Detalhe da pesquisa
1.
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Clin Genet
; 97(4): 586-594, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32020600
2.
Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance.
Muscle Nerve
; 60(6): 668-672, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31498906
3.
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
Ann Neurol
; 82(3): 466-478, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28856709
4.
Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.
Muscle Nerve
; 58(3): 381-388, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29406609
5.
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
Muscle Nerve
; 55(5): 727-734, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27593222
6.
GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.
Am J Med Genet A
; 170(8): 2200-5, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27232954
7.
Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.
Am J Med Genet A
; 170(11): 3023-3027, 2016 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27411168
8.
Proteomics analysis of rough endoplasmic reticulum in pancreatic beta cells.
Proteomics
; 15(9): 1508-11, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25546123
9.
Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.
Epileptic Disord
; 16(4): 449-55, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25498131
10.
Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.
Pediatr Int
; 56(6): e88-e91, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25521991
11.
Down-regulation of microglial activity attenuates axotomized nigral dopaminergic neuronal cell loss.
BMC Neurosci
; 14: 112, 2013 Oct 04.
Artigo
Inglês
| MEDLINE | ID: mdl-24093518
12.
Endoplasmic reticulum factor ERLIN2 regulates cytosolic lipid content in cancer cells.
Biochem J
; 446(3): 415-25, 2012 Sep 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22690709
13.
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
Ann Lab Med
; 43(3): 280-289, 2023 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36544340
14.
Oncogenic signaling pathways and hallmarks of cancer in Korean patients with acral melanoma.
Comput Biol Med
; 154: 106602, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36716688
15.
Lysophosphatidylcholine inhibits membrane-associated SNARE complex disassembly.
J Cell Mol Med
; 16(8): 1701-8, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21883893
16.
Water channels in platelet volume regulation.
J Cell Mol Med
; 16(4): 945-9, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21692982
17.
3D organization and function of the cell: Golgi budding and vesicle biogenesis to docking at the porosome complex.
Histochem Cell Biol
; 137(6): 703-18, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22527693
18.
Therapeutic effects of TM4SF5-targeting chimeric and humanized monoclonal antibodies in hepatocellular and colon cancer models.
Mol Ther Oncolytics
; 24: 452-466, 2022 Mar 17.
Artigo
Inglês
| MEDLINE | ID: mdl-35211652
19.
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
Front Genet
; 13: 990015, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36212160
20.
Involvement of ß-adrenergic receptor in synaptic vesicle swelling and implication in neurotransmitter release.
J Cell Mol Med
; 15(3): 572-6, 2011 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-20132410