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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
Nature Communications
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
Stem Cell Research
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
Neurology Genetics
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
Cell Reports
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
Immunity
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
Scientific Reports
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
Human Molecular Genetics
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
Human Molecular Genetics
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
Experimental Neurology
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
Molecular Neurobiology
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