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: MORENO-ARTERO, E., MORICE-PICARD, Fanny, BREMOND-GIGNAC, D., DRUMARE-BOUVET, I., DUNCOMBE-POULET, C., LECLERC-MERCIER, S., DUFRESNE, H., KAPLAN, J., JOUANNE, B., ARVEILER, Benoit, TAIEB, A., HADJ-RABIA, S.

مصطلحات موضوعية: Sciences du Vivant [q-bio]/Médecine humaine et pathologie

العلاقة: https://oskar-bordeaux.fr/handle/20.500.12278/112880Test

الإتاحة: https://doi.org/20.500.12278/112880Test
https://doi.org/10.1111/jdv.17275Test
https://oskar-bordeaux.fr/handle/20.500.12278/112880Test
https://hdl.handle.net/20.500.12278/112880Test

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: Moreno‐Artero, E., Morice‐Picard, F., Bremond‐Gignac, D., Drumare‐Bouvet, I., Duncombe‐Poulet, C., Leclerc‐Mercier, S., Dufresne, H., Kaplan, J., Jouanne, B., Arveiler, B., Taieb, A., Hadj‐Rabia, S.

المصدر: Journal of the European Academy of Dermatology & Venereology; Jul2021, Vol. 35 Issue 7, p1449-1459, 11p

مصطلحات موضوعية: ALBINOS & albinism, DIAGNOSIS, THERAPEUTICS, SCIENTIFIC literature, GENETIC disorders, ADNEXAL diseases

المؤلفون: Tabary, A., Vangheluwe, V., Defoort-Dhellemmes, S., Drumare-Bouvet, I.

المصدر: Journal Français d'Ophtalmologie ; volume 35, issue 10, page 754-759 ; ISSN 0181-5512

مصطلحات موضوعية: Ophthalmology

الإتاحة: https://doi.org/10.1016/j.jfo.2012.03.020Test
https://api.elsevier.com/content/article/PII:S018155121200352X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S018155121200352X?httpAccept=text/plainTest

المؤلفون: Drumare Bouvet, I., Defoort-Dhellemmes, S.

المصدر: Journal Français d'Ophtalmologie ; volume 28, page 178 ; ISSN 0181-5512

مصطلحات موضوعية: Ophthalmology

الإتاحة: https://doi.org/10.1016/s0181-5512Test(05)74514-9
https://api.elsevier.com/content/article/PII:S0181551205745149?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0181551205745149?httpAccept=text/plainTest

المؤلفون: Charif, Majida, Chevrollier, Arnaud, Gueguen, Naïg, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valérie, Leruez, Stéphanie, Colin, Estelle, Meunier, Audrey, Vignal, Catherine, Smirnov, Vasily, Defoort-Dhellemmes, Sabine, Drumare Bouvet, Isabelle, Goizet, Cyril, Votruba, Marcela, Jurkute, Neringa, Yu-Wai-Man, Patrick, Tagliavini, Francesca, Caporali, Leonardo, La Morgia, Chiara, Carelli, Valerio, Procaccio, Vincent, Zanlonghi, Xavier, Meunier, Isabelle, Reynier, Pascal, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy

المساهمون: Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA), 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., Charif, Majida [0000-0003-3301-4305], Chevrollier, Arnaud [0000-0002-5135-6643], Jurkute, Neringa [0000-0002-3092-7451], Caporali, Leonardo [0000-0002-0666-4380], La Morgia, Chiara [0000-0002-4639-8929], Lenaers, Guy [0000-0003-2736-3349], Apollo - University of Cambridge Repository

المصدر: Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2020, 6 (3), pp.e428. ⟨10.1212/NXG.0000000000000428⟩
Neurology: Genetics

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, [SDV]Life Sciences [q-bio], DOA, 32 Biomedical and Clinical Sciences, Neurodegenerative, SPG7, Article, 3105 Genetics, Rare Diseases, Genetics, 2.1 Biological and endogenous factors, optic atrophy, AFG3L2, Eye Disease and Disorders of Vision, ComputingMilieux_MISCELLANEOUS, 3212 Ophthalmology and Optometry, 2 Aetiology, FOS: Clinical medicine, Neurosciences, eye diseases, Brain Disorders, FOS: Biological sciences, Neurological, sense organs, 31 Biological Sciences

وصف الملف: ELETTRONICO; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::800a947024f14a03b65ae37df5f58a9fTest
https://hal.archives-ouvertes.fr/hal-02942795Test