S. Park

发表

Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism

S. Paek, B. Jeon, J. Kim, 2009, Neurology.

Germline mutations and genotype–phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea

S.H. Choi, M. Seong, E. Ku, 2014, Clinical genetics.

EXTRAPYRAMIDAL SIGNS ARE A COMMON FEATURE OF SPINOCEREBELLAR ATAXIA TYPE 17

S. Y. Kim, B. Jeon, H. Kim, 2009, Neurology.

Transcriptome correlation analysis identifies two unique craniosynostosis subtypes associated with IRS1 activation.

B. Mecham, L. Mangravite, R. Beyer, 2012, Physiological genomics.

Dopa-responsive dystonia: a syndrome of selective nigrostriatal dopamine deficiency.

J. Jeong, M. C. Lee, S. Park, 1998, Advances in neurology.

Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.

P. Stankiewicz, K. Walz, M. Khajavi, 2003, Cold Spring Harbor symposia on quantitative biology.

The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP.

P. Stankiewicz, J. Lupski, K. Inoue, 2001, Genome research.

Mitochondrial DNA content is decreased in autosomal dominant optic atrophy

M. Seong, Jeong-Min Hwang, H. Ko, 2005, Neurology.

Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early‐onset Parkinson disease

M. Seong, H. Ko, B. Jeon, 2012, Clinical genetics.

Biochemistry, Cytogenetics and DMD Gene Mutations in South Indian Patients with Duchenne Muscular Dystrophy

M. Kumar, R. Cacabelos, B. Balasubramanian, 2017 .

A SPONTANEOUS DELETION OF β33/34 Val IN EXON 2 OF THE β GLOBIN GENE (Hb KOREA) PRODUCES THE PHENOTYPE OF DOMINANT β THALASSAEMIA

D. Weatherall, R. Barnetson, S. Thein, 1991 .

A novel missense mutation in NR0B1 causes delayed‐onset primary adrenal insufficiency in adults

H. Gee, S. Park, Je Lee, 2017, Clinical genetics.

α-Synuclein gene duplication is present in sporadic Parkinson disease

B. Jeon, S. E. Kim, Dong Soo Lee, 2008, Neurology.

Deletion of SMN and NAIP genes in Korean patients with spinal muscular atrophy.

Y. Hwang, S. Shin, S. Park, 2000, Journal of Korean medical science.

Investigation of the association between 677C>T and 1298A>C 5,10-methylenetetra- hydrofolate reductase gene polymorphisms and normal-tension glaucoma

S. Woo, H. Ko, S. Park, 2009, Eye.

Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome

M. Seong, J. Ko, S. Park, 2015, Clinical genetics.

α-Synuclein gene duplication is present in sporadic Parkinson disease

K. Lohmann, C. Klein, J. Hagenah, 2008, Neurology.

Spinocerebellar ataxia type 2 in seven Korean families: CAG trinucleotide expansion and clinical characteristics.

B. Jeon, S. Shin, J. Y. Kim, 1999, Journal of Korean medical science.