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1دورية أكاديمية
المؤلفون: Miranda Rogers, Stéphane Motola, Yacine Bechichi, Céline Cluzeau, Tanguy Terray, Allyson Berent, Jennifer Panagoulias, Jessica Duis, Damien Eggenspieler, Laurent Servais
المصدر: Children, Vol 10, Iss 9, p 1462 (2023)
مصطلحات موضوعية: Angelman syndrome, qualitative research, patient-centered, Pediatrics, RJ1-570
وصف الملف: electronic resource
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المؤلفون: Asma Smahi, Arnold Munnich, Capucine Picard, Hamida Turki, Céline Cluzeau, Slaheddine Marrakchi
المصدر: Journal of the European Academy of Dermatology and Venereology. 33:e55-e57
مصطلحات موضوعية: Genetics, 030207 dermatology & venereal diseases, 03 medical and health sciences, Ectodermal dysplasia, 0302 clinical medicine, Infectious Diseases, business.industry, 030220 oncology & carcinogenesis, Medicine, Dermatology, business, medicine.disease, EDARADD gene
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المؤلفون: Ryan K. Dale, Forbes D. Porter, Christopher A. Wassif, Niamh X. Cawley, James R. Iben, Kyle Martin, Céline Cluzeau, Ian M. Williams, Antony Cougnoux
المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 21, Iss 1, p 292 (2019)
Volume 21
Issue 1مصطلحات موضوعية: 0301 basic medicine, Cerebellum, cerebellum, Mutant, Degeneration (medical), Biology, Article, Catalysis, lcsh:Chemistry, Purkinje neurons, Inorganic Chemistry, Mice, Purkinje Cells, 03 medical and health sciences, Niemann–Pick disease, 0302 clinical medicine, Gene expression, medicine, Animals, Physical and Theoretical Chemistry, lcsh:QH301-705.5, Molecular Biology, Gene, Spectroscopy, Mice, Knockout, WGCNA, Organic Chemistry, Neurodegeneration, neurodegeneration, Niemann-Pick Disease, Type C, General Medicine, medicine.disease, NPC1, Computer Science Applications, Cell biology, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, lcsh:Biology (General), lcsh:QD1-999, type C1, Gene Expression Regulation, nervous system, RNA-seq, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Wei-Chia Tseng, Shawn M. Burgess, Hannah E. Loeb, Christopher A. Wassif, William J. Pavan, Benjamin Feldman, Wuhong Pei, Forbes D. Porter, Lisha Xu, Céline Cluzeau, Chon-Hwa Tsai-Morris
المصدر: Disease Models & Mechanisms, Vol 11, Iss 9 (2018)
Disease Models & Mechanismsمصطلحات موضوعية: 0301 basic medicine, Lysosomal storage disorder, Drug Evaluation, Preclinical, Hepatosplenomegaly, lcsh:Medicine, Medicine (miscellaneous), Immunology and Microbiology (miscellaneous), hemic and lymphatic diseases, Lysosomal storage disease, Cognitive decline, Zebrafish, Neurons, biology, Liver Diseases, Neurodegeneration, Brain, Gene targeting, Niemann-Pick Disease, Type C, 2-Hydroxypropyl-beta-cyclodextrin, 3. Good health, Niemann-Pick disease type C1, Cholesterol, Liver, Drug screening, Larva, medicine.symptom, Liver disease, Research Article, lcsh:RB1-214, congenital, hereditary, and neonatal diseases and abnormalities, Neuroscience (miscellaneous), General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Niemann-Pick C1 Protein, In vivo, lcsh:Pathology, medicine, Animals, Alleles, Base Sequence, lcsh:R, Membrane Proteins, nutritional and metabolic diseases, Zebrafish Proteins, Zebra, biology.organism_classification, medicine.disease, Disease Models, Animal, 030104 developmental biology, Mutation, Cancer research, NPC1
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المؤلفون: Antony Cougnoux, Wei-Chia Tseng, Richard Bonnet, Alexander Salman, James R. Iben, Fatemeh Navid, Niamh X. Cawley, Céline Cluzeau, Kathryn R. Burkert, Kyle Martin, Caitlin Sojka, Christopher A. Wassif, Jaqueline A. Picache, Nicole Y. Farhat, M. Movassaghi, Forbes D. Porter
