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1Academic JournalRTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity
المؤلفون: Maroofian, R., Sarraf, P., O’Brien, T.J., Kamel, M., Cakar, A., Elkhateeb, N., Lau, T., Patil, S.J., Record, C.J., Horga, A., Essid, M., Selim, L., Benrhouma, H., Ben Younes, T., Zifarelli, G., Pagnamenta, A.T., Bauer, P., Khundadze, M., Mirecki, A., Kamel, S.M., Elmonem, M.A., Ghayoor Karimiani, E., Jamshidi, Y., Offiah, A.C., Rossor, A.M., Youssef-Turki, I.B., Hübner, C.A., Munot, P., Reilly, M.M., Brown, A.E.X., Nagy, S., Houlden, H.
وصف الملف: text
Relation: https://eprints.whiterose.ac.uk/216743/1/awae091.pdf; Maroofian, R. orcid.org/0000-0001-6763-1542 , Sarraf, P., O’Brien, T.J. et al. (29 more authors) (2024) RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain, 147 (7). pp. 2334-2343. ISSN 0006-8950
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2Academic Journal
المؤلفون: Salpietro V., Maroofian R., Zaki M. S., Wangen J., Ciolfi A., Barresi S., Efthymiou S., Lamaze A., Aughey G. N., Al Mutairi F., Rad A., Rocca C., Cali E., Accogli A., Zara F., Striano P., Mojarrad M., Tariq H., Giacopuzzi E., Taylor J. C., Oprea G., Skrahina V., Rehman K. U., Abd Elmaksoud M., Bassiony M., El Said H. G., Abdel-Hamid M. S., Al Shalan M., Seo G., Kim S., Lee H., Khang R., Issa M. Y., Elbendary H. M., Rafat K., Marinakis N. M., Traeger-Synodinos J., Ververi A., Sourmpi M., Eslahi A., Khadivi Zand F., Beiraghi Toosi M., Babaei M., Jackson A., Hannah M. G., Bugiardini E., Bertini E., Kriouile Y., El-Khorassani M., Aguennouz M., Groppa S., Karashova B. M., Goraya J. S., Sultan T., Avdjieva D., Kathom H., Tincheva R., Banu S., Veggiotti P., Verrotti A., Lanari M., Savasta S., Macaya A., Garavaglia B., Borgione E., Papacostas S., Vikelis M., Chelban V., Kaiyrzhanov R., Cortese A., Sullivan R., Papanicolaou E. Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N. N., Atawneh O., Lim S. -Y., Zuccotti G. V., Marseglia G. L., Esposito S., Shaikh F., Cogo P., Corsello G., Mangano S., Nardello R., Mangano D., Scardamaglia A., Koutsis G., Scuderi C., Ferrara P., Morello G., Zollo M., Berni-Canani R., Terracciano L. M., Sisto A., Di Fabio S., Strano F., Scorrano G., Di Bella S., Di Francesco L., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Xiromerisiou G., Spanaki C., Fiorillo C., Iacomino M., Gaudio E., Munell F., Gagliano A., Jan F., Chimenz R., Gitto E., Iughetti L., Di Rosa G., Maghnie M., Pettoello-Mantovani M., Gupta N., Kabra M., Benrhouma H., Tazir M., Bottone G., Farello G., Delvecchio M., Di-Donato G., Obeid M., Bakhtadze S., Saadi N. W., Miraglia-Del-Giudice M., Maccarone R., Triki C. C., Kara M., Karimiani E. G., Salih A. M., Ramenghi L. A., Seri M., Di-Falco G., Mandara L., Barrano G., Elisa M., Cherubini E., Operto F. F., Valenzise M., Cattaneo A., Zazzeroni F., Alesse E., Matricardi S., Zafar F., Ullah E., Afzal E., Rahman F., Ahmed M. M., Parisi P., Spalice A., De Filippo M., Licari A., Trebbi E., Romano F., Heimer G., Al-Khawaja I., Al-Mutairi F., Alkuraya F. S., Rizig M., Shashkin C., Zharkynbekova N., Koneyev K., Bertoli-Avella A., Pagnamenta A. T., Niceta M., Battini R., Corsello A., Leoni C., Chiarelli F., Dallapiccola B., Faqeih E. A., Tallur K. K., Alfadhel M., Alobeid E., Maddirevula S., Mankad K., Banka S., Ghayoor-Karimiani E., Tartaglia M., Chung W. K., Green R., Jepson J. E. C., Houlden H.
