Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1 von Cologna, Stephanie M., Cluzeau, Celine V. M., Yanjanin, Nicole M., Blank, Paul S., Dail, Michelle K., Siebel, Stephan, Toth, Cynthia L., Wassif, Christopher A., Lieberman, Andrew P., Porter, Forbes D.

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Microarray expression analysis and identification of serum biomarkers for Niemann―Pick disease, type C1 von CLUZEAU, Celine V. M, WATKINS-CHOW, Dawn E, PAVAN, William J, PORTER, Forbes D, RAO FU, BORATE, Bhavesh, YANJANIN, Nicole, DAIL, Michelle K, DAVIDSON, Cristin D, WALKLEY, Steven U, ORY, Daniel S, WASSIF, Christopher A

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Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight von 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

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

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

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

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

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Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases von Cluzeau, Céline, Hadj-Rabia, Smail, Jambou, Marguerite, Mansour, Sourour, Guigue, Philippe, Masmoudi, Sahben, Bal, Elodie, Chassaing, Nicolas, Vincent, Marie-Claire, Viot, Géraldine, Clauss, François, Manière, Marie-Cécile, Toupenay, Steve, Le Merrer, Martine, Lyonnet, Stanislas, Cormier-Daire, Valérie, Amiel, Jeanne, Faivre, Laurence, de Prost, Yves, Munnich, Arnold, Bonnefont, Jean-Paul, Bodemer, Christine, Smahi, Asma

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Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis von Marrakchi, Slaheddine, Guigue, Philippe, Renshaw, Blair R, Puel, Anne, Pei, Xue-Yuan, Fraitag, Sylvie, Zribi, Jihen, Bal, Elodie, Cluzeau, Céline, Chrabieh, Maya, Towne, Jennifer E, Douangpanya, Jason, Pons, Christian, Mansour, Sourour, Serre, Valérie, Makni, Hafedh, Mahfoudh, Nadia, Fakhfakh, Faiza, Bodemer, Christine, Feingold, Josué, Hadj-Rabia, Smail, Favre, Michel, Genin, Emmanuelle, Sahbatou, Mourad, Munnich, Arnold, Casanova, Jean-Laurent, Sims, John E, Turki, Hamida, Bachelez, Hervé, Smahi, Asma

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Qualitative Insights into Key Angelman Syndrome Motor Related Concepts Reported by Caregivers—A Thematic Analysis of Semi-Structured Interviews von Rogers, Miranda, Motola, Stéphane, Bechichi, Yacine, Cluzeau, Céline, Terray, Tanguy, Berent, Allyson, Panagoulias, Jennifer, Duis, Jessica, Eggenspieler, Damien, Servais, Laurent

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Gastrointestinal Tract Pathology in a BALB/c Niemann–Pick Disease Type C1 Null Mouse Model von Cougnoux, Antony, Movassaghi, Miyad, Picache, Jaqueline A., Iben, James R., Navid, Fatemeh, Salman, Alexander, Martin, Kyle, Farhat, Nicole Y., Cluzeau, Celine, Tseng, Wei-Chia, Burkert, Kathryn, Sojka, Caitlin, Wassif, Christopher A., Cawley, Niamh X., Bonnet, Richard, Porter, Forbes D.

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Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5′ untranslated region of the NIPBL Gene von Borck, Guntram, Zarhrate, Mohamed, Cluzeau, Céline, Bal, Elodie, Bonnefont, Jean-Paul, Munnich, Arnold, Cormier-Daire, Valérie, Colleaux, Laurence

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Digital Outcome Measure Assessing the Motor Function of Patients with Amyotrophic Lateral Sclerosis (P5-11.011) von Poleur, Margaux, Nemr, Ahmed, Bancel, Léopold, Parinello, Guillaume, Cluzeau, Céline, Bechichi, Yacine, Delstanche, Stephanie, Servais, Laurent

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Gastrointestinal track pathology in a Balb/c Niemann-Pick disease type C1 null mouse model von Cougnoux, Antony, Movassaghi, Miyad, Picache, Jaqueline A., Iben, James, Navid, Fatemeh, Salman, Alexander, Martin, Kyle, Farhat, Nicole, Cluzeau, Celine, Tseng, Wei-Cha, Burkert, Kathryn, Sojka, Caitlin, Wassif, Christopher A., Cawley, Niamh, Bonnet, Richard, Porter, Forbes

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Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene von Mégarbané, Hala, Cluzeau, Céline, Bodemer, Christine, Fraïtag, Sylvie, Chababi‐Atallah, Myrna, Mégarbané, André, Smahi, Asma

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Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/[beta]-catenin defects in neuronal cholesterol synthesis phenotypes von 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, bes D

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

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Reliability and External Validity of Digital Passive Gait Tracking in MS (P6-6.008) von Poleur, Margaux, Willekens, Barbara, Degos, Bertrand, Ricard, Damien, Van Pesch, Vincent, Tricot, Alexis, Médard, Laurie, Li, Hui, Lommers, Emilie, Michaud, Mona, Strijbos, Paul, Overell, James, Cluzeau, Céline, Eggenspieler, Damien, Servais, Laurent

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Crosstalk between NF-kappaB and Wnt/beta-catenin pathways involved in skin appendages development von Cluzeau, Celine, Mou, Chunyan, Fraitag, Sylvie, Bodemer, Christine, Munnich, Arnold, Courtois, Gilles, Etchevers, Heather, Headon, Denis J., Smahi, Asma

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Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5′ untranslated region of theNIPBL Gene von Borck, Guntram, Zarhrate, Mohamed, Cluzeau, Céline, Bal, Elodie, Bonnefont, Jean-Paul, Munnich, Arnold, Cormier-Daire, Valérie, Colleaux, Laurence

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