Nonconvulsive Status Epilepticus in Children: Clinical and EEG Characteristics von Tay, Stacey K.H., Hirsch, Lawrence J., Leary, Linda, Jette, Nathalie, Wittman, John, Akman, Cigdem I.

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Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV von Akman, H. Orhan, Sheiko, Tatiana, Tay, Stacey K.H., Finegold, Milton J., DiMauro, Salvatore, Craigen, William J.

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Impaired Development of Neural-Crest Cell-Derived Organs and Intellectual Disability Caused by MED13L Haploinsufficiency von Utami, Kagistia Hana, Winata, Cecilia Lanny, Hillmer, Axel M., Aksoy, Irene, Long, Hoang Truong, Liany, Herty, Chew, Elaine G. Y., Mathavan, Sinnakaruppan, Tay, Stacey K. H., Korzh, Vladimir, Sarda, Pierre, Davila, Sonia, Cacheux, Valere

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CISH and Susceptibility to Infectious Diseases von Khor, Chiea C, Vannberg, Fredrik O, Chapman, Stephen J, Guo, Haiyan, Wong, Sunny H, Walley, Andrew J, Vukcevic, Damjan, Rautanen, Anna, Mills, Tara C, Chang, Kwok-Chiu, Kam, Kai-Man, Crampin, Amelia C, Ngwira, Bagrey, Leung, Chi-Chiu, Tam, Cheuk-Ming, Chan, Chiu-Yeung, Sung, Joseph J.Y, Yew, Wing-Wai, Toh, Kai-Yee, Tay, Stacey K.H, Kwiatkowski, Dominic, Lienhardt, Christian, Hien, Tran-Tinh, Day, Nicholas P, Peshu, Nobert, Marsh, Kevin, Maitland, Kathryn, Scott, J. Anthony, Williams, Thomas N, Berkley, James A, Floyd, Sian, Tang, Nelson L.S, Fine, Paul E.M, Goh, Denise L.M, Hill, Adrian V.S

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Identification of the first COG–CDG patient of Indian origin von Ng, Bobby G., Sharma, Vandana, Sun, Liangwu, Loh, Eva, Hong, Wanjin, Tay, Stacey K.H., Freeze, Hudson H.

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Mild Neurological Manifestations Associated With Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Hospitalized Children During the Omicron Wave in Singapore: A Retrospe... von Han, Velda X, Seet, Shannon M, Quek, Belinda X Y, Lin, Jeremy B, Wang, Furene S, Tay, Stacey K H, Leow, Olivia, Aoyama, Rie, Chan, Si Min

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Evidence for inefficient contraction and abnormal mitochondrial activity in sarcopenia using magnetic resonance spectroscopy von Stephenson, Mary C., Ho, Jamie X.M., Migliavacca, Eugenia, Kalimeri, Maria, Karnani, Neerja, Banerji, Subhasis, Totman, John J., Feige, Jerome N., Merchant, Reshma A., Tay, Stacey K.H.

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Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR von Liu, Timing, Wang, Furene S., Cheah, Felicia S.H., Gu, Yanghong, Shaw, Marie, Law, Hai-Yang, Tay, Stacey K.H., Lee, Caroline G., Nelson, David L., Gecz, Jozef, Chong, Samuel S.

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Myotoxicity of Lipid-Lowering Agents in a Teenager With MELAS Mutation von Tay, Stacey K.H., MBBS, DiMauro, Salvatore, MD, PhD, Pang, Aileen Y.W., Dip, Lai, Poh-San, PhD, Yap, Hui-Kim, MBBS, MMed

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Trigonelline is an NAD+ precursor that improves muscle function during ageing and is reduced in human sarcopenia von Membrez, Mathieu, Migliavacca, Eugenia, Christen, Stefan, Yaku, Keisuke, Trieu, Jennifer, Lee, Alaina K., Morandini, Francesco, Giner, Maria Pilar, Stiner, Jade, Makarov, Mikhail V., Garratt, Emma S., Vasiloglou, Maria F., Chanvillard, Lucie, Dalbram, Emilie, Ehrlich, Amy M., Sanchez-Garcia, José Luis, Canto, Carles, Karagounis, Leonidas G., Treebak, Jonas T., Migaud, Marie E., Heshmat, Ramin, Razi, Farideh, Karnani, Neerja, Ostovar, Afshin, Farzadfar, Farshad, Tay, Stacey K. H., Sanders, Matthew J., Lillycrop, Karen A., Godfrey, Keith M., Nakagawa, Takashi, Moco, Sofia, Koopman, René, Lynch, Gordon S., Sorrentino, Vincenzo, Feige, Jerome N.

