المؤلفون: Langhammer, F, Maroofian, R, Badar, R, Gregor, A, Rochman, M, Ratliff, JB, Koopmans, M, Herget, T, Hempel, M, Kortüm, F, Heron, D, Mignot, C, Keren, B, Brooks, S, Botti, C, Ben-Zeev, B, Argilli, E, Sherr, EH, Gowda, VK, Srinivasan, VM, Bakhtiari, S, Kruer, MC, Salih, MA, Kuechler, A, Muller, EA, Blocker, K, Kuismin, O, Park, KL, Kochhar, A, Brown, K, Ramanathan, S, Clark, RD, Elgizouli, M, Melikishvili, G, Tabatadze, N, Stark, Z, Mirzaa, GM, Ong, J, Grasshoff, U, Bevot, A, von Wintzingerode, L, Jamra, RA, Hennig, Y, Goldenberg, P, Al Alam, C, Charif, M, Boulouiz, R, Bellaoui, M, Amrani, R, Al Mutairi, F, Tamim, AM, Abdulwahab, F, Alkuraya, FS, Khouj, EM, Alvi, JR, Sultan, T, Hashemi, N, Karimiani, EG, Ashrafzadeh, F, Imannezhad, S, Efthymiou, S, Houlden, H, Sticht, H, Zweier, C

المصدر: Genetics in Medicine , 25 (8) , Article 100885. (2023)

مصطلحات موضوعية: Developmental and epileptic encephalopathy, Intellectual disability, Neurodevelopmental disorder, RHOBTB2, Seizures

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10173027/1/RHOBTB_manuscript_230331_without%20trackchanges.docx.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10173027Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10173027/1/RHOBTB_manuscript_230331_without%20trackchanges.docx.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10173027Test/

المؤلفون: El Charif, M. Hadi, Tarhini, Hawraa, Dushfunian, David, Al Harake, Hassan, Khasawneh, Hala, Abi Saad, George, Khalife, Mohamad, Sbaity, Eman

المصدر: Annals of Medicine & Surgery ; volume 85, issue 4, page 1258-1261 ; ISSN 2049-0801

الإتاحة: https://doi.org/10.1097/ms9.0000000000000491Test

المؤلفون: Charif, M. C.

مصطلحات موضوعية: [PHYS:ASTR:HE] Physics/Astrophysics/High Energy Astrophysical Phenomena, [PHYS:ASTR:HE] Physique/Astrophysique/Phénomènes cosmiques de haute energie, [SDU:ASTR:HE] Sciences of the Universe/Astrophysics/High Energy Astrophysical Phenomena, [SDU:ASTR:HE] Planète et Univers/Astrophysique/Phénomènes cosmiques de haute energie, Antares, Astroparticules, Neutrinos

الإتاحة: http://tel.archives-ouvertes.fr/tel-00975918Test
http://tel.archives-ouvertes.fr/docs/00/97/59/18/PDF/PhDThesis_Charif.pdfTest

المؤلفون: Fahim, N., Prada, F., Kneib, J. P., Sánchez, J., Hórler, P., Azzaro, M., Becerril, S., Bleuler, H., Bouri, M., Castano, J., Garrido, J., Gillet, D., Glez-de-Rivera, G., Gómez, C., Gómez, M. A., Gonzalez-Arroyo, A., Jenni, L., Makarem, L., Yepes, G., Arrillaga, X., Carrera, MA., Diego, R., Charif, M., Hug, M., Lachat, C.

مصطلحات موضوعية: Astrophysics - Instrumentation and Methods for Astrophysics, Astrophysics - Cosmology and Nongalactic Astrophysics

الوصول الحر: http://arxiv.org/abs/1410.4722Test

المؤلفون: de Monvel, A. Boutet, Charif, M., Zielinski, L.

المصدر: St. Petersburg Mathematical Journal; 4/12/2024, Vol. 35 Issue 1, p61-82, 22p

المؤلفون: Ter Schiphorst, A., Duflos, C., Mourand, I., Gaillard, N., Dargazanli, C., Corti, L., Prin, P., Lippi, A., Ayrignac, X., Charif, M., Wacongne, A., Bouly, S., Lalu, T., Sablot, D., Blanchet-Fourcade, G., Landragin, N., Jacob, F., Sayad, C., Derraz, I., Cagnazzo, F., Lefevre, P.-H., Gascou, G., Beaufils, O., Costalat, V., Arquizan, C.

المصدر: Revue Neurologique ; volume 178, issue 6, page 558-568 ; ISSN 0035-3787

مصطلحات موضوعية: Neurology (clinical), Neurology

الإتاحة: https://doi.org/10.1016/j.neurol.2021.11.001Test
https://api.elsevier.com/content/article/PII:S0035378721007633?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0035378721007633?httpAccept=text/plainTest

المؤلفون: Charif M., Chevrollier A., Gueguen N., Bris C., Goudenege D., Desquiret-Dumas V., Leruez S., Colin E., Meunier A., Vignal C., Smirnov V., Defoort-Dhellemmes S., Drumare Bouvet I., Goizet C., Votruba M., Jurkute N., Yu-Wai-Man P., Tagliavini F., Caporali L., La Morgia C., Carelli V., Procaccio V., Zanlonghi X., Meunier I., Reynier P., Bonneau D., Amati-Bonneau P., Lenaers G.

