Published in Neurol Sci on November 12, 2014
Copackaged AAV9 Vectors Promote Simultaneous Immune Tolerance and Phenotypic Correction of Pompe Disease. Hum Gene Ther (2016) 0.78
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients. Sci Rep (2016) 0.78
Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy. Mol Genet Metab Rep (2015) 0.77
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Cardiac involvement in adults with Pompe disease. J Intern Med (2008) 1.72
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The impact of antibodies in late-onset Pompe disease: a case series and literature review. Mol Genet Metab (2012) 1.60
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Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol (2012) 1.57
Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology (2005) 1.35
The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings. Clin Neurophysiol (2011) 1.01
Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy. Genet Med (2011) 0.92
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. Orphanet J Rare Dis (2012) 0.90
The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry. Mol Genet Metab (2011) 0.89
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Rigid spine syndrome revealing late-onset Pompe disease. Neuromuscul Disord (2009) 0.87
The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease. Am J Med Genet C Semin Med Genet (2012) 0.83
Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study. J Inherit Metab Dis (2011) 0.78
Two new missense mutations of GAA in late onset glycogen storage disease type II. J Neurol Sci (2006) 0.75
How common is misdiagnosis in late-onset Pompe disease? Muscle Nerve (2012) 0.75
MicroRNA miR-199a* regulates the MET proto-oncogene and the downstream extracellular signal-regulated kinase 2 (ERK2). J Biol Chem (2008) 2.28
Chemical modification of siRNAs to improve serum stability without loss of efficacy. Biochem Biophys Res Commun (2006) 1.63
Systemic Trans-splicing adeno-associated viral delivery efficiently transduces the heart of adult mdx mouse, a model for duchenne muscular dystrophy. Hum Gene Ther (2009) 1.53
Long-term therapy with clevudine for chronic hepatitis B can be associated with myopathy characterized by depletion of mitochondrial DNA. Hepatology (2009) 1.32
Adeno-associated virus serotype 6 capsid tyrosine-to-phenylalanine mutations improve gene transfer to skeletal muscle. Hum Gene Ther (2010) 1.26
Transduction efficiency and immune response associated with the administration of AAV8 vector into dog skeletal muscle. Mol Ther (2008) 1.21
An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed. Lab Invest (2010) 1.20
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. J Clin Neurol (2009) 1.13
Body distribution of inhaled fluorescent magnetic nanoparticles in the mice. J Occup Health (2008) 1.10
AAV-microdystrophin therapy improves cardiac performance in aged female mdx mice. Mol Ther (2011) 1.08
Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles. J Hum Genet (2005) 1.06
Age-matched comparison reveals early electrocardiography and echocardiography changes in dystrophin-deficient dogs. Neuromuscul Disord (2011) 1.04
Whole body skeletal muscle transduction in neonatal dogs with AAV-9. Methods Mol Biol (2011) 1.03
Induction of growth arrest by miR-542-3p that targets survivin. FEBS Lett (2010) 1.02
Differences between the measured and calculated free serum phenytoin concentrations in epileptic patients. Yonsei Med J (2009) 1.02
AAV micro-dystrophin gene therapy alleviates stress-induced cardiac death but not myocardial fibrosis in >21-m-old mdx mice, an end-stage model of Duchenne muscular dystrophy cardiomyopathy. J Mol Cell Cardiol (2012) 1.00
Regulation of Polo-like kinase 1 by DNA damage in mitosis. Inhibition of mitotic PLK-1 by protein phosphatase 2A. J Biol Chem (2006) 0.99
Prognosis of ocular myasthenia in Korea: a retrospective multicenter analysis of 202 patients. J Neurol Sci (2008) 0.95
Long-term robust myocardial transduction of the dog heart from a peripheral vein by adeno-associated virus serotype-8. Hum Gene Ther (2013) 0.93
Immune activation by siRNA/liposome complexes in mice is sequence- independent: lack of a role for Toll-like receptor 3 signaling. Mol Cells (2007) 0.93
Outbreak of sudden cardiac deaths in a tire manufacturing facility: can it be caused by nanoparticles? Saf Health Work (2012) 0.93
Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation. J Neurol Sci (2011) 0.93
Differential immunohistological features of inflammatory myopathies and dysferlinopathy. J Korean Med Sci (2009) 0.93
Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita. J Korean Med Sci (2009) 0.93
Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy. Neuromuscul Disord (2012) 0.92
Phenotypic variability in Kennedy's disease: implication of the early diagnostic features. Acta Neurol Scand (2005) 0.92
The evolution of heart gene delivery vectors. J Gene Med (2011) 0.92
Serum BAFF expression in patients with myasthenia gravis. J Neuroimmunol (2008) 0.90
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family. Arch Neurol (2011) 0.90
Dystrophin deficiency compromises force production of the extensor carpi ulnaris muscle in the canine model of Duchenne muscular dystrophy. PLoS One (2012) 0.90
Acute pulmonary toxicity and body distribution of inhaled metallic silver nanoparticles. Toxicol Res (2012) 0.90
Insulin resistance is independently associated with peripheral and autonomic neuropathy in Korean type 2 diabetic patients. Acta Diabetol (2010) 0.90
Heterogeneous characteristics of Korean patients with dysferlinopathy. J Korean Med Sci (2012) 0.89
Dual knockdown of p65 and p50 subunits of NF-kappaB by siRNA inhibits the induction of inflammatory cytokines and significantly enhance apoptosis in human primary synoviocytes treated with tumor necrosis factor-alpha. Mol Biol Rep (2007) 0.87
