 and M1: gene sequence variation and functional genomics. Clin Cancer Res (2007) 1.75
Human arsenic methyltransferase (AS3MT) pharmacogenetics: gene resequencing and functional genomics studies. J Biol Chem (2006) 1.74
Human aromatase: gene resequencing and functional genomics. Cancer Res (2005) 1.71
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet (2002) 1.61
Are MuSK antibodies the primary cause of myasthenic symptoms? Neurology (2004) 1.54
Conserved recurrent gene mutations correlate with pathway deregulation and clinical outcomes of lung adenocarcinoma in never-smokers. BMC Med Genomics (2014) 1.53
Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A (2003) 1.50
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation. Neuromuscul Disord (2010) 1.50
Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site. Neurology (2012) 1.49
Monotonicity of nerve tests in diabetes: subclinical nerve dysfunction precedes diagnosis of polyneuropathy. Diabetes Care (2005) 1.46
Ultrasound-guided needle EMG of the diaphragm: technique description and case report. Muscle Nerve (2008) 1.43
Ultrasound applications in electrodiagnosis. PM R (2012) 1.42
Clinical and electrophysiologic features of oculopharyngeal muscular dystrophy: lack of evidence for an associated peripheral neuropathy. Clin Neurophysiol (2010) 1.41
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship. Neuromuscul Disord (2011) 1.41
Individual attributes versus composite scores of nerve conduction abnormality: sensitivity, reproducibility, and concordance with impairment. Muscle Nerve (2003) 1.41
Primer on medical genomics part I: History of genetics and sequencing of the human genome. Mayo Clin Proc (2002) 1.39
Do retained pediatric implants impact later total hip arthroplasty? J Pediatr Orthop (2013) 1.39
Femoral neck fractures in pediatric patients: 30 years experience at a level 1 trauma center. Clin Orthop Relat Res (2007) 1.37
Functional genetic polymorphisms in the aromatase gene CYP19 vary the response of breast cancer patients to neoadjuvant therapy with aromatase inhibitors. Cancer Res (2010) 1.37
The genomic landscape of small intestine neuroendocrine tumors. J Clin Invest (2013) 1.37
Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating. J Clin Invest (2003) 1.36
126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands. Neuromuscul Disord (2005) 1.35
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. J Med Genet (2011) 1.33
Sporadic late onset nemaline myopathy. Neurology (2005) 1.32
Gemcitabine pharmacogenomics: cytidine deaminase and deoxycytidylate deaminase gene resequencing and functional genomics. Clin Cancer Res (2006) 1.30
What have we learned from the congenital myasthenic syndromes. J Mol Neurosci (2009) 1.29
Multi-platform analysis of microRNA expression measurements in RNA from fresh frozen and FFPE tissues. PLoS One (2013) 1.24
Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating. J Gen Physiol (2002) 1.23
Implementing individualized medicine into the medical practice. Am J Med Genet C Semin Med Genet (2014) 1.21
Alpha1-antitrypsin and neutrophil elastase imbalance and lung cancer risk. Chest (2005) 1.20
Glutathione S-transferase omega 1 and omega 2 pharmacogenomics. Drug Metab Dispos (2006) 1.17
The human adult subtype ACh receptor channel has high Ca2+ permeability and predisposes to endplate Ca2+ overloading. J Physiol (2006) 1.16
Reconstitution of paired T cell receptor alpha- and beta-chains from microdissected single cells of human inflammatory tissues. Proc Natl Acad Sci U S A (2006) 1.14
Structural abnormalities at neuromuscular synapses lacking multiple syntrophin isoforms. J Neurosci (2004) 1.12
The natural history of long thoracic and spinal accessory neuropathies. Muscle Nerve (2002) 1.12
Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown. Ann Neurol (2006) 1.12
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. Ann Neurol (2013) 1.11
Human methylenetetrahydrofolate reductase pharmacogenomics: gene resequencing and functional genomics. Pharmacogenet Genomics (2006) 1.10
Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. Circ Cardiovasc Genet (2011) 1.10
Glutathione s-transferase p1: gene sequence variation and functional genomic studies. Cancer Res (2008) 1.09
Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling. Eur J Hum Genet (2010) 1.08
C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse. J Biol Chem (2003) 1.08
Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders. Genet Med (2013) 1.07
Outcomes of slipped capital femoral epiphysis treated with in situ pinning. J Pediatr Orthop (2012) 1.06
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia. Muscle Nerve (2011) 1.05
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. Ann Neurol (2005) 1.05
Human betaine-homocysteine methyltransferase (BHMT) and BHMT2: common gene sequence variation and functional characterization. Mol Genet Metab (2008) 1.05
Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating. J Clin Invest (2008) 1.04
Pediatric shoulder instability: presentation, findings, treatment, and outcomes. J Pediatr Orthop (2001) 1.03
Sequence variations of the human MPDZ gene and association with alcoholism in subjects with European ancestry. Alcohol Clin Exp Res (2009) 1.03
A new muscle glycogen storage disease associated with glycogenin-1 deficiency. Ann Neurol (2014) 1.03
Motocross morbidity: economic cost and injury distribution in children. J Pediatr Orthop (2009) 1.03
Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders. EMBO J (2004) 1.02
Proteasome beta subunit pharmacogenomics: gene resequencing and functional genomics. Clin Cancer Res (2008) 1.02
Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction. Ann N Y Acad Sci (2003) 1.02
Intraoperative electromyographic monitoring of the recurrent laryngeal nerve in reoperative thyroid and parathyroid surgery. Surgery (2004) 1.01
hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome. Hum Mol Genet (2008) 1.00
Human estrogen sulfotransferase (SULT1E1) pharmacogenomics: gene resequencing and functional genomics. Br J Pharmacol (2003) 1.00
Urgent surgical decompression compared to methylprednisolone for the treatment of acute spinal cord injury: a randomized prospective study in beagle dogs. Spine (Phila Pa 1976) (2008) 1.00
E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. Hum Mol Genet (2003) 0.99
Frequency of seronegativity in adult-acquired generalized myasthenia gravis. Muscle Nerve (2007) 0.99
Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations. Muscle Nerve (2011) 0.98
Human phenylethanolamine N-methyltransferase pharmacogenomics: gene re-sequencing and functional genomics. J Neurochem (2005) 0.98
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. J Neurol (2011) 0.97
Regenerative medicine blueprint. Stem Cells Dev (2013) 0.97
Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome. Hum Mol Genet (2009) 0.96
Further observations in congenital myasthenic syndromes. Ann N Y Acad Sci (2008) 0.95
Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating. J Clin Invest (2012) 0.95
Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker. Brain (2004) 0.95
Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. Neuromuscul Disord (2004) 0.94
Incidence of slipped capital femoral epiphysis: a population-based study. J Pediatr Orthop B (2010) 0.93
Treatment of slow-channel congenital myasthenic syndrome with fluoxetine. Neurology (2003) 0.93
Human SULT1A3 pharmacogenetics: gene duplication and functional genomic studies. Biochem Biophys Res Commun (2004) 0.92
Ischial spine sign reveals acetabular retroversion in Legg-Calvé-Perthes disease. Clin Orthop Relat Res (2011) 0.92
Primer on medical genomics. Part III: Microarray experiments and data analysis. Mayo Clin Proc (2002) 0.91
The muscle protein dysferlin accumulates in the Alzheimer brain. Acta Neuropathol (2006) 0.91
Human catecholamine sulfotransferase (SULT1A3) pharmacogenetics: functional genetic polymorphism. J Neurochem (2003) 0.91
LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. Hum Mol Genet (2013) 0.91