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1دورية أكاديمية
المؤلفون: Barbier, M, Camuzat, A, El Hachimi, K, Guegan, J, Rinaldi, D, Lattante, S, Houot, M, Sanchez-Valle, R, Sabatelli, M, Antonell, A, Molina-Porcel, L, Clot, F, Couratier, P, van der Ende, E, van der Zee, J, Manzoni, C, Camu, W, Cazeneuve, C, Sellal, F, Didic, M, Golfier, V, Pasquier, F, Duyckaerts, C, Rossi, G, Bruni, AC, Alvarez, V, Gomez-Tortosa, E, de Mendonca, A, Graff, C, Masellis, M, Nacmias, B, Oumoussa, BM, Jornea, L, Forlani, S, Van Deerlin, V, Rohrer, JD, Gelpi, E, Rademakers, R, Van Swieten, J, Le Guern, E, Van Broeckhoven, C, Ferrari, R, Genin, E, Brice, A, Le Ber, I
المصدر: Brain : a journal of neurology. 144(9):2798-2811
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Bensalah, M., Nabti, A., Lamari, F., Godefroy, O., Forlani, S., Jornea, L., Le Guern, E., Clot, F.
المساهمون: Service de neurologie Amiens, CHU Amiens-Picardie, Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
المصدر: ISSN: 0009-8981 ; Clinica Chimica Acta ; https://u-picardie.hal.science/hal-04571941Test ; Clinica Chimica Acta, 2024, 558, pp.119281. ⟨10.1016/j.cca.2024.119281⟩.
مصطلحات موضوعية: [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
العلاقة: hal-04571941; https://u-picardie.hal.science/hal-04571941Test
الإتاحة: https://doi.org/10.1016/j.cca.2024.119281Test
https://u-picardie.hal.science/hal-04571941Test -
3دورية أكاديمية
المؤلفون: Florian R. T., Kraft F., Leitao E., Kaya S., Klebe S., Magnin E., van Rootselaar A. -F., Buratti J., Kuhnel T., Schroder C., Giesselmann S., Tschernoster N., Altmueller J., Lamiral A., Keren B., Nava C., Bouteiller D., Forlani S., Jornea L., Kubica R., Ye T., Plassard D., Jost B., Meyer V., Deleuze J. -F., Delpu Y., Avarello M. D. M., Vijfhuizen L. S., Rudolf G., Hirsch E., Kroes T., Reif P. S., Rosenow F., Ganos C., Vidailhet M., Thivard L., Mathieu A., Bourgeron T., Kurth I., Rafehi H., Steenpass L., Horsthemke B., Berkovic S. F., Bisulli F., Brancati F., Canafoglia L., Casari G., Guerrini R., Ishiura H., Licchetta L., Mei D., Pippucci T., Sadleir L., Scheffer I. E., Striano P., Tinuper P., Tsuji S., Zara F., LeGuern E., Klein K. M., Labauge P., Bennett M. F., Bahlo M., Gecz J., Corbett M. A., Tijssen M. A. J., van den Maagdenberg A. M. J. M., Depienne C.
المساهمون: Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J. -F., Delpu, Y., Avarello, M. D. M., Vijfhuizen, L. S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P. S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S. F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I. E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., Leguern, E., Klein, K. M., Labauge, P., Bennett, M. F., Bahlo, M., Gecz, J., Corbett, M. A., Tijssen, M. A. J., van den Maagdenberg, A. M. J. M., Depienne, C.
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31664039; info:eu-repo/semantics/altIdentifier/wos/WOS:000493042500009; volume:10 - Article number: 4919 (2019); firstpage:4919; lastpage:4929; numberofpages:11; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11567/1022007Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074285073
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4دورية أكاديمية
المؤلفون: SELLAMI, L., RUCHETON, B., BEN YOUNES, I., CAMUZAT, A., SARACINO, D., RINALDI, D., EPELBAUM, S., AZUAR, C., LEVY, R., AURIACOMBE, Sophie, HANNEQUIN, D., PARIENTE, J., BARBIER, M., BOUTOLEAU-BRETONNIÈRE, C., COURATIER, P., PASQUIER, F., DERAMECOURT, V., SAUVÉE, M., SARAZIN, M., LAGARDE, J., ROUÉ-JAGOT, C., FORLANI, S., JORNEA, L., DAVID, I., LEGUERN, E., DUBOIS, B., BRICE, A., CLOT, F., LAMARI, F., LE BER, I.