Prediction of early clinical severity and extent of neuronal damage in anterior-circulation infarction using the initial serum neuron-specific enolase level. Arch Neurol (2003) 0.87
Elevated serum level of interleukin-32α in the patients with myasthenia gravis. J Neurol (2011) 0.87
Comparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication. J Clin Neurol (2012) 0.86
Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy. Yonsei Med J (2011) 0.86
Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations. J Neurol Sci (2012) 0.86
Treatment of spontaneous cervical spinal subdural hematoma with methylprednisolone pulse therapy. Yonsei Med J (2011) 0.86
Inhaled fluorescent magnetic nanoparticles induced extramedullary hematopoiesis in the spleen of mice. J Occup Health (2009) 0.85
Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy. J Korean Med Sci (2011) 0.85
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. Hum Mutat (2011) 0.84
A case of Lambert-Eaton myasthenic syndrome associated with atypical bronchopulmonary carcinoid tumor. J Korean Med Sci (2004) 0.84
Hemimacropsia after medial temporo-occipital infarction. J Neurol Neurosurg Psychiatry (2007) 0.84
Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B. J Korean Med Sci (2004) 0.84
Clinical characteristics and outcomes of juvenile and adult dermatomyositis. J Korean Med Sci (2009) 0.84
Association between survivor motor neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population. Ann Clin Lab Sci (2010) 0.84
Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy. Neuromuscul Disord (2012) 0.84
AsiDesigner: exon-based siRNA design server considering alternative splicing. Nucleic Acids Res (2008) 0.83
iNOS ablation does not improve specific force of the extensor digitorum longus muscle in dystrophin-deficient mdx4cv mice. PLoS One (2011) 0.83
The prevalence of thyrotoxicosis-related seizures. Thyroid (2010) 0.83
Inhibition of cell proliferation and migration by miR-509-3p that targets CDK2, Rac1, and PIK3C2A. Mol Cells (2014) 0.82
NUDT15 variant is the most common variant associated with thiopurine-induced early leukopenia and alopecia in Korean pediatric patients with Crohn's disease. Eur J Gastroenterol Hepatol (2016) 0.81
Pneumomediastinum due to intractable hiccup as the presenting symptom of multiple sclerosis. Yonsei Med J (2005) 0.81
A case of adult-onset centronuclear myopathy. Yonsei Med J (2004) 0.81
The expression of BAFF in the muscles of patients with dermatomyositis. J Neuroimmunol (2012) 0.81
Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy. J Korean Med Sci (2007) 0.81
Serum and cerebrospinal fluid neuron-specific enolase for diagnosis of tuberculous meningitis. Yonsei Med J (2012) 0.81
Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance. Yonsei Med J (2006) 0.80
A framework for monitoring the malaria eradication programme in Korea. Asia Pac J Public Health (2003) 0.80
Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2. Neurol Sci (2013) 0.80
A novel PYGM mutation in a Korean patient with McArdle disease: the role of nonsense-mediated mRNA decay. Neuromuscul Disord (2008) 0.79
Chronic inflammatory demyelinating polyradiculoneuropathy in children: characterized by subacute, predominantly motor dominant polyeuropathy with a favorable response to the treatment. Acta Neurol Scand (2009) 0.79
Recombinant adeno-associated virus type 8-mediated extensive therapeutic gene delivery into skeletal muscle of alpha-sarcoglycan-deficient mice. Hum Gene Ther (2008) 0.78
Electrophysiological characteristics of six mutations in hClC-1 of Korean patients with myotonia congenita. Mol Cells (2014) 0.78
CCR2-64I and CCR5Delta32 Polymorphisms in Korean Patients with Myasthenia Gravis. J Clin Neurol (2007) 0.78
Limb-girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations. Muscle Nerve (2012) 0.78
Serum neuron-specific enolase level as a biomarker in differential diagnosis of seizure and syncope. J Neurol (2010) 0.78
Becker muscular dystrophy with r(X) carrying an out-of-frame DMD deletion. Pediatr Neurol (2008) 0.78
Homozygous SMN2 deletion is a major risk factor among twenty-five Korean sporadic amyotrophic lateral sclerosis patients. Yonsei Med J (2012) 0.78
Serotonin transporter gene polymorphism and migraine in the Korean population. Headache (2005) 0.78
Characterizing paramagnetic signal in a patient with Wilson's disease by susceptibility-weighted imaging. Clin Neurol Neurosurg (2011) 0.77
SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia. J Clin Neurol (2011) 0.77
A case of congenital neuromuscular disease with uniform type 1 fiber. Yonsei Med J (2004) 0.77
Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy. Yonsei Med J (2013) 0.77
Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A. Neurol Sci (2015) 0.77
MuSK antibody-positive, seronegative myasthenia gravis in Korea. J Clin Neurosci (2006) 0.77
Fluid-attenuated inversion recovery hyperintense vessels in posterior cerebral artery infarction. Cerebrovasc Dis Extra (2013) 0.77
Rebound upbeat nystagmus after lateral gaze in episodic ataxia type 2. Cerebellum (2014) 0.77
Acute pure motor demyelinating neuropathy with hyperreflexia and anti-GalNAc-GD1a antibodies. Clin Neurol Neurosurg (2012) 0.77
Nigropallidal iron accumulation in pantothenate kinase-associated neurodegeneration demonstrated by susceptibility-weighted imaging. J Neurol (2009) 0.76
Clinical and electromyographic features of radiation-induced lower cranial neuropathy. Clin Neurophysiol (2012) 0.76
A recurrent longitudinally extensive transverse myelitis with Aquaporin-4(AQP4) antibody after herpes zoster. J Neurol Sci (2013) 0.75
Clinical heterogeneity in Korean patients with nemaline myopathy. Yonsei Med J (2010) 0.75
The assessment of routine electroencephalography in patients with altered mental status. Yonsei Med J (2011) 0.75
Facial Diplegia in Plasmodium vivax Malaria. J Clin Neurol (2010) 0.75