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1دورية أكاديمية
المؤلفون: Madrange, M.1 (AUTHOR), Rossignol, J.1,2 (AUTHOR), Devin, C.1 (AUTHOR), Bekel, L.3 (AUTHOR), Bellon, N.3 (AUTHOR), Welfringer‐Morin, A.3 (AUTHOR), Méni, C.3 (AUTHOR), Bonigen, J.3 (AUTHOR), Bataille, P.3 (AUTHOR), Burdet, C.4 (AUTHOR), Agopian, J.5,6 (AUTHOR), Dubreuil, P.5,6 (AUTHOR), Hermine, O.1,2,6 (AUTHOR), Bodemer, C.1,3 (AUTHOR), Polivka, L.1,3 (AUTHOR) laura.polivka@aphp.fr
المصدر: Allergy. Jun2024, p1. 4p. 2 Charts.
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2دورية أكاديمية
المؤلفون: Rossignol, J., Canioni, D., Aouba, A., Bulai-Livideanu, C., Barete, S., Lancesseur, C., Polivka, L., Madrange, M., Ballul, T., Neuraz, A., Greco, C., Agopian, J., Brenet, F., Dubreuil, P., Lemal, R., Tournilhac, O., Terriou, Louis, Launay, David, Bouillet, L., Gourguechon, C., Frenzel, L., Meni, C., Gaudy-Marqueste, C., Gousseff, M., Le Mouel, E., Hamidou, M., Neel, A., Ranta, D., Jaussaud, R., Guilpain, P., Molina, T. J., Bruneau, J., Lhermitte, L., Garcelon, N., Javier, R. M., Pelletier, F., Castelain, F., Retornaz, F., Cabrera, Q., Zunic, P., Gourin, M. P., Wierzbicka-Hainaut, E., Viallard, J. F., Lavigne, C., Hoarau, C., Durieu, I., Heiblig, M., Dimicoli-Salazar, S., Torregrosa-Diaz, J. M., Soria, A., Arock, M., Lortholary, O., Bodemer, C., Pol, S., Mallet, V., Hermine, O., Damaj, G.
المساهمون: Université de Lille, Inserm, CHU Lille, Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286
مصطلحات موضوعية: advanced systemic mastocytosis, fibrosis, liver, mast cells, nodular regenerative hyperplasia, portal hypertension
العلاقة: Liver Int; http://hdl.handle.net/20.500.12210/114096Test
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3دورية أكاديميةBi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
المؤلفون: Cabrera-Serrano, M, Caccavelli, L, Savarese, M, Vihola, A, Jokela, M, Johari, M, Capiod, T, Madrange, M, Bugiardini, E, Brady, S, Quinlivan, R, Merve, A, Scalco, R, Hilton-Jones, D, Houlden, H, Ibrahim Aydin, H, Ceylaner, S, Vockley, J, Taylor, RL, Folland, C, Kelly, A, Goullee, H, Ylikallio, E, Auranen, M, Tyynismaa, H, Udd, B, Forrest, ARR, Davis, MR, Bratkovic, D, Manton, N, Robertson, T, McCombe, P, Laing, NG, Phillips, L, de Lonlay, P, Ravenscroft, G
المصدر: Brain , 145 (11) pp. 3985-3998. (2022)
مصطلحات موضوعية: Rhabdomyolysis, hyperCKaemia, myalgia, exercise intolerance, obscurin
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10141366/1/awab484.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10141366Test/
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4دورية أكاديمية
المؤلفون: Devin, C., Moulin, D., Rossignol, J., Madrange, M., Agopian, J., Liévin, R., Isnard, P., Dubreuil, P., Bodemer, C., Hermine, O., Polivka, L.
المصدر: Annales de Dermatologie et de Vénéréologie - FMC ; volume 3, issue 8, page A48-A49 ; ISSN 2667-0623
مصطلحات موضوعية: General Medicine
الإتاحة: https://doi.org/10.1016/j.fander.2023.09.022Test
https://api.elsevier.com/content/article/PII:S2667062323003008?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2667062323003008?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Sbidian, E., Madrange, M., Viguier, M., Salmona, M., Duchatelet, S., Hovnanian, A., Smahi, A., Le Goff, J., Bachelez, H.
المصدر: British Journal of Dermatology ; volume 181, issue 6, page 1304-1306 ; ISSN 0007-0963 1365-2133
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6دورية أكاديمية
المؤلفون: Pelosi M., Testet E., Le Lay S., Dugail I., Tang X., Mabilleau G., Hamel Y., Madrange M., Blanc T., Odent T., McMullen T. P. W., Alfo' M., Brindley D. N., De Lonlay P.