مصطلحات موضوعية: SEPIA, Sciences du Vivant [q-bio]/Santé publique et épidémiologie
الإتاحة: https://doi.org/20.500.12278/26362Test
https://doi.org/10.1016/j.neurobiolaging.2020.02.014Test
https://oskar-bordeaux.fr/handle/20.500.12278/26362Test
https://hdl.handle.net/20.500.12278/26362Test -
5دورية أكاديمية
المؤلفون: Florian, RT, Kraft, F, Leitao, E, Kaya, S, Klebe, S, Magnin, E, van Rootselaar, A-F, Buratti, J, Kuehnel, T, Schroeder, C, Giesselmann, S, Tschernoster, N, Altmueller, J, lamiral, A, Keren, B, Nava, C, Bouteiller, D, Forlani, S, Jornea, L, Kubica, R, Ye, T, Plassard, D, Jost, B, Meyer, V, Deleuze, J-F, Delpu, Y, Avarello, MDM, Vijfhuizen, LS, Rudolf, G, Hirsch, E, Kroes, T, Reif, PS, Rosenow, F, Ganos, C, Vidailhet, M, Thivard, L, Mathieu, A, Bourgeron, T, Kurth, I, Rafehi, H, Steenpass, L, Horsthemke, B, Berkovic, SF, Bisulli, F, Brancati, F, Canafoglia, L, Casari, G, Guerrini, R, Ishiura, H, Licchetta, L, Mei, D, Pippucci, T, Sadleir, L, Scheffer, IE, Striano, P, Tinuper, P, Tsuji, S, Zara, F, LeGuern, E, Klein, KM, Labauge, P, Bennett, MF, Bahlo, M, Gecz, J, Corbett, MA, Tijssen, MAJ, van den Maagdenberg, AMJM, Depienne, C
العلاقة: pii: 10.1038/s41467-019-12763-9; Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuehnel, T., Schroeder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L. ,. Depienne, C. (2019). Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. NATURE COMMUNICATIONS, 10 (1), https://doi.org/10.1038/s41467-019-12763-9Test.; http://hdl.handle.net/11343/245207Test
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6دورية أكاديمية
المؤلفون: FOURNIER, C., BARBIER, M., CAMUZAT, A., ANQUETIL, V., LATTANTE, S., CLOT, F., CAZENEUVE, C., RINALDI, D., COURATIER, P., DERAMECOURT, V., SABATELLI, M., BELLIARD, S., VERCELLETTO, M., FORLANI, S., JORNEA, L., FRENCH, Clinical, GENETIC RESEARCH NETWORK ON, Ftld Ftld-Als, PREVDEMALS, GROUPS, F. TLD-Exome Study, LEGUERN, E., BRICE, A., LE BER, I.
مصطلحات موضوعية: Coll_SEPIA, Sciences du Vivant [q-bio]/Santé publique et épidémiologie
العلاقة: 1558-1497 (Electronic) 0197-4580 (Linking); https://oskar-bordeaux.fr/handle/20.500.12278/7899Test
الإتاحة: https://doi.org/20.500.12278/7899Test
https://doi.org/10.1016/j.neurobiolaging.2018.09.010Test
https://oskar-bordeaux.fr/handle/20.500.12278/7899Test
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7دورية أكاديمية
المؤلفون: Saracino, D., Dorgham, K., Camuzat, A., Rinaldi, D., Rametti-Lacroux, A., Houot, M., Clot, F., Martin-Hardy, P., Jornea, L., Azuar, C., Migliaccio, R., Pasquier, Florence, Couratier, P., Auriacombe, S., Sauvée, M., Boutoleau-Bretonnière, C., Pariente, J., Didic, M., Hannequin, D., Wallon, D., Colliot, O., Dubois, B., GERARD-LOISEAU, Sandra, Levy, R., Forlani, S., Le Ber, I.
المساهمون: Université de Lille, Inserm, CHU Lille, Lille Neurosciences & Cognition (LilNCog) - U 1172, Centre d'Histoire Judiciaire (CHJ) - UMR 8025
العلاقة: J Neurol Neurosurg Psychiatry; http://hdl.handle.net/20.500.12210/102060Test
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8دورية أكاديمية
المؤلفون: Barbier, M., Camuzat, A., Hachimi, K. E., Guegan, J., Rinaldi, D., Lattante, S., Houot, M., Sánchez-Valle, R., Sabatelli, M., Antonell, A., Molina-Porcel, L., Clot, F., Couratier, P., Van Der Ende, E., Van Der Zee, J., Manzoni, C., Camu, W., Cazeneuve, C., Sellal, F., Didic, M., Golfier, V., Pasquier, Florence, Duyckaerts, C., Rossi, G., Bruni, A. C., Alvarez, V., Gómez-Tortosa, E., De Mendonça, A., Graff, C., Masellis, M., Nacmias, B., Oumoussa, B. M., Jornea, L., Forlani, S., Van Deerlin, V., Rohrer, J. D., Gelpi, E., Rademakers, R., Van Swieten, J., Le Guern, E., Van Broeckhoven, C., Ferrari, R., Génin, E., Brice, A., Le Ber, I.
المساهمون: Université de Lille, Inserm, CHU Lille, Lille Neurosciences & Cognition (LilNCog) - U 1172
مصطلحات موضوعية: TDP-43, SLITRK2, C9orf72, amyotrophic lateral sclerosis, frontotemporal dementia
العلاقة: Brain; http://hdl.handle.net/20.500.12210/77197Test
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9دورية أكاديمية
المؤلفون: Kmetzsch, V., Anquetil, V., Saracino, D., Rinaldi, D., Camuzat, A., Gareau, T., Jornea, L., Forlani, S., Couratier, P., Wallon, D., Pasquier, Florence, Robil, N., De La Grange, P., Moszer, I., Le Ber, I., Colliot, O., Becker, E.
المساهمون: Université de Lille, Inserm, CHU Lille, Lille Neurosciences & Cognition (LilNCog) - U 1172
العلاقة: J Neurol Neurosurg Psychiatry; http://hdl.handle.net/20.500.12210/102110Test
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10دورية أكاديمية
المؤلفون: Bulteau, A.L., Planamente, S., Jornea, L., Dur, A., Lesuisse, E., Camadro, J.M., Auchère, F.
المساهمون: Agence Nationale de La Recherche
المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ; volume 1822, issue 2, page 212-225 ; ISSN 0925-4439
مصطلحات موضوعية: Molecular Biology, Molecular Medicine
الإتاحة: https://doi.org/10.1016/j.bbadis.2011.11.003Test
https://api.elsevier.com/content/article/PII:S0925443911002535?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0925443911002535?httpAccept=text/plainTest
النص الكامل