المؤلفون: Poncet, A.F., Grunewald, O., Vaclavik, V., Meunier, I., Drumare, I., Pelletier, V., Bocquet, B., Todorova, M.G., Le Moing, A.G., Devos, A., Schorderet, D.F., Jobic, F., Defoort-Dhellemmes, S., Dollfus, H., Smirnov, V.M., Dhaenens, C.M.

المصدر: International journal of molecular sciences, vol. 23, no. 8, pp. 4294

مصطلحات موضوعية: Exons/genetics, Homozygote, Humans, Membrane Transport Proteins/genetics, Mutation, Neuronal Ceroid-Lipofuscinoses/genetics, Retinal Dystrophies/genetics, MFSD8 gene, deep intronic variant, isolated macular dystrophy, neuronal ceroid lipofuscinosis, transcript analysis

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35457110; info:eu-repo/semantics/altIdentifier/eissn/1422-0067; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_5DA25ACED4D13; https://serval.unil.ch/notice/serval:BIB_5DA25ACED4D1Test; urn:issn:1422-0067; https://serval.unil.ch/resource/serval:BIB_5DA25ACED4D1.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5DA25ACED4D13Test

الإتاحة: https://doi.org/10.3390/ijms23084294Test
https://serval.unil.ch/notice/serval:BIB_5DA25ACED4D1Test
https://serval.unil.ch/resource/serval:BIB_5DA25ACED4D1.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5DA25ACED4D13Test

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: Nassisi, M, Smirnov, V, Hernandez, CS, Mohand-Saïd, S, Condroyer, C, Antonio, A, Kühlewein, L, Kempf, M, Kohl, S, Wissinger, B, Nasser, F, Ragi, SD, Wang, N-K, Sparrow, JR, Greenstein, V, Michalakis, S, Mahroo, O, Ba-Abbad, R, Michaelides, M, Webster, AR, Esposti, SD, Saffren, B, Capasso, J, Levin, A, Hauswirth, WW, Dhaenens, C-M, Defoort-Dhellemmes, S, Tsang, SH, Zrenner, E, Sahel, J-A, Petersen-Jones, S, Zeitz, C, Audo, I

المصدر: Human Mutation , 42 (6) pp. 641-666. (2021)

مصطلحات موضوعية: CNGB1, cyclic nucleotide-gated channel, genotype-phenotype correlation inherited retinal disease, retinitis pigmentosa, rod-cone dystrophy

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10125918/7/Mahroo_CNGB1-related%20rod-cone%20dystrophy-%20a%20mutation%20review%20and%20update_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10125918Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10125918/7/Mahroo_CNGB1-related%20rod-cone%20dystrophy-%20a%20mutation%20review%20and%20update_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10125918Test/

المؤلفون: Jarrett, C., Dhaenens, C.-M., Marks-Delesalle, C., Debruyne, P., Defoort-Dhellemmes, S., Smirnov, V.

المصدر: Journal Français d'Ophtalmologie ; volume 44, issue 9, page 1471-1473 ; ISSN 0181-5512

مصطلحات موضوعية: Ophthalmology

الإتاحة: https://doi.org/10.1016/j.jfo.2021.01.019Test
https://api.elsevier.com/content/article/PII:S0181551221003223?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0181551221003223?httpAccept=text/plainTest

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/

المؤلفون: Defoort-Dhellemmes, S.

المصدر: Journal Français d'Ophtalmologie ; volume 43, issue 6, page 548-549 ; ISSN 0181-5512

مصطلحات موضوعية: Ophthalmology

الإتاحة: https://doi.org/10.1016/j.jfo.2020.04.014Test
https://api.elsevier.com/content/article/PII:S0181551220301789?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0181551220301789?httpAccept=text/plainTest

المؤلفون: Smirnov, V., Marks, C., Debruyne, P., Riquet, A., Defoort-Dhellemmes, S.

المصدر: Journal Français d'Ophtalmologie ; volume 43, issue 7, page 676-677 ; ISSN 0181-5512

مصطلحات موضوعية: Ophthalmology

الإتاحة: https://doi.org/10.1016/j.jfo.2019.10.026Test
https://api.elsevier.com/content/article/PII:S0181551220302412?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0181551220302412?httpAccept=text/plainTest

المؤلفون: Geada, S., Teixeira-Marques, F., Teixeira, B., Carvalho, A. L., Lousan, N., Saraiva, J., Murta, J., Silva, R., Zanlonghi, X., Defoort-Dhellemmes, S., Smirnov, V., DHAENENS, Claire-Marie, Blanchet, C., Meunier, I., Marques, J. P.

المساهمون: Université de Lille, Inserm, CHU Lille, Lille Neurosciences & Cognition (LilNCog) - U 1172

مصطلحات موضوعية: inherited retinal disease, rod-cone degeneration, retinitis pigmentosa, olfactory dysfunction, CNGB1

العلاقة: Genes (Basel); http://hdl.handle.net/20.500.12210/101808Test

الإتاحة: https://doi.org/20.500.12210/101808Test
https://hdl.handle.net/20.500.12210/101808Test

المؤلفون: Smirnov, V.M., Dhaenens, C.-M., Vincent-Delorme, C., Defoort-Dhellemmes, S.

المساهمون: Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille

المصدر: ISSN: 0181-5512.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: hal-03486943; https://hal.science/hal-03486943Test; https://hal.science/hal-03486943/documentTest; https://hal.science/hal-03486943/file/S0181551219300488.pdfTest; PII: S0181-5512(19)30048-8

الإتاحة: https://doi.org/10.1016/j.jfo.2018.07.017Test
https://hal.science/hal-03486943Test
https://hal.science/hal-03486943/documentTest
https://hal.science/hal-03486943/file/S0181551219300488.pdfTest

المؤلفون: Béal, L., Defoort Dhellemmes, S., Smirnov, V.

المساهمون: Service d’Exploration de la Vision et Neuro-ophtalmologie CHU Lille, Hôpital Roger Salengro Lille -Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Université de Lille-Université de Lille

المصدر: ISSN: 0181-5512.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: hal-03487632; https://hal.science/hal-03487632Test; https://hal.science/hal-03487632/documentTest; https://hal.science/hal-03487632/file/S018155121930261X.pdfTest; PII: S0181-5512(19)30261-X

الإتاحة: https://doi.org/10.1016/j.jfo.2019.04.005Test
https://hal.science/hal-03487632Test
https://hal.science/hal-03487632/documentTest
https://hal.science/hal-03487632/file/S018155121930261X.pdfTest