المؤلفون: Doummar, D., Treven, M., Qebibo, L., DEVOS, DAVID, Ghoumid, Jamal, Ravelli, C., Kranz, G., Krenn, M., Demailly, D., Cif, L., Davion, J. B., Zimprich, F., Burglen, L., Zech, M.

المساهمون: Université de Lille, CHU Lille, CHU Trousseau APHP, Medizinische Universität Wien = Medical University of Vienna, Lille Neurosciences & Cognition (LilNCog) - U 1172, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Hôpital Gui de Chauliac CHU Montpellier, Service de Neurochirurgie CHRU Montpellier, CIC CHU ( Lille)/inserm, Technische Universität Munchen - Université Technique de Munich Munich, Allemagne TUM

وصف الملف: application/rdf+xml; charset=utf-8; application/pdf

العلاقة: Annals of Clinical Translational Neurology; Ann Clin Transl Neurol; http://hdl.handle.net/20.500.12210/84168Test

الإتاحة: https://doi.org/20.500.12210/84168Test
https://hdl.handle.net/20.500.12210/84168Test

المؤلفون: Maroofian, R, Kaiyrzhanov, R, Cali, E, Zamani, M, Zaki, MS, Ferla, M, Tortora, D, Sadeghian, S, Saadi, SM, Abdullah, U, Karimiani, EG, Efthymiou, S, Yeşil, G, Alavi, S, Al Shamsi, AM, Tajsharghi, H, Abdel-Hamid, MS, Saadi, NW, Al Mutairi, F, Alabdi, L, Beetz, C, Ali, Z, Toosi, MB, Rudnik-Schöneborn, S, Babaei, M, Isohanni, P, Muhammad, J, Khan, S, Al Shalan, M, Hickey, SE, Marom, D, Elhanan, E, Kurian, MA, Marafi, D, Saberi, A, Hamid, M, Spaull, R, Meng, L, Lalani, S, Maqbool, S, Rahman, F, Seeger, J, Palculict, TB, Lau, T, Murphy, D, Mencacci, NE, Steindl, K, Begemann, A, Rauch, A, Akbas, S, Aslanger, AD, Salpietro, V, Yousaf, H, Ben-Shachar, S, Ejeskär, K, Al Aqeel, AI, High, FA, Armstrong-Javors, AE, Zahraei, SM, Seifi, T, Zeighami, J, Shariati, G, Sedaghat, A, Asl, SN, Shahrooei, M, Zifarelli, G, Burglen, L, Ravelli, C, Zschocke, J, Schatz, UA, Ghavideldarestani, M, Kamel, WA, Van Esch, H, Hackenberg, A, Taylor, JC, Al-Gazali, L, Bauer, P, Gleeson, JJ, Alkuraya, FS, Lupski, JR, Galehdari, H, Azizimalamiri, R, Chung, WK, Baig, SM, Houlden, H, Severino, M

وصف الملف: application/pdf; application/zip

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/116030/1/awad257.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/116030/6/awad257_supplementary_data.zipTest; Maroofian, R; Kaiyrzhanov, R; Cali, E; Zamani, M; Zaki, MS; Ferla, M; Tortora, D; Sadeghian, S; Saadi, SM; Abdullah, U; et al. Maroofian, R; Kaiyrzhanov, R; Cali, E; Zamani, M; Zaki, MS; Ferla, M; Tortora, D; Sadeghian, S; Saadi, SM; Abdullah, U; Karimiani, EG; Efthymiou, S; Yeşil, G; Alavi, S; Al Shamsi, AM; Tajsharghi, H; Abdel-Hamid, MS; Saadi, NW; Al Mutairi, F; Alabdi, L; Beetz, C; Ali, Z; Toosi, MB; Rudnik-Schöneborn, S; Babaei, M; Isohanni, P; Muhammad, J; Khan, S; Al Shalan, M; Hickey, SE; Marom, D; Elhanan, E; Kurian, MA; Marafi, D; Saberi, A; Hamid, M; Spaull, R; Meng, L; Lalani, S; Maqbool, S; Rahman, F; Seeger, J; Palculict, TB; Lau, T; Murphy, D; Mencacci, NE; Steindl, K; Begemann, A; Rauch, A; Akbas, S; Aslanger, AD; Salpietro, V; Yousaf, H; Ben-Shachar, S; Ejeskär, K; Al Aqeel, AI; High, FA; Armstrong-Javors, AE; Zahraei, SM; Seifi, T; Zeighami, J; Shariati, G; Sedaghat, A; Asl, SN; Shahrooei, M; Zifarelli, G; Burglen, L; Ravelli, C; Zschocke, J; Schatz, UA; Ghavideldarestani, M; Kamel, WA; Van Esch, H; Hackenberg, A; Taylor, JC; Al-Gazali, L; Bauer, P; Gleeson, JJ; Alkuraya, FS; Lupski, JR; Galehdari, H; Azizimalamiri, R; Chung, WK; Baig, SM; Houlden, H; Severino, M (2023) Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain, 146 (12). pp. 5031-5043. ISSN 1460-2156 https://doi.org/10.1093/brain/awad257Test SGUL Authors: Maroofian, Reza