المساهمون: Salpietro, V., Maroofian, R., Zaki, M. S., Wangen, J., Ciolfi, A., Barresi, S., Efthymiou, S., Lamaze, A., Aughey, G. N., Al Mutairi, F., Rad, A., Rocca, C., Cali, E., Accogli, A., Zara, F., Striano, P., Mojarrad, M., Tariq, H., Giacopuzzi, E., Taylor, J. C., Oprea, G., Skrahina, V., Rehman, K. U., Abd Elmaksoud, M., Bassiony, M., El Said, H. G., Abdel-Hamid, M. S., Al Shalan, M., Seo, G., Kim, S., Lee, H., Khang, R., Issa, M. Y., Elbendary, H. M., Rafat, K., Marinakis, N. M., Traeger-Synodinos, J., Ververi, A., Sourmpi, M., Eslahi, A., Khadivi Zand, F., Beiraghi Toosi, M., Babaei, M., Jackson, A., Hannah, M. G., Bugiardini, E., Bertini, E., Kriouile, Y., El-Khorassani, M., Aguennouz, M., Groppa, S., Karashova, B. M., Goraya, J. S., Sultan, T., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Veggiotti, P., Verrotti, A., Lanari, M., Savasta, S., Macaya, A., Garavaglia, B., Borgione, E., Papacostas, S., Vikelis, M., Chelban, V., Kaiyrzhanov, R., Cortese, A., Sullivan, R., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Lim, S. -Y., Zuccotti, G. V., Marseglia, G. L., Esposito, S., Shaikh, F., Cogo, P., Corsello, G., Mangano, S., Nardello, R., Mangano, D., Scardamaglia, A., Koutsis, G., Scuderi, C., Ferrara, P., Morello, G., Zollo, M., Berni-Canani, R., Terracciano, L. M., Sisto, A., Di Fabio, S., Strano, F., Scorrano, G.
مصطلحات موضوعية: GREND syndrome, GTPBP1, GTPBP2, NBIA, animal model, ectodermal disorder, neurodegeneration, neurodevelopmental disorder, ribosome stalling, ribosomopathies
Relation: info:eu-repo/semantics/altIdentifier/pmid/38118446; volume:111; issue:1; firstpage:200; lastpage:210; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11573/1700551; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85180561163
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3Academic Journal
المؤلفون: Maroofian, R, Sarraf, P, O'Brien, TJ, Kamel, M, Cakar, A, Elkhateeb, N, Lau, T, Patil, SJ, Record, CJ, Horga, A, Essid, M, Selim, L, Benrhouma, H, Ben Younes, T, Zifarelli, G, Pagnamenta, AT, Bauer, P, Khundadze, M, Mirecki, A, Kamel, SM, Elmonem, MA, Ghayoor Karimiani, E, Jamshidi, Y, Offiah, AC, Rossor, AM, Youssef-Turki, IB, Hübner, CA, Munot, P, Reilly, MM, Brown, AEX, Nagy, S, Houlden, H
وصف الملف: application/pdf; application/zip
Relation: https://openaccess.sgul.ac.uk/id/eprint/116704/1/awae091.pdf; https://openaccess.sgul.ac.uk/id/eprint/116704/6/awae091_supplementary_data.zip; Maroofian, R; Sarraf, P; O'Brien, TJ; Kamel, M; Cakar, A; Elkhateeb, N; Lau, T; Patil, SJ; Record, CJ; Horga, A; et al. Maroofian, R; Sarraf, P; O'Brien, TJ; Kamel, M; Cakar, A; Elkhateeb, N; Lau, T; Patil, SJ; Record, CJ; Horga, A; Essid, M; Selim, L; Benrhouma, H; Ben Younes, T; Zifarelli, G; Pagnamenta, AT; Bauer, P; Khundadze, M; Mirecki, A; Kamel, SM; Elmonem, MA; Ghayoor Karimiani, E; Jamshidi, Y; Offiah, AC; Rossor, AM; Youssef-Turki, IB; Hübner, CA; Munot, P; Reilly, MM; Brown, AEX; Nagy, S; Houlden, H (2024) RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain, 147 (7). pp. 2334-2343. ISSN 1460-2156 https://doi.org/10.1093/brain/awae091 SGUL Authors: Jamshidi, Yalda
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4Academic Journal
