Browsing by Author 박형준

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Showing results 1 to 25 of 25

Issue DateTitleAuthor(s)Type
2015A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy구혜수; 우소연; 정성철; 박형준Article
2015A Pediatric Case of Neuromyelitis Optica Spectrum Disorder: Atypical Clinical Presentation like Multiphasic Demyelinating Encephalomyelitis박기덕; 박형준Meeting Abstract
2017A Pediatric Case of Seronegative Neuromyelitis Optica박기덕; 박형준Meeting Abstract
2016ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy유정현; 정성철; 박형준Article
2014Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy박형준Article
2018Clinical and pathologic findings of korean patients with ryr1-related congenital myopathy박형준Article
2016Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations박기덕; 박형준Article
2017Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1박형준Article
2016Clinical Usefulness of Ultrasonography-Guided Laryngeal Electromyography정성민; 유정현; 김한수; 박형준; 정수연Article
2017Clinical, pathologic, and genetic features of collagen VI-related myopathy in Korea박형준Article
2017Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders박기덕; 박형준Article
2017Distal myopathy with ADSSL1 mutations in Korean patients박기덕; 박형준Article
2017Early-onset LMNA-associated muscular dystrophy with later involvement of contracture박형준Article
2016First identification of compound heterozygous FKRP mutations in a Korean patient with limb-girdle muscular dystrophy박형준Letter
2017Laryngeal myofascial pain syndrome as a new diagnostic entity of dysphonia정성민; 박기덕; 유정현; 김한수; 배하석; 박형준; 정수연Article
2015Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumetal muscular dystrophy type 1박형준Article
2015Molecular genetic diagnosis of a bethlem myopathy family with an autosomal-dominant COL6A1 mutation, as evidenced by exome sequencing박형준Article
2018Myasthenia gravis seronegative for acetylcholine receptor antibodies in South Korea: Autoantibody profiles and clinical features박형준Article
2018Partial conduction block as an early nerve conduction finding in neurolymphomatosis박기덕; 박형준Article
2016Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V구혜수; 박기덕; 이지은; 박형준Letter
2015Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy박형준Article
2017Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population박형준Article
2014The role of insulin resistance in diabetic neuropathy in Koreans with type 2 diabetes mellitus: A 6-year follow-up study박형준Article
2014The Significance of Clinical and Laboratory Features in the Diagnosis of Glycogen Storage Disease Type V: A Case Report박형준Article
2015The usefulness of proximal radial motor conduction in acute compressive radial neuropathy박기덕; 박형준Article

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