Qualitative Insights into Key Angelman Syndrome Motor Related Concepts Reported by Caregivers—A Thematic Analysis of Semi-Structured Interviews

por Rogers, Miranda, Motola, Stéphane, Bechichi, Yacine, Cluzeau, Céline, Terray, Tanguy, Berent, Allyson, Panagoulias, Jennifer, Duis, Jessica, Eggenspieler, Damien, Servais, Laurent
Publicado 2023

Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1

por Martin, Kyle B., Williams, Ian M., Cluzeau, Celine V., Cougnoux, Antony, Dale, Ryan K., Iben, James R., Cawley, Niamh X., Wassif, Christopher A., Porter, Forbes D.
Publicado 2019

Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds

por Tseng, Wei-Chia, Loeb, Hannah E., Pei, Wuhong, Tsai-Morris, Chon-Hwa, Xu, Lisha, Cluzeau, Celine V., Wassif, Christopher A., Feldman, Benjamin, Burgess, Shawn M., Pavan, William J., Porter, Forbes D.
Publicado 2018

Quantitative Proteomic Analysis of Niemann-Pick Disease, Type C1 Cerebellum Identifies Protein Biomarkers and Provides Pathological Insight

por Cologna, Stephanie M., Jiang, Xiao-Sheng, Backlund, Peter S., Cluzeau, Celine V. M., Dail, Michelle K., Yanjanin, Nicole M., Siebel, Stephan, Toth, Cynthia L., Jun, Hyun-sik, Wassif, Christopher A., Yergey, Alfred L., Porter, Forbes D.
Publicado 2012

Modeling Smith-Lemli-Opitz syndrome with iPS cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes

por Francis, Kevin R., Ton, Amy N., Xin, Yao, O’Halloran, Peter E., Wassif, Christopher A., Malik, Nasir, Williams, Ian M., Cluzeau, Celine V., Trivedi, Niraj S., Pavan, William J., Cho, Wonhwa, Westphal, Heiner, Porter, Forbes D.
Publicado 2016

Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease

por Nicoli, Elena-Raluca, Al Eisa, Nada, Cluzeau, Celine V. M., Wassif, Christopher A., Gray, James, Burkert, Kathryn R., Smith, David A., Morris, Lauren, Cologna, Stephanie M., Peer, Cody J., Sissung, Tristan M., Uscatu, Constantin-Daniel, Figg, William D., Pavan, William J., Vite, Charles H., Porter, Forbes D., Platt, Frances M.
Publicado 2016