الإتاحة: https://doi.org/10.1093/brain/awad257Test
https://openaccess.sgul.ac.uk/id/eprint/116030Test/
https://openaccess.sgul.ac.uk/id/eprint/116030/1/awad257.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/116030/6/awad257_supplementary_data.zipTest

المؤلفون: Hagege, R., Krajden Haratz, K., Malinger, G., Ben‐sira, L., Leibovitz, Z., Heron, D., Burglen, L., Birnbaum, R., Valence, S., Keren, B., Blumkin, L., Jouannic, J.‐m., Lerman‐sagie, T., Garel, C.

المساهمون: CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP

المصدر: ISSN: 0960-7692.

مصطلحات موضوعية: basal ganglia brainstem gyration magnetic resonance prenatal diagnosis tubulinopathy ultrasound, basal ganglia, brainstem, gyration, magnetic resonance, prenatal diagnosis, tubulinopathy, ultrasound, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: hal-04351182; https://hal.science/hal-04351182Test; https://hal.science/hal-04351182/documentTest; https://hal.science/hal-04351182/file/Ultrasound%20in%20Obstet%20Gyne%20-%202022%20-%20Hagege%20-%20Spectrum%20of%20brain%20malformations%20in%20fetuses%20with%20mild%20tubulinopathy.pdfTest

الإتاحة: https://doi.org/10.1002/uog.26140Test
https://hal.science/hal-04351182Test
https://hal.science/hal-04351182/documentTest
https://hal.science/hal-04351182/file/Ultrasound%20in%20Obstet%20Gyne%20-%202022%20-%20Hagege%20-%20Spectrum%20of%20brain%20malformations%20in%20fetuses%20with%20mild%20tubulinopathy.pdfTest

المؤلفون: Wirth, T., Garone, G., Kurian, M.A., Piton, A., Millan, F., Telegrafi, A., Drouot, N., Rudolf, G., Chelly, J., Marks, W., Burglen, L., Demailly, D., Coubes, P., Castro-Jimenez, M., Joriot, S., Ghoumid, J., Belin, J., Faucheux, J.M., Blumkin, L., Hull, M., Parnes, M., Ravelli, C., Poulen, G., Calmels, N., Nemeth, A.H., Smith, M., Barnicoat, A., Ewenczyk, C., Méneret, A., Roze, E., Keren, B., Mignot, C., Beroud, C., Acosta, F., Nowak, C., Wilson, W.G., Steel, D., Capuano, A., Vidailhet, M., Lin, J.P., Tranchant, C., Cif, L., Doummar, D., Anheim, M.

المصدر: Movement disorders, vol. 37, no. 7, pp. 1547-1554

مصطلحات موضوعية: Dystonia/genetics, Dystonic Disorders/genetics, GTP-Binding Protein alpha Subunits, Gi-Go/genetics, Humans, Movement Disorders/genetics, Parkinsonian Disorders/genetics, Phenotype, GNAO1, dystonia, mutation, phenotypes

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35722775; info:eu-repo/semantics/altIdentifier/eissn/1531-8257; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_7700259238450; https://serval.unil.ch/notice/serval:BIB_770025923845Test; urn:issn:0885-3185; https://serval.unil.ch/resource/serval:BIB_770025923845.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7700259238450Test

الإتاحة: https://doi.org/10.1002/mds.29074Test
https://serval.unil.ch/notice/serval:BIB_770025923845Test
https://serval.unil.ch/resource/serval:BIB_770025923845.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7700259238450Test

المؤلفون: Coolen, M., Altin, N., Rajamani, K., Pereira, E., Siquier-Pernet, K., Puig Lombardi, E., Moreno, N., Barcia, G., Yvert, M., Laquerrière, A., Pouliet, A., Nitschké, P., Boddaert, N., Rausell, A., Razavi, F., Afenjar, A., Billette de Villemeur, T., Al-Maawali, A., Al-Thihli, K., Baptista, J., Beleza-Meireles, A., Garel, C., Legendre, M., Gelot, A., Burglen, L., Moutton, S., Cantagrel, V.

