| Interleukin-36–receptor antagonist deficiency and generalized pustular psoriasis S Marrakchi, P Guigue, BR Renshaw, A Puel, XY Pei, S Fraitag, J Zribi, ... New England Journal of Medicine 365 (7), 620-628, 2011 | 1046 | 2011 |
| Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases C Cluzeau, S Hadj‐Rabia, M Jambou, S Mansour, P Guigue, S Masmoudi, ... Human mutation 32 (1), 70-72, 2011 | 350 | 2011 |
| Microarray expression analysis and identification of serum biomarkers for Niemann–Pick disease, type C1 CVM Cluzeau, DE Watkins-Chow, R Fu, B Borate, N Yanjanin, MK Dail, ... Human molecular genetics 21 (16), 3632-3646, 2012 | 134 | 2012 |
| Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus E Bal, L Baala, C Cluzeau, F El Kerch, K Ouldim, S Hadj‐Rabia, ... Human Mutation 28 (7), 703-709, 2007 | 115 | 2007 |
| Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight SM Cologna, XS Jiang, PS Backlund, CVM Cluzeau, MK Dail, ... PloS one 7 (10), e47845, 2012 | 93 | 2012 |
| Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1 SM Cologna, CVM Cluzeau, NM Yanjanin, PS Blank, MK Dail, S Siebel, ... Journal of inherited metabolic disease 37, 83-92, 2014 | 85 | 2014 |
| Father‐to‐daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5′ untranslated region of the NIPBL Gene G Borck, M Zarhrate, C Cluzeau, E Bal, JP Bonnefont, A Munnich, ... Human mutation 27 (8), 731-735, 2006 | 77 | 2006 |
| Necroptosis in Niemann–Pick disease, type C1: a potential therapeutic target A Cougnoux, C Cluzeau, S Mitra, R Li, I Williams, K Burkert, X Xu, ... Cell death & disease 7 (3), e2147-e2147, 2016 | 62 | 2016 |
| Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes KR Francis, AN Ton, Y Xin, PE O'Halloran, CA Wassif, N Malik, ... Nature medicine 22 (4), 388-396, 2016 | 59 | 2016 |
| Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds WC Tseng, HE Loeb, W Pei, CH Tsai-Morris, L Xu, CV Cluzeau, ... Disease models & mechanisms 11 (9), dmm034165, 2018 | 39 | 2018 |
| Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene H Mégarbané, C Cluzeau, C Bodemer, S Fraïtag, M Chababi‐Atallah, ... American Journal of Medical Genetics Part A 146 (20), 2657-2662, 2008 | 34 | 2008 |
| The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation C Cluzeau, S Hadj‐Rabia, E Bal, F Clauss, A Munnich, C Bodemer, ... British journal of dermatology 166 (3), 678-681, 2012 | 31 | 2012 |
| Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases N Chassaing, C Cluzeau, E Bal, P Guigue, MC Vincent, G Viot, D Ginisty, ... British Journal of Dermatology 162 (5), 1044-1048, 2010 | 30 | 2010 |
| Defective cytochrome P450-catalysed drug metabolism in Niemann-Pick type C disease ER Nicoli, N Al Eisa, CVM Cluzeau, CA Wassif, J Gray, KR Burkert, ... PLoS One 11 (3), e0152007, 2016 | 29 | 2016 |
| Identification of novel pathways associated with patterned cerebellar purkinje neuron degeneration in niemann-pick disease, type C1 KB Martin, IM Williams, CV Cluzeau, A Cougnoux, RK Dale, JR Iben, ... International Journal of Molecular Sciences 21 (1), 292, 2019 | 24 | 2019 |
| Gastrointestinal tract pathology in a Balb/c Niemann–Pick disease type C1 null mouse model A Cougnoux, M Movassaghi, JA Picache, JR Iben, F Navid, A Salman, ... Digestive diseases and sciences 63, 870-880, 2018 | 10 | 2018 |
| First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasia. C Cluzeau, S Marrakchi, C Picard, A Munnich, A Smahi, H Turki Journal of the European Academy of Dermatology & Venereology 33 (2), 2019 | 6 | 2019 |
| Identification of two novel biomarkers for niemann-pick disease type c FD Porter III, CVM Cluzeau, DE Watkins-Chow, CA Wassif, WJ Pavan US Patent App. 14/365,398, 2014 | 2 | 2014 |
| Modeling Smith-Lemli-Opitz syndrome with iPS cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes KR Francis, AN Ton, Y Xin, PE O’Halloran, CA Wassif, N Malik, ... Nature medicine 22 (4), 388, 2016 | 1 | 2016 |
| A homozygous mutation of IL36RN gene leads to interleukin-36 receptor antagonist deficiency and causes generalized pustular psoriasis S Marrakchi, P Guigue, B Renshaw, A Puel, XY Pei, S Fraitag, J Zribi, ... BRITISH JOURNAL OF DERMATOLOGY 165 (6), E2-E2, 2011 | 1 | 2011 |
Michelle K Dail PeiflyПотвърден имейл адрес: pitt.edu
