Published in Neuromuscul Disord on July 01, 2005
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet (2006) 1.56
Ocular myositis: diagnostic assessment, differential diagnoses, and therapy of a rare muscle disease - five new cases and review. Clin Ophthalmol (2007) 1.31
What have we learned from the congenital myasthenic syndromes. J Mol Neurosci (2009) 1.29
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. Neurology (2009) 1.00
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. J Neurol (2011) 0.91
High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarrays. PLoS One (2007) 0.84
Dok-7/MuSK signaling and a congenital myasthenic syndrome. Acta Myol (2008) 0.84
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. J Neuromuscul Dis (2016) 0.81
The emerging diversity of neuromuscular junction disorders. Acta Myol (2007) 0.80
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. Acta Neuropathol Commun (2014) 0.79
AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands. J Neurol (2009) 0.79
Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes. J Neurol (2010) 0.79
Therapeutic strategies in congenital myasthenic syndromes. Neurotherapeutics (2008) 0.78
Bulbar dysfunction: An early presentation of congenital myasthenic syndrome in three infants. J Pediatr Neurosci (2011) 0.75
A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family. Chin Med J (Engl) (2016) 0.75
Congenital myasthenic syndromes: Clinical and molecular report on 7 Sicilian patients. J Pediatr Neurosci (2013) 0.75
Recent advances in Cys-loop receptor structure and function. Nature (2006) 4.20
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain (2006) 3.16
Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet (2007) 2.48
Mutations in myotilin cause myofibrillar myopathy. Neurology (2004) 2.41
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet (2005) 2.38
Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet (2005) 2.33
Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy. J Cell Biol (2009) 2.30
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet (2009) 2.22
Correlation of muscle biopsy, clinical course, and outcome in PM and sporadic IBM. Neurology (2007) 2.14
Electromyographic findings in 37 patients with adult-onset acid maltase deficiency. Muscle Nerve (2015) 2.07
The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy. Nat Cell Biol (2007) 2.04
Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol (2009) 2.03
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet (2005) 1.95
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. Nat Genet (2009) 1.95
Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science (2006) 1.88
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet (2006) 1.84
MUSK, a new target for mutations causing congenital myasthenic syndrome. Hum Mol Genet (2004) 1.83
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
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat (2013) 1.78
Neurology in sub-Saharan Africa: a challenge for World Federation of Neurology. Neurology (2007) 1.78
5' trans-splicing repair of the PLEC1 gene. J Invest Dermatol (2007) 1.77
Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. Ann Neurol (2003) 1.77
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain (2007) 1.73
Pathological consequences of VCP mutations on human striated muscle. Brain (2006) 1.68
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry (2013) 1.64
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet (2002) 1.61
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet (2003) 1.57
Are MuSK antibodies the primary cause of myasthenic symptoms? Neurology (2004) 1.54
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat (2009) 1.54
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet (2009) 1.51
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
Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. Am J Hum Genet (2009) 1.49
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet (2008) 1.49
Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site. Neurology (2012) 1.49
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord (2007) 1.46
Limb-girdle muscular dystrophies. Curr Opin Neurol (2008) 1.42
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship. Neuromuscul Disord (2011) 1.41
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet (2010) 1.40
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet (2011) 1.39
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. Hum Mol Genet (2009) 1.37
Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy. J Cell Biol (2009) 1.36
Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating. J Clin Invest (2003) 1.36
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain (2007) 1.35
Risk of developing a mitochondrial DNA deletion disorder. Lancet (2004) 1.34
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy. Hum Mol Genet (2011) 1.32
Sporadic late onset nemaline myopathy. Neurology (2005) 1.32
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med (2014) 1.30
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain (2010) 1.28
New aspects on patients affected by dysferlin deficient muscular dystrophy. J Neurol Neurosurg Psychiatry (2009) 1.28
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat (2015) 1.26
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol (2003) 1.26
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain (2007) 1.25
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol (2005) 1.25
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul Disord (2010) 1.25
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. Hum Mutat (2012) 1.23
Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating. J Gen Physiol (2002) 1.23
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain (2008) 1.22
Homozygosity for CCTG mutation in myotonic dystrophy type 2. Brain (2004) 1.21
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. Muscle Nerve (2010) 1.21
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. J Neurol (2011) 1.21
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet (2013) 1.20
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. J Neurol Neurosurg Psychiatry (2011) 1.19
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Brain (2013) 1.18
Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission. Expert Rev Mol Med (2007) 1.17
Translating the genomics revolution: the need for an international gene therapy consortium for monogenic diseases. Mol Ther (2013) 1.16
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet (2009) 1.16
The human adult subtype ACh receptor channel has high Ca2+ permeability and predisposes to endplate Ca2+ overloading. J Physiol (2006) 1.16
Linker molecules between laminins and dystroglycan ameliorate laminin-alpha2-deficient muscular dystrophy at all disease stages. J Cell Biol (2007) 1.15
Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PLoS One (2013) 1.14
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
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
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain (2009) 1.10
Interventions for muscular dystrophy: molecular medicines entering the clinic. Lancet (2009) 1.10
The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases. Orphanet J Rare Dis (2013) 1.09
125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands. Neuromuscul Disord (2004) 1.09
Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells. Exp Cell Res (2004) 1.08
157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands. Neuromuscul Disord (2008) 1.08
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol (2005) 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
Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations. J Inherit Metab Dis (2010) 1.07
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency. J Neurol (2014) 1.07
What's in the serum of seronegative MG and LEMS?: MuSK et al. Neurology (2002) 1.07
Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP). Brain (2008) 1.07
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. Ann Neurol (2005) 1.05
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia. Muscle Nerve (2011) 1.05
Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. Ann Neurol (2008) 1.05
Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating. J Clin Invest (2008) 1.04
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J Neurol Sci (2007) 1.04
A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation. Neuromuscul Disord (2003) 1.04
A new muscle glycogen storage disease associated with glycogenin-1 deficiency. Ann Neurol (2014) 1.03
Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders. EMBO J (2004) 1.02
Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle. Muscle Nerve (2003) 1.02
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? Brain (2012) 1.01
Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2. J Neurol (2010) 1.01