المؤلفون: Calì, E, Lin, SJ, Rocca, C, Sahin, Y, Al Shamsi, A, El Chehadeh, S, Chaabouni, M, Mankad, K, Galanaki, E, Efthymiou, S, Sudhakar, S, Athanasiou-Fragkouli, A, Çelik, T, Narlı, N, Bianca, S, Murphy, D, De Carvalho Moreira, FM, Hannah, MG, Bugiardini, E, Kriouile, Y, El Khorassani, M, Aguennouz, M, Groppa, S, Karashova, BM, Di Rosa, G, Goraya, JS, Sultan, T, Avdjieva, D, Kathom, H, Tincheva, R, Banu, S, Veggiotti, P, Verrotti, A, Savasta, S, Ruiz, AM, Garavaglia, B, Borgione, E, Papacostas, S, Compagnoni, C, Piccirilli, A, Vikelis, M, Chelban, V, Kaiyrzhanov, R, Cortese, A, Sullivan, R, Papanicolaou, EZ, Dardiotis, E, Maqbool, S, Ibrahim, S, Kirmani, S, Rana, NN, Atawneh, O, Lim, SY, Shaikh, F, Scardamaglia, A, Koutsis, G, Mangano, S, Scuderi, C, Morello, G, Zollo, M, Heimer, G, Striano, P, Al-Khawaja, I, Al-Mutairi, F, Alkuraya, FS, Rizig, M, Shashkin, C, Zharkynbekova, N, Koneyev, K, Manizha, G, Isrofilov, M, Guliyeva, U, Salayev, K, Khachatryan, S, Xiromerisiou, G, Spanaki, C, Tucci, A, Fiorillo, C, Rissotto, F, Munell, F, Gagliano, A, Jan, F, Chimenz, R, Gitto, E, Cuppari, C, Romeo, C, Magrinelli, F, Gupta, N, Kabra, M, Benrhouma, H, Tazir, M, Zagaroli, L, Caloisi, C, Fabiano, C, Bottone, G, Farello, G, Di Fabio, S, Obeid, M, Bakhtadze, S, Saadi, NW
المصدر: Genetics in Medicine (2022) (In press).
مصطلحات موضوعية: Human mediator complex, MED11, MEDopathies
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10155099/1/Rizig_A%20homozygous%20MED11%20C-terminal%20variant%20causes%20a%20lethal%20neurodegenerative%20disease_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10155099/
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5Academic Journal
المؤلفون: Akkari, M., Kraoua, I., Klaa, H., Benrhouma, H., Ben Younes, T., Rouissi, A., Chaabouni, M., Ben Youssef‐Turki, I.
المصدر: Molecular Genetics & Genomic Medicine ; volume 8, issue 12 ; ISSN 2324-9269 2324-9269
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6Academic Journal
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.
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000475295700001; volume:10; issue:1; firstpage:3094; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11390/1243137; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068965744
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7Academic Journal
المؤلفون: Salpietro, V, Dixon, CL, Guo, H, Bello, OD, 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, GB, Armstrong-Moron, J, Gueden, S, Bar-Yosef, O, Tzadok, M, Monaghan, KG, Santiago-Sim, T, Person, RE, Cho, MT, Willaert, R, Yoo, Y, Chae, J-H, Quan, Y, Wu, H, Wang, T, Bernier, RA, Xia, K, Blesson, A, Jain, M, Motazacker, MM, Jaeger, B, Schneider, AL, Boysen, K, Muir, AM, Myers, CT, Gavrilova, RH, Gunderson, L, Schultz-Rogers, L, Klee, EW, 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, Chez, M, Tsai, A, Fassi, E, Shinawi, M, Constantino, JN, De Zorzi, R, Fortuna, S, Kok, F, Keren, B, Bonneau, D, Choi, M, Benzeev, B, Zara, F, Mefford, HC, Scheffer, IE, Clayton-Smith, J, Macaya, A, Rothman, JE, Eichler, EE, Kullmann, DM, Houlden, H, Raspall-Chaure, M, Hanna, MG, Bugiardini, E, Hostettler, I, O'Callaghan, B, Khan, A, Cortese, A, O'Connor, E, Yau, WY, Bourinaris, T, Kaiyrzhanov, R, Chelban, V, Madej, M, Diana, MC, Vari, MS, Pedemonte, M, Bruno, C, Balagura, G, Scala, M, Fiorillo, C, Nobili, L, Malintan, NT, Zanetti, MN, Krishnakumar, SS, Lignani, G, Jepson, JEC, 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, JS, Sultan, T, Kirmani, S, Ibrahim, S, Jan, F, Mine, J, Banu, S, Veggiotti, P, Zuccotti, G, Ferrari, MD, Van Den