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An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18)

Scientific reports, 2020-02, Vol.10 (1), p.3295-3295, Article 3295

2020

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Therapeutic potential of the mitochondria-targeted antioxidant MitoQ in mitochondrial-ROS induced sensorineural hearing loss caused by Idh2 deficiency

Redox biology, 2019-01, Vol.20, p.544-555

2019

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Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS

Genes & Genomics, 2023, 45(2), , pp.225-230

2023

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Targeted Gene Delivery into the Mammalian Inner Ear Using Synthetic Serotypes of Adeno-Associated Virus Vectors

Molecular therapy. Methods & clinical development, 2019-06, Vol.13, p.197-204

2019

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Phenotype of the Aging-Dependent Spontaneous Onset of Hearing Loss in DBA/2 Mice

Veterinary sciences, 2021-03, Vol.8 (3), p.49

2021

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Sharp-NeRF: Grid-based Fast Deblurring Neural Radiance Fields using Sharpness Prior

2024 IEEE/CVF Winter Conference on Applications of Computer Vision (WACV), 2024, p.3697-3706

2024

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Therapeutic effect of intraperitoneal dexamethasone on noise-induced permanent threshold shift in mice model

Experimental brain research, 2024, Vol.242 (1), p.257-265

2024

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Effective PEI-mediated delivery of CRISPR-Cas9 complex for targeted gene therapy

Nanomedicine, 2018-10, Vol.14 (7), p.2095-2102

2018

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Identification of an in-frame homozygous KIF1A variant causing a mild SPG30 phenotype in a Korean family

Gene, 2023-06, Vol.870, p.147403-147403, Article 147403

2023

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Masked Wavelet Representation for Compact Neural Radiance Fields

2023 IEEE/CVF Conference on Computer Vision and Pattern Recognition (CVPR), 2023, p.20680-20690

2023

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A novel REEP1 splicing mutation with broad clinical variability in a family with hereditary spastic paraplegia

Gene, 2021-01, Vol.765, p.145129-145129, Article 145129

2021

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Evaluating protective and therapeutic effects of alpha-lipoic acid on cisplatin-induced ototoxicity

Cell death & disease, 2018-08, Vol.9 (8), p.827-13, Article 827

2018

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Methionine Sulfoxide Reductase B3-Targeted In Utero Gene Therapy Rescues Hearing Function in a Mouse Model of Congenital Sensorineural Hearing Loss

Antioxidants & redox signaling, 2016-04, Vol.24 (11), p.590-602

2016

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A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation

Gene, 2019-07, Vol.705, p.177-180

2019

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Modified U1 snRNA and antisense oligonucleotides rescue splice mutations in SLC26A4 that cause hereditary hearing loss

Human mutation, 2019-08, Vol.40 (8), p.1172-1180, Article humu.23774

2019

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Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing

Gene, 2017-09, Vol.627, p.233-238

2017

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Exocyst Complex Member EXOC5 Is Required for Survival of Hair Cells and Spiral Ganglion Neurons and Maintenance of Hearing

Molecular neurobiology, 2018-08, Vol.55 (8), p.6518-6532

2018

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349. AAV-Mediated In Utero Gene Therapy To Treat Genetic Hearing Loss

Molecular therapy, 2015-05, Vol.23, p.S139-S139

2015

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Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome

Gene, 2016-02, Vol.576 (2), p.776-781

2016

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Correction to: Exocyst Complex Member EXOC5 Is Required for Survival of Hair Cells and Spiral Ganglion Neurons and Maintenance of Hearing

Molecular neurobiology, 2019-03, Vol.56 (3), p.2300-2300

2019

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A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome

International journal of pediatric otorhinolaryngology, 2014-11, Vol.78 (11), p.1996-1999

2014

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Methionine Sulfoxide Reductase A, B1 and B2 Are Likely to Be Involved in the Protection against Oxidative Stress in the Inner Ear

Cells, tissues, organs, 2014-01, Vol.199 (4), p.294-300

2014

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A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia

Journal of genetic medicine, 2015-06, Vol.12 (1), p.57-60

2015

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PIXEL: Physics-Informed Cell Representations for Fast and Accurate PDE Solvers

Proceedings of the ... AAAI Conference on Artificial Intelligence, 2023-06, Vol.37 (7), p.8186-8194

2023

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28-GHz CMOS Direct-Conversion RF Transmitter with Precise and Wide-Range Mismatch Calibration Techniques

Electronics (Basel), 2022-03, Vol.11 (6), p.840

2022

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An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18)

Therapeutic potential of the mitochondria-targeted antioxidant MitoQ in mitochondrial-ROS induced sensorineural hearing loss caused by Idh2 deficiency

Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS

Targeted Gene Delivery into the Mammalian Inner Ear Using Synthetic Serotypes of Adeno-Associated Virus Vectors

Phenotype of the Aging-Dependent Spontaneous Onset of Hearing Loss in DBA/2 Mice

Sharp-NeRF: Grid-based Fast Deblurring Neural Radiance Fields using Sharpness Prior

Therapeutic effect of intraperitoneal dexamethasone on noise-induced permanent threshold shift in mice model

Effective PEI-mediated delivery of CRISPR-Cas9 complex for targeted gene therapy

Identification of an in-frame homozygous KIF1A variant causing a mild SPG30 phenotype in a Korean family

Masked Wavelet Representation for Compact Neural Radiance Fields

A novel REEP1 splicing mutation with broad clinical variability in a family with hereditary spastic paraplegia

Evaluating protective and therapeutic effects of alpha-lipoic acid on cisplatin-induced ototoxicity

Methionine Sulfoxide Reductase B3-Targeted In Utero Gene Therapy Rescues Hearing Function in a Mouse Model of Congenital Sensorineural Hearing Loss

A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation

Modified U1 snRNA and antisense oligonucleotides rescue splice mutations in SLC26A4 that cause hereditary hearing loss

Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing

Exocyst Complex Member EXOC5 Is Required for Survival of Hair Cells and Spiral Ganglion Neurons and Maintenance of Hearing

349. AAV-Mediated In Utero Gene Therapy To Treat Genetic Hearing Loss

Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome

Correction to: Exocyst Complex Member EXOC5 Is Required for Survival of Hair Cells and Spiral Ganglion Neurons and Maintenance of Hearing

A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome

Methionine Sulfoxide Reductase A, B1 and B2 Are Likely to Be Involved in the Protection against Oxidative Stress in the Inner Ear

A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia

PIXEL: Physics-Informed Cell Representations for Fast and Accurate PDE Solvers

28-GHz CMOS Direct-Conversion RF Transmitter with Precise and Wide-Range Mismatch Calibration Techniques

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