المساهمون: Pelosi, M., Testet, E., Le Lay, S., Dugail, I., Tang, X., Mabilleau, G., Hamel, Y., Madrange, M., Blanc, T., Odent, T., Mcmullen, T. P. W., Alfo', M., Brindley, D. N., De Lonlay, P.
مصطلحات موضوعية: adipocyte, adipogenic differentiation, gene expression, human fat lipid analysi, human lipid, Inborn errors of metabolism, lipodystrophie, phosphatases/lipid, adipose tissue, adolescent, allele, body fat distribution, body weight, case-control studie, cell differentiation, child, preschool, female, gene expression regulation, human, male, middle aged, PPAR gamma, peroxisome proliferator-activated receptor gamma coactivator 1-alpha, phosphatidate phosphatase, rhabdomyolysi, sterol regulatory element binding protein 1, mutation
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28986436; info:eu-repo/semantics/altIdentifier/wos/WOS:000416963900010; volume:58; issue:12; firstpage:2348; lastpage:2364; numberofpages:17; journal:JOURNAL OF LIPID RESEARCH; http://hdl.handle.net/11573/1553278Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85036582052
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7دورية أكاديمية
المؤلفون: Habarou, F., Hamel, Y., Haack, T.B., Feichtinger, R.G., Lebigot, E., Marquardt, I., Busiah, K., Laroche, C., Madrange, M., Grisel, C., Pontoizeau, C., Eisermann, M., Boutron, A., Chrétien, D., Chadefaux-Vekemans, B., Barouki, R., Bole-Feysot, C., Nitschke, P., Goudin, N., Boddaert, N., Nemazanyy, I., Delahodde, A., Kölker, S., Rodenburg, R.J., Korenke, G.C., Meitinger, T., Strom, T.M., Prokisch, H., Rotig, A., Ottolenghi, C., Mayr, J.A., de Lonlay, P.
المصدر: Am. J. Hum. Genet. 101, 283-290 (2017)
مصطلحات موضوعية: Lipt2, Encephalopathy, Hyperglycinemia, Lipoic Acid, Metabolic Flux, Pyruvate Dehydrogenase, α-oxoglutarate Dehydrogenase
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28757203; info:eu-repo/semantics/altIdentifier/wos/WOS:000406854800012; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=51648Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605
الإتاحة: https://doi.org/10.1016/j.ajhg.2017.07.001Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=51648Test -
8دورية أكاديمية
المؤلفون: Le Gall, C., Puca, L., Madrange, M., Bal, E., choukair, z, Hamel, Y., Fraitag, S., Brou, C., Bachelez, H., Smahi, A.
المصدر: Journal of Investigative Dermatology ; volume 137, issue 10, page S226 ; ISSN 0022-202X
مصطلحات موضوعية: Cell Biology, Dermatology, Molecular Biology, Biochemistry
الإتاحة: https://doi.org/10.1016/j.jid.2017.07.196Test
https://api.elsevier.com/content/article/PII:S0022202X17320614?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022202X17320614?httpAccept=text/plainTest -
9دورية أكاديميةBi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
المؤلفون: Cabrera-Serrano, M., Caccavelli, L., Savarese, M., Vihola, A., Jokela, M., Johari, M., Capiod, T., Madrange, M., Bugiardini, E., Brady, S., Quinlivan, R., Merve, A., Scalco, R., Hilton-Jones, D., Houlden, H., Aydin, H.I., Ceylaner, S., Drewes, S., Vockley, J., Taylor, R.L.
مصطلحات موضوعية: rhabdomyolysis, hyperCKaemia, myalgia, exercise intolerance, obscurin, Sarcoplasmic Reticulum, Humans, Calcium, Loss of Heterozygosity, Adolescent, Rho Guanine Nucleotide Exchange Factors, Protein Serine-Threonine Kinases
العلاقة: http://purl.org/au-research/grants/nhmrc/1122952Test; http://purl.org/au-research/grants/nhmrc/1117510Test; http://purl.org/au-research/grants/nhmrc/1154524Test; Brain: a journal of neurology, 2022; 145(11):3985-3998; https://hdl.handle.net/2440/137139Test
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10دورية أكاديمية
المؤلفون: Polivka, L., Rossignol, J., Madrange, M., Agopian, J., Frenzel, L., Méni, C., Bulai Livideanu, C., Barete, S., Arock, M., Dubreuil, P., Hermine, O., Bodemer, C.
المصدر: Annales de Dermatologie et de Vénéréologie - FMC ; volume 2, issue 8, page A58-A59 ; ISSN 2667-0623
مصطلحات موضوعية: Ocean Engineering, Safety, Risk, Reliability and Quality
الإتاحة: https://doi.org/10.1016/j.fander.2022.09.052Test
https://api.elsevier.com/content/article/PII:S2667062322003269?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2667062322003269?httpAccept=text/plainTest