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Celine V. M. Cluzeau

Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
2011 · Slaheddine Marrakchi, Philippe Guigue, et al. · New England Journal of Medicine · 1,013
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Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
2010 · Céline Cluzeau, Smail Hadj-Rabia, et al. · Human Mutation · 322
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Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus
2007 · E. Bal, L. Baala, et al. · Human Mutation · 103
Microarray expression analysis and identification of serum biomarkers for Niemann–Pick disease, type C1
2012 · Celine V.M. Cluzeau, Dawn E. Watkins-Chow, et al. · Human Molecular Genetics · 94
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Human and mouse neuroinflammation markers in Niemann‐Pick disease, type C1
2013 · Stephanie M. Cologna, Celine V. M. Cluzeau, et al. · Journal of Inherited Metabolic Disease · 92
Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes
2016 · Kevin R Francis, Amy N Ton, et al. · Nature Medicine · 81
Quantitative Proteomic Analysis of Niemann-Pick Disease, Type C1 Cerebellum Identifies Protein Biomarkers and Provides Pathological Insight
2012 · Stephanie M. Cologna, Xiao-Sheng Jiang, et al. · PLoS ONE · 67
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Necroptosis in Niemann–Pick disease, type C1: a potential therapeutic target
2016 · A Cougnoux, C Cluzeau, et al. · Cell Death and Disease · 62
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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
2006 · Guntram Borck, Mohamed Zarhrate, et al. · Human Mutation · 62
Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds
2018 · Wei-Chia Tseng, Hannah E. Loeb, et al. · Disease Models & Mechanisms · 46
Mutations inEDARADDaccount for a small proportion of hypohidrotic ectodermal dysplasia cases: Novel mutation inEDARADDgene
2010 · N. Chassaing, C. Cluzeau, et al. · British Journal of Dermatology · 38
Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1
2019 · Kyle B. Martin, Ian M. Williams, et al. · International Journal of Molecular Sciences · 36
Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene
2008 · Hala Mégarbané, Céline Cluzeau, et al. · American Journal of Medical Genetics Part A · 33
Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease
2016 · Elena-Raluca Nicoli, Nada Al Eisa, et al. · PLoS ONE · 27
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The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation
2011 · C. Cluzeau, S. Hadj-Rabia, et al. · British Journal of Dermatology · 25
Gastrointestinal Tract Pathology in a BALB/c Niemann–Pick Disease Type C1 Null Mouse Model
2018 · Antony Cougnoux, Miyad Movassaghi, et al. · Digestive Diseases and Sciences · 13
First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasia
2018 · C. Cluzeau, S. Marrakchi, et al. · Journal of the European Academy of Dermatology and Venereology · 8
Stride-level measurement of gait as an early sensitive marker of disability progression in ambulatory patients with multiple sclerosis
2026 · Margaux Poleur, Barbara Willekens, et al. · EClinicalMedicine · 5
Digital Outcome Measure Assessing the Motor Function of Patients with Amyotrophic Lateral Sclerosis (P5-11.011)
2024 · Margaux Poleur, Ahmed Nemr, et al. · Neurology · 2
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Reliability and External Validity of Digital Passive Gait Tracking in MS (P6-6.008)
2024 · Margaux Poleur, Barbara Willekens, et al. · Neurology · 2
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2.34P Predicting the 95th centile stride velocity (SV95C) at 6-, 12-, 18-, and 24-months in steroid-treated boys with Duchenne muscular dystrophy
2026 · Georgia Stimpson, Guillaume Parinello, et al. · Neuromuscular Disorders
2.36P “Walk like an Egyptian” Comparing the natural history of Egyptian and European Duchenne muscular dystrophy patients in a prospective multicentre study
2026 · Sherry Kodsy, Areej Saleh, et al. · Neuromuscular Disorders
177PLongitudinal stride-level evaluation of ambulatory function with ankle wearable technology in ambulant DMD patients below 4 years old
2025 · M. Poleur, G. Parinello, et al. · Neuromuscular Disorders
414PFeasibility of using a wearable digital health technology sensor to assess ambulation in CMT and DM1
2025 · M. Poleur, S. Delstanche, et al. · Neuromuscular Disorders
Qualitative Insights into Key Angelman Syndrome Motor Related Concepts Reported by Caregivers—A Thematic Analysis of Semi-Structured Interviews
2023 · Miranda Rogers, Stéphane Motola, et al. · Children
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Works count: 29
Citation count: 2,131
H-index: 15
I10-index: 16
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