المؤلفون: Aung, Tin, Ozaki, Mineo, Lee, Mei, Schlötzer-Schrehardt, Ursula, Thorleifsson, Gudmar, Mizoguchi, Takanori, Igo, Robert, Haripriya, Aravind, Williams, Susan, Astakhov, Yury, Orr, Andrew, Burdon, Kathryn, Nakano, Satoko, Mori, Kazuhiko, Abu-Amero, Khaled, Hauser, Michael, Li, Zheng, Prakadeeswari, Gopalakrishnan, Bailey, Jessica, Cherecheanu, Alina, Kang, Jae, Nelson, Sarah, Hayashi, Ken, Manabe, Shin-Ichi, Kazama, Shigeyasu, Zarnowski, Tomasz, Inoue, Kenji, Irkec, Murat, Coca-Prados, Miguel, Sugiyama, Kazuhisa, Järvelä, Irma, Schlottmann, Patricio, Lerner, S, Lamari, Hasnaa, Nilgün, Yildirim, Bikbov, Mukharram, Park, Ki, Cha, Soon, Yamashiro, Kenji, Zenteno, Juan, Jonas, Jost, Kumar, Rajesh, Perera, Shamira, Chan, Anita, Kobakhidze, Nino, George, Ronnie, Vijaya, Lingam, Do, Tan, Edward, Deepak, de Juan Marcos, Lourdes, Pakravan, Mohammad, Moghimi, Sasan, Ideta, Ryuichi, Bach-Holm, Daniella, Kappelgaard, Per, Wirostko, Barbara, Thomas, Samuel, Gaston, Daniel, Bedard, Karen, Greer, Wenda, Yang, Zhenglin, Chen, Xueyi, Huang, Lulin, Sang, Jinghong, Jia, Hongyan, Jia, Liyun, Qiao, Chunyan, Zhang, Hui, Liu, Xuyang, Zhao, Bowen, Wang, Ya-Xing, Xu, Liang, Leruez, Stéphanie, Reynier, Pascal, Chichua, George, Tabagari, Sergo, Uebe, Steffen, Zenkel, Matthias, Berner, Daniel, Mossböck, Georg, Weisschuh, Nicole, Hoja, Ursula, Welge-Luessen, Ulrich-Christoph, Mardin, Christian, Founti, Panayiota, Chatzikyriakidou, Anthi, Pappas, Theofanis, Anastasopoulos, Eleftherios, Lambropoulos, Alexandros, Ghosh, Arkasubhra, Shetty, Rohit, Porporato, Natalia, Saravanan, Vijayan, Venkatesh, Rengaraj, Shivkumar, Chandrashekaran, Kalpana, Narendran, Sarangapani, Sripriya, Kanavi, Mozhgan, Beni, Afsaneh, Yazdani, Shahin

المصدر: Nature Genetics. 49(7)

مصطلحات موضوعية: Aged, 80 and over, Alleles, Amino Acid Oxidoreductases, Amino Acid Substitution, Asian People, Calcium Channels, Cell Adhesion, Exfoliation Syndrome, Extracellular Matrix, Eye, Female, Gene Expression Profiling, Genetic Predisposition to Disease, Genome-Wide Association Study, Haplotypes, Humans, Male, Molecular Chaperones, Mutation, Missense, Point Mutation, RNA, Messenger, Spheroids, Cellular

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8v79f9zk

المؤلفون: Desquiret-Dumas, Valerie, Leman, Geraldine, Wetterwald, Celine, Chupin, Stephanie, Lebert, Anaïs, Khiati, Salim, Le Mao, Morgane, Geffroy, Guillaume, Kane, Mariame Selma, Chevrollier, Arnaud, Goudenege, David, Gadras, Cedric, Tessier, Lydie, Barth, Magalie, Leruez, Stephanie, Amati-Bonneau, Patrizia, Henrion, Daniel, Bonneau, Dominique, Procaccio, Vincent, Reynier, Pascal, Lenaers, Guy, Gueguen, Naig

المصدر: In BBA - Molecular Basis of Disease 1 September 2019 1865(9):2475-2489

المؤلفون: Le Roux, Bastien, Lenaers, Guy, Zanlonghi, Xavier, Amati-Bonneau, Patrizia^{Aff2, Aff4}, Chabrun, Floris^{Aff2, Aff4}, Foulonneau, Thomas, Caignard, Angélique, Leruez, Stéphanie, Gohier, Philippe, Procaccio, Vincent^{Aff2, Aff4}, Milea, Dan, den Dunnen, Johan T., Reynier, Pascal^{Aff2, Aff4}, Ferré, Marc^Aff2

المصدر: Orphanet Journal of Rare Diseases. 14(1)

المؤلفون: Leruez, Stéphanie^{Aff1, Aff2}, Verny, Christophe^{Aff2, Aff3}, Bonneau, Dominique^Aff2, Procaccio, Vincent^Aff2, Lenaers, Guy^Aff2, Amati-Bonneau, Patrizia^Aff2, Reynier, Pascal^Aff2, Scherer, Clarisse^{Aff2, Aff3}, Prundean, Adriana^{Aff2, Aff3}, Orssaud, Christophe^Aff4, Zanlonghi, Xavier^Aff5, Rougier, Marie-Bénédicte^Aff6, Tilikete, Caroline^Aff7, Miléa, Dan^{Aff1, Aff8, Aff9}

المصدر: Orphanet Journal of Rare Diseases. 13(1)

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::800a947024f14a03b65ae37df5f58a9f
https://hal.archives-ouvertes.fr/hal-02942795

المؤلفون: Le Roux, Bastien, Lenaers, Guy, Zanlonghi, Xavier, Amati-Bonneau, Patrizia, Chabrun, Floris, Foulonneau, Thomas, Caignard, Angélique, Leruez, Stéphanie, Gohier, Philippe, Milea, Dan, Den Dunnen, Johan, Reynier, Pascal, Ferré, Marc, Garret, Philippine, Bris, Céline, Procaccio, Vincent, Amati‐Bonneau, Patrizia, Vabres, Pierre, Houcinat, Nada, Tisserant, Emilie, Feillet, François, Bruel, Ange‐Line, Quéré, Virginie, Philippe, Christophe, Sorlin, Arthur, Tran Mau‐Them, Frédéric, Vitobello, Antonio, Costa, Jean‐Marc, Boughalem, Aïcha, Trost, Detlef, Faivre, Laurence, Thauvin‐Robinet, Christel, Duffourd, Yannis

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)

المصدر: Human Mutation
Human Mutation, Wiley, 2019, 40 (12), pp.2430-2443. ⟨10.1002/humu.23885⟩

مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Ataxia, Adolescent, Developmental Disabilities, [SDV]Life Sciences [q-bio], Biology, DNA, Mitochondrial, Genome, Haplogroup, Young Adult, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, Humans, Child, Exome, Genetics (clinical), Exome sequencing, ComputingMilieux_MISCELLANEOUS, Aged, 030304 developmental biology, Aged, 80 and over, 0303 health sciences, 030305 genetics & heredity, Infant, Newborn, Computational Biology, Genetic Variation, Infant, Middle Aged, Phenotype, Early Diagnosis, Child, Preschool, Female, Nervous System Diseases, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb0717ef1e786be8b74024f3d46c0503
https://hal.univ-angers.fr/hal-02975361

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.