Loss of zinc-finger protein 212 leads to Purkinje cell death and locomotive abnormalities with phospholipase D3 downregulation von Khang, Rin, Jo, Areum, Kang, Hojin, Kim, Hanna, Kwag, Eunsang, Lee, Ji-Yeong, Koo, Okjae, Park, Jinsu, Kim, Hark Kyun, Jo, Dong-Gyu, Hwang, Inwoo, Ahn, Jee-Yin, Lee, Yunjong, Choi, Jeong-Yun, Lee, Yun-Song, Shin, Joo-Ho

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Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing von Reyna-Fabián, Miriam E., Fernández-Hernández, Liliana, Enríquez-Flores, Sergio, Apam-Garduño, David, Prado-Larrea, Carolina, Seo, Go Hun, Khang, Rin, Cortés-González, Vianney

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alpha-Synuclein A53T Binds to Transcriptional Adapter 2-Alpha and Blocks Histone H3 Acetylation von Lee, Ji-Yeong, Kim, Hanna, Jo, Areum, Khang, Rin, Park, Chi-Hu, Park, Soo-Jeong, Kwag, Eunsang, Shin, Joo-Ho

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Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling von Chang, Yin-Hsi, Kang, Eugene Yu-Chuan, Liu, Laura, Jenny, Laura A, Khang, Rin, Seo, Go Hun, Lee, Hane, Chen, Kuan-Jen, Wu, Wei-Chi, Hsiao, Meng-Chang, Wang, Nan-Kai

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Whole exome sequencing identified five novel variants in CNTN2 , CARS2 , ARSA , and CLCN4 leading to epilepsy in consanguineous families von Abdulkareem, Angham Abdulrhman, Zaman, Qaiser, Khan, Hamza, Khan, Sabar, Rehman, Gauhar, Tariq, Nabeel, Ahmad, Mashal, Owais, Muhammad, Najumuddin, Muthaffar, Osama Yousef, Bibi, Fehmida, Khang, Rin, Ryu, Seung Woo, Naseer, Muhammad Imran, Jelani, Musharraf

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The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report von Sadek, Abdelrahim A, Aladawy, Mohammed A, Mansour, Tarek M. M, Sayed, Khulood M, Khang, Rin, Abdelkreem, Elsayed

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Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa von Chen, Nelson, Lee, Hane, Kim, Angela H, Liu, Pei-Kang, Kang, Eugene Yu-Chuan, Tseng, Yun-Ju, Seo, Go Hun, Khang, Rin, Liu, Laura, Chen, Kuan-Jen, Wu, We-Chi, Hsiao, Meng-Chang, Wang, Nan-Kai

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Activation of the ATF2/CREB-PGC-1α pathway by metformin leads to dopaminergic neuroprotection von Kang, Hojin, Khang, Rin, Ham, Sangwoo, Jeong, Ga Ram, Kim, Hyojung, Jo, Minkyung, Lee, Byoung Dae, Lee, Yun Il, Jo, Areum, Park, ChiHu, Kim, Hyein, Seo, Jeongkon, Paek, Sun Ha, Lee, Yun-Song, Choi, Jeong-Yun, Lee, Yunjong, Shin, Joo-Ho

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Identification of transketolase as a target of PARIS in substantia nigra von Kim, Hyein, Kang, Hojin, Lee, Yunjong, Park, Chi-Hu, Jo, Areum, Khang, Rin, Shin, Joo-Ho

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The biguanide metformin alters phosphoproteomic profiling in mouse brain von Khang, Rin, Park, ChiHu, Shin, Joo-Ho

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Whole exome sequencing in Serbian patients with hereditary spastic paraplegia von Brankovic, Marija, Ivanovic, Vukan, Basta, Ivana, Khang, Rin, Lee, Eugene, Stevic, Zorica, Ralic, Branislav, Tubic, Radoje, Seo, GoHun, Markovic, Vladana, Bozovic, Ivo, Svetel, Marina, Marjanovic, Ana, Veselinovic, Nikola, Mesaros, Sarlota, Jankovic, Milena, Savic-Pavicevic, Dusanka, Jovin, Zita, Novakovic, Ivana, Lee, Hane, Peric, Stojan

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PARIS reprograms glucose metabolism by HIF-1α induction in dopaminergic neurodegeneration von Kang, Hojin, Jo, Areum, Kim, Hyein, Khang, Rin, Lee, Ji-Yeong, Kim, Hanna, Park, Chi-Hu, Choi, Jeong-Yun, Lee, Yunjong, Shin, Joo-Ho

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TEK gene‐related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families von Chacon‐Camacho, Oscar Francisco, Ordaz‐Robles, Thania, Cid‐García, Marion Aline, Hofmann‐Blancas, María Enriqueta, Ledesma‐Gil, Jasbeth, García‐Huerta, María Magdalena, Prado‐Larrea, Carolina, Cortés‐González, Vianney, Lozano‐Garza, Rodrigo Isaac, García‐Vega, Daphne, Kim, JiHye, Khang, Rin, Lee, Eugene, Zenteno, Juan Carlos

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Diaminodiphenyl sulfone-induced parkin ameliorates age-dependent dopaminergic neuronal loss von Lee, Yun-Il, Kang, Hojin, Ha, Young Wan, Chang, Ki-Young, Cho, Sung-Chun, Song, Sang Ok, Kim, Hyein, Jo, Areum, Khang, Rin, Choi, Jeong-Yun, Lee, Yunjong, Park, Sang Chul, Shin, Joo-Ho

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Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing von Watson, Sonya, Ngo, Kathie J, Stevens, Hannah A, Wong, Darice Y, Kim, Jihye, Song, Yongjun, Han, Beomman, Hyun, Seong-In, Khang, Rin, Ryu, Seung Woo, Lee, Eugene, Seo, Gohun, Lee, Hane, Lajonchere, Clara, Fogel, Brent L

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Additional file 2 of Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa von Chen, Nelson, Lee, Hane, Kim, Angela H., Liu, Pei-Kang, Kang, Eugene Yu-Chuan, Tseng, Yun-Ju, Seo, Go Hun, Khang, Rin, Liu, Laura, Chen, Kuan-Jen, Wu, We-Chi, Hsiao, Meng-Chang, Wang, Nan-Kai

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Additional file 1 of Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa von Chen, Nelson, Lee, Hane, Kim, Angela H., Liu, Pei-Kang, Kang, Eugene Yu-Chuan, Tseng, Yun-Ju, Seo, Go Hun, Khang, Rin, Liu, Laura, Chen, Kuan-Jen, Wu, We-Chi, Hsiao, Meng-Chang, Wang, Nan-Kai

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