about
Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the diseaseRandomized Trial of Thymectomy in Myasthenia GravisThe TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.Genome-wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A, and Identification of ZBTB10 and Three Distinct HLA Associations.BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndromeNovel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences.Motor unit number estimation as a complementary test to routine electromyography in the diagnosis of amyotrophic lateral sclerosis.Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation.Amifampridine phosphate (Firdapse(®)) is effective and safe in a phase 3 clinical trial in LEMS.[Neurophysiological testing in myasthenia syndromes].Incidence of spinal muscular atrophy in Poland--more frequent than predicted?Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.Juvenile seropositive myasthenia gravis with anti-MuSK antibody after thymectomy.Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes.Effect of age and gender on the number of motor units in healthy subjects estimated by the multipoint incremental MUNE method.Dopa-responsive dystonia or early-onset Parkinson disease - Genotype-phenotype correlation.Electromyographic findings in sporadic inclusion body myositis.Abnormal spontaneous activity in primary myopathic disorders.Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare diseaseThe remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 geneBi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy
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Anna Kostera-Pruszczyk
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Anna Kostera-Pruszczyk
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Anna Kostera-Pruszczyk
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Anna Kostera-Pruszczyk
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Anna Kostera-Pruszczyk
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Anna Kostera-Pruszczyk
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Anna Kostera-Pruszczyk
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Anna Kostera-Pruszczyk
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Anna Kostera-Pruszczyk
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Anna Kostera-Pruszczyk
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Anna Agnieszka Kostera-Pruszczyk
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Anna Kostera-Pruszczyk
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Anna Kostera-Pruszczyk
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