المساهمون: Microbes, Intestin, Inflammation et Susceptibilité de l'Hôte (M2iSH), Institut National de la Recherche Agronomique (INRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre de Recherche en Nutrition Humaine d'Auvergne (CRNH d'Auvergne), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), NMR Research Unit [London], Institute of Neurology [London], University College of London [London] (UCL)-University College of London [London] (UCL), Intramural research program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, Microbes, Intestin, Inflammation et Susceptibilité de l'Hôte - Clermont Auvergne (M2iSH), Institut National de la Recherche Agronomique (INRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA)-Centre de Recherche en Nutrition Humaine d'Auvergne (CRNH d'Auvergne)
المصدر: Digestive Diseases and Sciences
Digestive Diseases and Sciences, Springer Verlag, 2018, 63 (4), pp.870-880. ⟨10.1007/s10620-018-4914-x⟩
Digestive Diseases and Sciences, Springer Verlag, 2018, ⟨10.1007/s10620-018-4914-x⟩مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pathology, Physiology, Inflammation, Disease, Article, BALB/c, 03 medical and health sciences, Mice, 0302 clinical medicine, Crohn Disease, Internal medicine, hemic and lymphatic diseases, medicine, microbiota, Humans, Animals, Intestinal Mucosa, ComputingMilieux_MISCELLANEOUS, macrophage dysfunction, Niemann-Pick Diseases, Gastrointestinal tract, Mice, Inbred BALB C, Niemann–Pick disease, type C, Membrane Glycoproteins, biology, business.industry, Neurodegeneration, Gastroenterology, nutritional and metabolic diseases, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Niemann-Pick Disease, Type C, Hepatology, medicine.disease, biology.organism_classification, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, 3. Good health, Gastrointestinal Tract, Disease Models, Animal, 030104 developmental biology, Microbial Interactions, niemann-Pick disease type C, 030211 gastroenterology & hepatology, NPC1, medicine.symptom, business, Carrier Proteins
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المؤلفون: Céline Cluzeau, Paul S. Blank, Andrew P. Lieberman, Christopher A. Wassif, Stephan Siebel, Cynthia L. Toth, Michelle K. Dail, Stephanie M. Cologna, Forbes D. Porter, Nicole M. Yanjanin
المصدر: Journal of Inherited Metabolic Disease. 37:83-92
مصطلحات موضوعية: Male, Chemokine CXCL5, Pathology, Mice, Cerebellum, hemic and lymphatic diseases, Miglustat, Child, Genetics (clinical), Chemokine CCL3, Cerebral Cortex, Mice, Inbred BALB C, Brain, Interleukin, Niemann-Pick Disease, Type C, Complement C3, Child, Preschool, Female, lipids (amino acids, peptides, and proteins), medicine.symptom, Interleukin 16, Niemann–Pick disease, medicine.drug, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, 1-Deoxynojirimycin, Adolescent, CCL3, Mice, Transgenic, Inflammation, Biology, Article, Young Adult, Genetics, medicine, Animals, Humans, Alleles, Interleukin 4, Neuroinflammation, Interleukins, Infant, Newborn, Infant, nutritional and metabolic diseases, medicine.disease, Disease Models, Animal, Gene Expression Regulation, Immunology, Biomarkers
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المؤلفون: William J. Pavan, Tristan M. Sissung, Stephanie M. Cologna, William D. Figg, Kathryn R. Burkert, David Smith, Lauren Morris, C D Uscatu, Christopher A. Wassif, Nada Al Eisa, Charles H. Vite, Frances M. Platt, Cody J. Peer, Elena-Raluca Nicoli, James Gray, Céline Cluzeau, Forbes D. Porter
المصدر: PLoS ONE, Vol 11, Iss 3, p e0152007 (2016)
