Browsing "1. Journal Papers" by Identifier : 0960-8966

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Showing results 1 to 8 of 8

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Issue DateTitleJournal Title
2019Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathyNEUROMUSCULAR DISORDERS
2008Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2ANEUROMUSCULAR DISORDERS
2017Distal myopathy with ADSSL1 mutations in Korean patientsNEUROMUSCULAR DISORDERS
2015Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumeral muscular dystrophy type 1NEUROMUSCULAR DISORDERS
2018Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M: 30-month follow-up of seven patients.NEUROMUSCULAR DISORDERS
2015Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathyNEUROMUSCULAR DISORDERS
2017Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean populationNEUROMUSCULAR DISORDERS
2012Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathyNEUROMUSCULAR DISORDERS
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