2015 | A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy | 구혜수; 우소연; 정성철; 박형준 | Article |
2015 | A Pediatric Case of Neuromyelitis Optica Spectrum Disorder: Atypical Clinical Presentation like Multiphasic Demyelinating Encephalomyelitis | 박기덕; 박형준 | Meeting Abstract |
2017 | A Pediatric Case of Seronegative Neuromyelitis Optica | 박기덕; 박형준 | Meeting Abstract |
2016 | ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy | 유정현; 정성철; 박형준 | Article |
2014 | Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy | 박형준 | Article |
2018 | Clinical and pathologic findings of korean patients with ryr1-related congenital myopathy | 박형준 | Article |
2016 | Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations | 박기덕; 박형준 | Article |
2017 | Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1 | 박형준 | Article |
2016 | Clinical Usefulness of Ultrasonography-Guided Laryngeal Electromyography | 정성민; 유정현; 김한수; 박형준; 정수연 | Article |
2017 | Clinical, pathologic, and genetic features of collagen VI-related myopathy in Korea | 박형준 | Article |
2017 | Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders | 박기덕; 박형준 | Article |
2017 | Distal myopathy with ADSSL1 mutations in Korean patients | 박기덕; 박형준 | Article |
2017 | Early-onset LMNA-associated muscular dystrophy with later involvement of contracture | 박형준 | Article |
2016 | First identification of compound heterozygous FKRP mutations in a Korean patient with limb-girdle muscular dystrophy | 박형준 | Letter |
2017 | Laryngeal myofascial pain syndrome as a new diagnostic entity of dysphonia | 정성민; 박기덕; 유정현; 김한수; 배하석; 박형준; 정수연 | Article |
2015 | Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumetal muscular dystrophy type 1 | 박형준 | Article |
2015 | Molecular genetic diagnosis of a bethlem myopathy family with an autosomal-dominant COL6A1 mutation, as evidenced by exome sequencing | 박형준 | Article |
2018 | Myasthenia gravis seronegative for acetylcholine receptor antibodies in South Korea: Autoantibody profiles and clinical features | 박형준 | Article |
2018 | Partial conduction block as an early nerve conduction finding in neurolymphomatosis | 박기덕; 박형준 | Article |
2016 | Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V | 구혜수; 박기덕; 이지은; 박형준 | Letter |
2015 | Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy | 박형준 | Article |
2017 | Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population | 박형준 | Article |
2014 | The role of insulin resistance in diabetic neuropathy in Koreans with type 2 diabetes mellitus: A 6-year follow-up study | 박형준 | Article |
2014 | The Significance of Clinical and Laboratory Features in the Diagnosis of Glycogen Storage Disease Type V: A Case Report | 박형준 | Article |
2015 | The usefulness of proximal radial motor conduction in acute compressive radial neuropathy | 박기덕; 박형준 | Article |