PLoS ONEمصطلحات موضوعية: 0301 basic medicine, Physiology, Microarrays, Enzyme Metabolism, Gene Expression, lcsh:Medicine, Pharmacology, Biochemistry, Mass Spectrometry, Mice, Cytochrome P-450 Enzyme System, Drug Metabolism, hemic and lymphatic diseases, Medicine and Health Sciences, Metabolites, Lysosomal storage disease, Bile, Enzyme Chemistry, lcsh:Science, Chromatography, High Pressure Liquid, Mice, Knockout, Mammals, Mice, Inbred BALB C, Multidisciplinary, Behavior, Animal, Bile acid, Ursodeoxycholic Acid, beta-Cyclodextrins, Intracellular Signaling Peptides and Proteins, Cytochrome P450 reductase, Niemann-Pick Disease, Type C, Animal Models, 2-Hydroxypropyl-beta-cyclodextrin, Body Fluids, 3. Good health, Bioassays and Physiological Analysis, Liver, Models, Animal, Vertebrates, Microsomes, Liver, Anatomy, Research Article, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, medicine.drug_class, Midazolam, Mouse Models, Biology, Real-Time Polymerase Chain Reaction, Research and Analysis Methods, 03 medical and health sciences, Model Organisms, Niemann-Pick C1 Protein, In vivo, Internal medicine, Genetics, medicine, Animals, Humans, Pharmacokinetics, Niemann–Pick disease, type C, lcsh:R, Organisms, Proteins, Biology and Life Sciences, Cytochrome P450, nutritional and metabolic diseases, medicine.disease, Metabolism, 030104 developmental biology, Endocrinology, Dietary Supplements, Amniotes, Cats, Enzymology, biology.protein, lcsh:Q, NPC1, Drug metabolism
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المؤلفون: Dawn E. Watkins-Chow, Steven U. Walkley, Rao Fu, Michelle K. Dail, Bhavesh Borate, Céline Cluzeau, Christopher A. Wassif, Nicole M. Yanjanin, William J. Pavan, Daniel S. Ory, Cristin Davidson, Forbes D. Porter
المصدر: Human Molecular Genetics. 21:3632-3646
مصطلحات موضوعية: Male, Adolescent, Galectin 3, Cathepsin D, Biology, Mice, Liver disease, Cytochrome P-450 Enzyme System, Niemann-Pick C1 Protein, Genetics, medicine, Animals, Humans, Child, Molecular Biology, Genetics (clinical), Niemann–Pick disease, type C, Microarray analysis techniques, beta-Cyclodextrins, Age Factors, Intracellular Signaling Peptides and Proteins, Infant, Proteins, Niemann-Pick Disease, Type C, Articles, General Medicine, Lipid Metabolism, Microarray Analysis, medicine.disease, Mice, Mutant Strains, 2-Hydroxypropyl-beta-cyclodextrin, Survival Rate, Disease Models, Animal, Liver, Galectin-3, Case-Control Studies, Child, Preschool, Immunology, Female, NPC1, Signal transduction, Transcriptome, Niemann–Pick disease, Biomarkers
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc844d33cf72692f09f097efb9fdc5db
https://doi.org/10.1093/hmg/dds193 -
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المؤلفون: Elodie Bal, Arnold Munnich, Céline Cluzeau, François Clauss, Christine Bodemer, Denis J. Headon, A. Smahi, Smail Hadj-Rabia
المصدر: British Journal of Dermatology. 166:678-681
مصطلحات موضوعية: Genetics, Mutation (genetic algorithm), medicine, Ectodysplasin A, Dermatology, Hypohidrotic ectodermal dysplasia, Allele, Biology, medicine.disease
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المؤلفون: Géraldine Viot, Nicolas Chassaing, Ginisty D, Philippe Guigue, A. Smahi, Céline Cluzeau, Arnold Munnich, Patrick Calvas, Elodie Bal, Marie-Claire Vincent
المصدر: British Journal of Dermatology. 162:1044-1048
مصطلحات موضوعية: Genetics, Ectodermal dysplasia, Mutation, EDARADD, business.industry, Eccrine sweat, Dermatology, medicine.disease, medicine.disease_cause, medicine, Ectodysplasin A, Functional studies, Hypohidrotic ectodermal dysplasia, business, Gene
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