مصطلحات موضوعية: Animals, Brain Diseases/pathology, Brain Stem, Cerebellum/abnormalities/pathology, Developmental Disabilities, Histone-Lysine N-Methyltransferase/genetics, Humans, Mice, Mutation/genetics, Nervous System Malformations, Neurogenesis/genetics, Purkinje Cells/metabolism, Transcription Factors/genetics, Zebrafish/metabolism, Prdm13, Purkinje cells, brainstem, cerebellum, inferior olive nuclei, neurodevelopment, neuronal specification, olivopontocerebellar hypoplasia, zebrafish

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297Test(22)00106-9; Am J Hum Genet. 2022 May 5;109(5):909-927. doi:10.1016/j.ajhg.2022.03.010. Epub 2022 Apr 6.; https://rde.dspace-express.com/handle/11287/622634Test; American journal of human genetics; PMC9118116

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.03.010Test
https://rde.dspace-express.com/handle/11287/622634Test

المؤلفون: Traschutz A., Schirinzi T., Laugwitz L., Murray N. H., Bingman C. A., Reich S., Kern J., Heinzmann A., Vasco G., Bertini E., Zanni G., Durr A., Magri S., Taroni F., Malandrini A., Baets J., de Jonghe P., de Ridder W., Bereau M., Demuth S., Ganos C., Basak A. N., Hanagasi H., Kurul S. H., Bender B., Schols L., Grasshoff U., Klopstock T., Horvath R., van de Warrenburg B., Burglen L., Rougeot C., Ewenczyk C., Koenig M., Santorelli F. M., Anheim M., Munhoz R. P., Haack T., Distelmaier F., Pagliarini D. J., Puccio H., Synofzik M.

المساهمون: Traschutz, A., Schirinzi, T., Laugwitz, L., Murray, N. H., Bingman, C. A., Reich, S., Kern, J., Heinzmann, A., Vasco, G., Bertini, E., Zanni, G., Durr, A., Magri, S., Taroni, F., Malandrini, A., Baets, J., de Jonghe, P., de Ridder, W., Bereau, M., Demuth, S., Ganos, C., Basak, A. N., Hanagasi, H., Kurul, S. H., Bender, B., Schols, L., Grasshoff, U., Klopstock, T., Horvath, R., van de Warrenburg, B., Burglen, L., Rougeot, C., Ewenczyk, C., Koenig, M., Santorelli, F. M., Anheim, M., Munhoz, R. P., Haack, T., Distelmaier, F., Pagliarini, D. J., Puccio, H., Synofzik, M.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32337771; info:eu-repo/semantics/altIdentifier/wos/WOS:000539105500001; volume:88; issue:2; firstpage:251; lastpage:263; numberofpages:13; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/11365/1128531Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85086169325

الإتاحة: https://doi.org/10.1002/ana.25751Test
http://hdl.handle.net/11365/1128531Test

المؤلفون: Ucuncu, E, Rajamani, K, Burglen, L, Boddaert, N, Saiardi, A, Cantagrel, V

المصدر: médecine/sciences , 37 (6-7) pp. 572-574. (2021)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10131551/1/msc200396.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10131551Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10131551/1/msc200396.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10131551Test/

المؤلفون: Meng, L, Isohanni, P, Shao, Y, Graham, BH, Hickey, SE, Brooks, S, Suomalainen, A, Joset, P, Steindl, K, Rauch, A, Hackenberg, A, High, FA, Armstrong-Javors, A, Mencacci, NE, Gonzalez-Latapi, P, Kamel, WA, Al-Hashel, JY, Bustos, B, Hernandez, A, Krainc, D, Lubbe, SJ, Van Esch, H, De Luca, C, Ballon, K, Ravelli, C, Burglen, L, Qebibo, L, Calame, DG, Mitani, T, Marafi, D, Pehlivan, D, Saadi, NW, Sahin, Y, Maroofian, R, Efthymiou, S, Houlden, H, Maqbool, S, Rahman, F, Gu, S, Posey, JE, Lupski, JR, Hunter, J, Wangler, MF, Carroll, CJ, Yang, Y