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Current strategies in management of Duchenne muscular dystrophy: allowing patients to live with hope von Tay, Stacey K H, Lin, Jeremy B Y

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Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials von Nurputra, Dian K., Lai, Poh San, Harahap, Nur Imma F., Morikawa, Satoru, Yamamoto, Tomoto, Nishimura, Noriyuki, Kubo, Yuji, Takeuchi, Atsuko, Saito, Toshio, Takeshima, Yasuhiro, Tohyama, Yumi, Tay, Stacey KH, Low, Poh Sim, Saito, Kayoko, Nishio, Hisahide

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Factors predictive of outcome in childhood stroke in an Asian population von Tham, Elizabeth H, Tay, Stacey K H, Low, Poh Sim

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Elevated Thyroid Peroxidase Antibodies with Encephalopathy in MELAS Syndrome von Chan, Derrick W.S., BMBS, Lim, C.C. Tchoyoson, MBBS, Tay, Stacey K.H., MBBS, Choong, Chew-Thye, MBBS, Phuah, Huan Kee, MBBS

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Clinical and Genetic Features in Two Families With MELAS and the T3271C Mutation in Mitochondrial DNA von Tay, Stacey K. H., Shanske, Sara, Crowe, Carol, Shanske, Alan, Schafer, Irwin, Pancrudo, Jacklyn, Jiesheng Lu, Bonilla, Eduardo, DiMauro, Salvatore

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Mitochondrial oxidative capacity and NAD+ biosynthesis are reduced in human sarcopenia across ethnicities von Migliavacca, Eugenia, Tay, Stacey K. H., Patel, Harnish P., Sonntag, Tanja, Civiletto, Gabriele, McFarlane, Craig, Forrester, Terence, Barton, Sheila J., Leow, Melvin K., Antoun, Elie, Charpagne, Aline, Seng Chong, Yap, Descombes, Patrick, Feng, Lei, Francis-Emmanuel, Patrice, Garratt, Emma S., Giner, Maria Pilar, Green, Curtis O., Karaz, Sonia, Kothandaraman, Narasimhan, Marquis, Julien, Metairon, Sylviane, Moco, Sofia, Nelson, Gail, Ngo, Sherry, Pleasants, Tony, Raymond, Frederic, Sayer, Avan A., Ming Sim, Chu, Slater-Jefferies, Jo, Syddall, Holly E., Fang Tan, Pei, Titcombe, Philip, Vaz, Candida, Westbury, Leo D., Wong, Gerard, Yonghui, Wu, Cooper, Cyrus, Sheppard, Allan, Godfrey, Keith M., Lillycrop, Karen A., Karnani, Neerja, Feige, Jerome N.

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Detection of hemi/homozygotes through heteroduplex formation in high-resolution melting analysis von Cheng, Jinting, Yim, Onn-Siong, Low, Poh-Sim, Tay, Stacey K.H., Yap, Eric P.H., Lai, Poh-San

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Clinical and Biochemical Characterization of a Patient with Congenital Disorder of Glycosylation (CDG) IIx von Miura, Yoshiaki, Tay, Stacey K.H., Aw, Marion M., Eklund, Erik A., Freeze, Hudson H.

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Chronic Phenobarbital-Induced Mitochondrial Pleomorphism in the Rat Liver von Almsherqi, Zakaria, Mclachlan, Craig Steven, Tay, Stacey K. H., Deng, Yuru

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Chronic Phenobarbital-Induced Mitochondrial Pleomorphism in the Rat Liver von ALMSHERQI, Zakaria, MCLACHLAN, Craig Steven, TAY, Stacey K. H, DENG, Yuru

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