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Publication date Communities Collections Article title Author(s)
30 Jan 2020 BMRC Institute of Molecular and Cell Biology Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Meral Gunay-Aygun, Michael J. Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G. Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A. A. P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia C. Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M. Tamim, Mais O. Hashem, Moeenaldeen D. AlSayed, Maha M. Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A. H. Mahmoud, Eissa A. Faqeih, Ali Al Asmari, Sulwan M. Algain, Lamyaa A. Jad, Hesham M. Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E. Schultz-Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James C. Stewart, Adam Claridge-Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Bruno Reversade, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls
9 Aug 2019 BMRC Institute of Molecular and Cell Biology Generation of four H1 hESC sublines carrying a hemizygous knock-out/mutant MECP2 Ruizhu Zenga, Harwin Sidika, Kim S. Robinson, Franklin L. Zhong, Bruno Reversade, Mahmoud A. Pouladi
8 Jul 2019 BMRC Institute of Molecular and Cell Biology Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features Amin Ziaei, Xiaohong Xu, Leila Dehghani, Carine Bonnard, Andreas Zellner, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Christof Haffner, Bruno Reversade, Vahid Shaygannejad, Mahmoud A. Pouladi
26 Feb 2019 BMRC Institute of Molecular and Cell Biology Unbiased Profiling of Isogenic Huntington Disease hPSC-Derived CNS and Peripheral Cells Reveals Strong Cell-Type Specificity of CAG Length Effects Jolene Ooi, Sarah R. Langley, Xiaohong Xu, Kagistia H. Utami, Bernice Sim, Yihui Huang, Nathan P. Harmston, Yi Lin Tay, Amin Ziaei, Ruizhu Zeng, Donovan Low, Folefac Aminkeng, Radoslaw M. Sobota, Florent Ginhoux, Enrico Petretto, Mahmoud A. Pouladi
18 Jul 2017 BMRC Singapore Immunology Network Induced-Pluripotent-Stem-Cell-Derived Primitive Macrophages Provide a Platform for Modeling Tissue-Resident Macrophage Differentiation and Function. Tatsuya Kozaki, Kazuyuki Takata, Christopher Zhe Wei Lee, Morgane Sonia Thion, Masayuki Otsuka, Shawn Lim, Kagistia Hana Utami, Kerem Fidan, Dong Shin Park, Benoit Malleret, Svetoslav Chakarov, Peter See, Donovan Low, Gillian Low, Marta Garcia-Miralles, Ruizhu Zeng, Jinqiu Zhang, Chi Ching Goh, Ahmet Gul, Sandra Hubert, Bernett Lee, Jinmiao Chen, Ivy Low, Nurhidaya Binte Shadan, Josephine Lum, Tay Seok Wei, Esther Mok, Shohei Kawanishi, Yoshihisa Kitamura, Anis Larbi, Michael Poidinger, Laurent Renia, Lai Guan Ng, Yochai Wolf, Steffen Jung, Tamer O¨ nder, Evan Newell, Tara Huber, Eishi Ashihara, Sonia Garel, Mahmoud A. Pouladi, Florent Ginhoux
16 Aug 2016 BMRC Translational Laboratory in Genetic Medicine Laquinimod rescues striatal, cortical and white matter pathology and results in modest behavioural improvements in the YAC128 model of Huntington disease Marta Garcia-Miralles, Xin Hong, Liang Juin Tan, Nicholas S. Caron, Yihui Huang, Xuan Vinh To, Rachel Yanping Lin, Sonia Franciosi, Spyros Papapetropoulos, Liat Hayardeny, Michael R. Hayden, Kai-Hsiang Chuang, Mahmoud A. Pouladi
28 Apr 2016 BMRC Translational Laboratory in Genetic Medicine Structural and molecular myelination deficits occur prior to neuronal loss in the YAC128 and BACHD models of Huntington disease Reshmi Rajendran, Arianna Novati, Carsten Calaminus, Olaf Riess, Michael R. Hayden, Huu P. Nguyen, Roy Tang Yi Teo, Xin Hong, Libo Yu-Taeger, Yihui Huang, Liang Juin Tan, Yuanyun Xie, Xuan Vinh To, Ling Guo, Kai-Hsiang Chuang, Mahmoud A. Pouladi
11 Feb 2016 BMRC Translational Laboratory in Genetic Medicine Interactome network analysis identifies multiple caspase-6 interactors involved in the pathogenesis of HD Dagmar E. Ehrnhoefer, Jenny Russ, Sean-Patrick Riechers, Stefanie Butland, Yu Deng, Niels Skotte, Jean Laine, Melissa Laroche, Mahmoud A. Pouladi, Erich E. Wanker, Michael R. Hayden, Rona K. Graham
26 Jan 2016 BMRC Translational Laboratory in Genetic Medicine Treatment with the MAO-A inhibitor clorgyline elevates monoamine neurotransmitter levels and improves affective phenotypes in a mouse model of Huntington disease Marta Garcia-Miralles, Jolene Ooi, Costanza Ferrari Bardile, Liang Juin Tan, Maya George, Chester L. Drum, Rachel Yanping Lin, Michael R. Hayden, Mahmoud A. Pouladi
15 Nov 2014 BMRC Translational Laboratory in Genetic Medicine Inhibition of Excessive Monoamine Oxidase A/B Activity Protects Against Stress-induced Neuronal Death in Huntington Disease Jolene Ooi, Michael R. Hayden, Mahmoud A. Pouladi
11 Aug 2014 BMRC Translational Laboratory in Genetic Medicine Preclinical models: needed in translation? A Pro/Con debate Thomas Philips, Jeffrey D. Rothstein, Mahmoud A. Pouladi