المصدر: Annals of Neurology , 89 (4) pp. 828-833. (2021)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10124204/3/Efthymiou_MED27_12302020_Annals%20of%20Neurology_clean.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10124204Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10124204/3/Efthymiou_MED27_12302020_Annals%20of%20Neurology_clean.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10124204Test/

المؤلفون: Salpietro V., Dixon C. L., Guo H., Bello O. D., Vandrovcova J., Efthymiou S., Maroofian R., Heimer G., Burglen L., Valence S., Torti E., Hacke M., Rankin J., Tariq H., Colin E., Procaccio V., Striano P., Mankad K., Lieb A., Chen S., Pisani L., Bettencourt C., Mannikko R., Manole A., Brusco A., Grosso E., Ferrero G. B., Armstrong-Moron J., Gueden S., Bar-Yosef O., Tzadok M., Monaghan K. G., Santiago-Sim T., Person R. E., Cho M. T., Willaert R., Yoo Y., Chae J. -H., Quan Y., Wu H., Wang T., Bernier R. A., Xia K., Blesson A., Jain M., Motazacker M. M., Jaeger B., Schneider A. L., Boysen K., Muir A. M., Myers C. T., Gavrilova R. H., Gunderson L., Schultz-Rogers L., Klee E. W., Dyment D., Osmond M., Parellada M., Llorente C., Gonzalez-Penas J., Carracedo A., Van Haeringen A., Ruivenkamp C., Nava C., Heron D., Nardello R., Iacomino M., Minetti C., Skabar A., Fabretto A., Hanna M. G., Bugiardini E., Hostettler I., O'Callaghan B., Khan A., Cortese A., O'Connor E., Yau W. Y., Bourinaris T., Kaiyrzhanov R., Chelban V., Madej M., Diana M. C., Vari M. S., Pedemonte M., Bruno C., Balagura G., Scala M., Fiorillo C., Nobili L., Malintan N. T., Zanetti M. N., Krishnakumar S. S., Lignani G., Jepson J. E. C., Broda P., Baldassari S., Rossi P., Fruscione F., Madia F., Traverso M., De-Marco P., Perez-Duenas B., Munell F., Kriouile Y., El-Khorassani M., Karashova B., Avdjieva D., Kathom H., Tincheva R., Van-Maldergem L., Nachbauer W., Boesch S., Gagliano A., Amadori E., Goraya J. S., Sultan T., Kirmani S., Ibrahim S., Jan F., Mine J., Banu S., Veggiotti P., Zuccotti G. V., Ferrari M. D., Van Den Maagdenberg A. M. J., Verrotti A., Marseglia G. L., Savasta S., Soler M. A., Scuderi C., Borgione E., Chimenz R., Gitto E., Dipasquale V., Sallemi A., Fusco M., Cuppari C., Cutrupi M. C., Ruggieri M., Cama A., Capra V., Mencacci N. E., Boles R., Gupta N., Kabra M., Papacostas S., Zamba-Papanicolaou E., Dardiotis E., Maqbool S., Rana N., Atawneh O., Lim S. Y., Shaikh F., Koutsis G., Breza M., Coviello D. A., Dauvilliers Y. A., AlKhawaja I., AlKhawaja M., Al-Mutairi F., Stojkovic T., Ferrucci V., Zollo M., Alkuraya F. S., Kinali M., Sherifa H., Benrhouma H., Turki I. B. Y., Tazir M., Obeid M., Bakhtadze S., Saadi N. W., Zaki M. S., Triki C. C., Benfenati F., Gustincich S., Kara M., Belcastro V., Specchio N., Capovilla G., Karimiani E. G., Salih A. M., Okubadejo N. U., Ojo O. O., Oshinaike O. O., Oguntunde O., Wahab K., Bello A. H., Abubakar S., Obiabo Y., Nwazor E., Ekenze O., Williams U., Iyagba A., Taiwo L., Komolafe M., Senkevich K., Shashkin C., Zharkynbekova N., Koneyev K., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Rossi S., Silvestri G., Haridy N., Ramenghi L. A., Xiromerisiou G., David E., Aguennouz M., Fidani L., Spanaki C., Tucci A., Raspall-Chaure M., Chez M., Tsai A., Fassi E., Shinawi M., Constantino J. N., De Zorzi R., Fortuna S., Kok F., Keren B., Bonneau D., Choi M., Benzeev B., Zara F., Mefford H. C., Scheffer I. E., Clayton-Smith J., Macaya A., Rothman J. E., Eichler E. E., Kullmann D. M., Houlden H.