المساهمون: Charif M., Chevrollier A., Gueguen N., Bris C., Goudenege D., Desquiret-Dumas V., Leruez S., Colin E., Meunier A., Vignal C., Smirnov V., Defoort-Dhellemmes S., Drumare Bouvet I., Goizet C., Votruba M., Jurkute N., Yu-Wai-Man P., Tagliavini F., Caporali L., La Morgia C., Carelli V., Procaccio V., Zanlonghi X., Meunier I., Reynier P., Bonneau D., Amati-Bonneau P., Lenaers G.

مصطلحات موضوعية: DOA, AFG3L2, SPG7, optic atrophy

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32548275; info:eu-repo/semantics/altIdentifier/wos/WOS:000549921400011; volume:6; issue:3; firstpage:1; lastpage:10; numberofpages:10; journal:NEUROLOGY. GENETICS; https://hdl.handle.net/11585/794081Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85093931635; https://ng.neurology.org/content/6/3/e428Test

الإتاحة: https://doi.org/10.1212/NXG.0000000000000428Test
https://hdl.handle.net/11585/794081Test
https://ng.neurology.org/content/6/3/e428Test

المؤلفون: Jurkute, N, Bertacchi, M, Arno, G, Tocco, C, Kim, US, Kruszewski, AM, Avery, RA, Bedoukian, EC, Han, J, Ahn, SJ, Pontikos, N, Acheson, J, Davagnanam, I, Bowman, R, Kaliakatsos, M, Gardham, A, Wakeling, E, Oluonye, N, Reddy, MA, Clark, E, Rosser, E, Amati-Bonneau, P, Charif, M, Lenaers, G, Meunier, I, Defoort, S, Vincent-Delorme, C, Robson, AG, Holder, GE, Jeanjean, L, Martinez-Monseny, A, Vidal-Santacana, M, Dominici, C, Gaggioli, C, Giordano, N, Caleo, M, Liu, GT, Genomics England Research Consortium, Webster, AR, Studer, M, Yu-Wai-Man, P

المصدر: Brain Communications , 3 (3) , Article fcab162. (2021)

مصطلحات موضوعية: BBSOAS, NR2F1, inherited optic neuropathy, mouse model, optic nerve head anomalies

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10135851/1/Jurkute_Pathogenic%20NR2F1%20variants%20cause%20a%20developmental%20ocular%20phenotype%20recapitulated%20in%20a%20mutant%20mouse%20model_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10135851Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10135851/1/Jurkute_Pathogenic%20NR2F1%20variants%20cause%20a%20developmental%20ocular%20phenotype%20recapitulated%20in%20a%20mutant%20mouse%20model_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10135851Test/

المؤلفون: Charif, M, Gueguen, N, Ferré, M, Elkarhat, Z, Khiati, S, LeMao, M, Chevrollier, A, Desquiret-Dumas, V, Goudenège, D, Bris, C, Kane, S, Alban, J, Chupin, S, Wetterwald, C, Caporali, L, Tagliavini, F, LaMorgia, C, Carbonelli, M, Jurkute, N, Barakat, A, Gohier, P, Verny, C, Barth, M, Procaccio, V, Bonneau, D, Zanlonghi, X, Meunier, I, Weisschuh, N, Schimpf-Linzenbold, S, Tonagel, F, Kellner, U, Yu-Wai-Man, P, Carelli, V, Wissinger, B, Amati-Bonneau, P, Reynier, P, European ION Group, ., Lenaers, G

المصدر: Brain Communications , 3 (2) , Article fcab063. (2021)

مصطلحات موضوعية: ACO2, Krebs cycle, aconitase 2, mitochondria, optic neuropathy

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10129233/1/fcab063.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10129233Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10129233/1/fcab063.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10129233Test/

المؤلفون: Charif, M, Chevrollier, A, Gueguen, N, Bris, C, Goudenège, D, Desquiret-Dumas, V, Leruez, S, Colin, E, Meunier, A, Vignal, C, Smirnov, V, Defoort-Dhellemmes, S, Drumare Bouvet, I, Goizet, C, Votruba, M, Jurkute, N, Yu-Wai-Man, P, Tagliavini, F, Caporali, L, La Morgia, C, Carelli, V, Procaccio, V, Zanlonghi, X, Meunier, I, Reynier, P, Bonneau, D, Amati-Bonneau, P, Lenaers, G

المصدر: Neurology Genetics , 6 (3) , Article e428. (2020)

مصطلحات موضوعية: Optic nerve, Mitochondrial disorders, Spinocerebellar ataxia, Visual loss

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10103658/1/Mutations%20in%20the%20m-AAA%20proteases%20AFG3L2%20and%20SPG7%20are%20causing%20isolated%20dominant%20optic%20atrophy.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10103658Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10103658/1/Mutations%20in%20the%20m-AAA%20proteases%20AFG3L2%20and%20SPG7%20are%20causing%20isolated%20dominant%20optic%20atrophy.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10103658Test/