المساهمون: Salpietro, V., Dixon, C. L., Guo, H., Bello, O. D., Vandrovcova, J., Efthymiou, S., Maroofian, R., Heimer, G., Burglen, L., Valence, S., Torti, E., Hacke, M., Rankin, J., Tariq, H., Colin, E., Procaccio, V., Striano, P., Mankad, K., Lieb, A., Chen, S., Pisani, L., Bettencourt, C., Mannikko, R., Manole, A., Brusco, A., Grosso, E., Ferrero, G. B., Armstrong-Moron, J., Gueden, S., Bar-Yosef, O., Tzadok, M., Monaghan, K. G., Santiago-Sim, T., Person, R. E., Cho, M. T., Willaert, R., Yoo, Y., Chae, J. -H., Quan, Y., Wu, H., Wang, T., Bernier, R. A., Xia, K., Blesson, A., Jain, M., Motazacker, M. M., Jaeger, B., Schneider, A. L., Boysen, K., Muir, A. M., Myers, C. T., Gavrilova, R. H., Gunderson, L., Schultz-Rogers, L., Klee, E. W., Dyment, D., Osmond, M., Parellada, M., Llorente, C., Gonzalez-Penas, J., Carracedo, A., Van Haeringen, A., Ruivenkamp, C., Nava, C., Heron, D., Nardello, R., Iacomino, M., Minetti, C., Skabar, A., Fabretto, A., Hanna, M. G., Bugiardini, E., Hostettler, I., O'Callaghan, B., Khan, A., Cortese, A., O'Connor, E., Yau, W. Y., Bourinaris, T., Kaiyrzhanov, R., Chelban, V., Madej, M., Diana, M. C., Vari, M. S., Pedemonte, M., Bruno, C., Balagura, G., Scala, M., Fiorillo, C., Nobili, L., Malintan, N. T., Zanetti, M. N., Krishnakumar, S. S., Lignani, G., Jepson, J. E. C., Broda, P., Baldassari, S., Rossi, P., Fruscione, F., Madia, F.

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000475295700001; volume:10; issue:1; firstpage:3094; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11390/1243137Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068965744

الإتاحة: https://doi.org/10.1038/s41467-019-10910-wTest
https://hdl.handle.net/11390/1243137Test

المؤلفون: Barbosa, S. (Sónia), Greville-Heygate, S. (Stephanie), Bonnet, M. (Maxime), Godwin, A. (Annie), Fagotto-Kaufmann, C. (Christine), Kajava, Andrey V., Laouteouet, D. (Damien), Mawby, R. (Rebecca), Wai, H. (Htoo Aung), Dingemans, Alexander J.M., Hehir-Kwa, J. (Jayne), Willems, M. (Marjorlaine), Capri, Y. (Yline), Mehta, Sarju G., Cox, H. (Helen), Goudie, D. (David), Vansenne, F. (Fleur), Turnpenny, P. (Peter), Vincent, M. (Marie), Cogné, B. (Benjamin), Lesca, G. (Gaëtan), Hertecant, J. (Jozef), Rodriguez, D. (Diana), Keren, B. (Boris), Burglen, L. (Lydie), Gérard, M. (Marion), Putoux, A. (Audrey), Cantagrel, V. (Vincent), Siquier-Pernet, K. (Karine), Rio, M. (Marlene), Banka, S. (Siddharth), Sarkar, A. (Ajoy), Steeves, M. (Marcie), Parker, M. (Michael), Clement, E. (Emma), Moutton, S. (Sébastien), Tran Mau-Them, F. (Frédéric), Piton, A. (Amélie), de Vries, Bert B.A., Guille, M. (Matthew), Debant, A. (Anne), Schmidt, S. (Susanne), Baralle, D. (Diana)

مصطلحات موضوعية: Sciences du Vivant [q-bio]/Neurosciences [q-bio.NC]

الإتاحة: https://linkinghub.elsevier.com/retrieve/pii/S0002929720300185Test