Maagdenberg, AMJ, Verrotti, A, Marseglia, GL, Savasta, S, Soler, MA, Scuderi, C, Borgione, E, Chimenz, R, Gitto, E, Dipasquale, V, Sallemi, A, Fusco, M, Cuppari, C, Cutrupi, MC, Ruggieri, M, Cama, A, Capra, V, Mencacci, NE, Boles, R, Gupta, N, Kabra, M, Papacostas, S, Zamba-Papanicolaou, E, Dardiotis, E, Maqbool, S, Rana, N, Atawneh, O, Lim, SY, Shaikh, F, Koutsis, G, Breza, M, Coviello, DA, Dauvilliers, YA, AlKhawaja, I, AlKhawaja, M, Al-Mutairi, F, Stojkovic, T, Ferrucci, V, Zollo, M, Alkuraya, FS, Kinali, M, Sherifa, H, Benrhouma, H, Turki, IBY, Tazir, M, Obeid, M, Bakhtadze, S, Saadi, NW, Zaki, MS, Triki, CC, Benfenati, F, Gustincich, S, Kara, M, Belcastro, V, Specchio, N, Capovilla, G, Karimiani, EG, Salih, AM, Okubadejo, NU, Ojo, OO, Oshinaike, OO, Oguntunde, O, Wahab, K, Bello, AH, 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, LA, Xiromerisiou, G, David, E, Aguennouz, M, Fidani, L, Spanaki, C, Tucci, A
Relation: pii: 10.1038/s41467-019-10910-w; 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. ,. Tucci, A. (2019). AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. NATURE COMMUNICATIONS, 10 (1), https://doi.org/10.1038/s41467-019-10910-w.; http://hdl.handle.net/11343/246204
الاتاحة: http://hdl.handle.net/11343/246204
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8Academic Journal
المؤلفون: Donkervoort, S., Zaharieva, I., Essid, M., Longman, C., Foley, A., Horrocks, I., Benrhouma, H., Farrugia, M., Neuhaus, S., Younes, T., Youssef-Turki, I., Jamshidi, Y., Chao, K., Houlden, H., Maroofian, R., Bönnemann, C., Muntoni, F., Sarkozy, A.
المصدر: Neuromuscular Disorders ; volume 33, page S126-S127 ; ISSN 0960-8966
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9Academic Journal
المؤلفون: Cali E., Lin S. -J., Rocca C., Sahin Y., Al Shamsi A., El Chehadeh S., Chaabouni M., Mankad K., Galanaki E., Efthymiou S., Sudhakar S., Athanasiou-Fragkouli A., Celik T., Narli N., Bianca S., Murphy D., De Carvalho Moreira F. M., Hannah M. G., Bugiardini E., Kriouile Y., El Khorassani M., Aguennouz M., Groppa S., Karashova B. M., Di Rosa G., Goraya J. S., Sultan T., Avdjieva D., Kathom H., Tincheva R., Banu S., Veggiotti P., Verrotti A., Savasta S., Ruiz A. M., Garavaglia B., Borgione E., Papacostas S., Compagnoni C., Piccirilli A., Vikelis M., Chelban V., Kaiyrzhanov R., Cortese A., Sullivan R., Papanicolaou E. Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N. N., Atawneh O., Lim S. -Y., Shaikh F., Scardamaglia A., Koutsis G., Mangano S., Scuderi C., Morello G., Zollo M., Heimer G., Striano P., Al-Khawaja I., Al-Mutairi F., Alkuraya F. S., Rizig M., Shashkin C., Zharkynbekova N., Koneyev K., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Xiromerisiou G., Spanaki C., Tucci A., Fiorillo C., Rissotto F., Munell F., Gagliano A., Jan F., Chimenz R., Gitto E., Cuppari C., Romeo C., Magrinelli F., Gupta N., Kabra M., Benrhouma H., Tazir M., Zagaroli L., Caloisi C., Fabiano C., Bottone G., Farello G., Di Fabio S., Obeid M., Bakhtadze S., Saadi N. W., Zaki M. S., Triki C. C., Kara M., Belcastro V., Specchio N., Karimiani E. G., Salih A. M., Ramenghi L. A., David E., Curro R., Iezzi M. L., Iapadre G., Nanni G., Scorrano G., Fiorile M. F., Brancati F., Di Falco G., Mandara L., Barrano G., Elia M., Terrone G., Operto F. F., Valenzise M., Della Rocca Y., Zazzeroni F., Alesse E., Manti F., Galosi S., Nardecchia F., Leuzzi V., Pironti E., Amore G., Ceravolo G., Zafar F., Ullah E., Afzal E., Javed I., Rahman F., Ahmed M. M., Parisi P., Borgia P., Mangano G. D., Chiarelli F., Genomics Q. S., Andrea Accogli, Petree C., Huang K., Monastiri K., Edizadeh M., Nardello R., Ognibene M., De Marco P., Ruggieri M., Zara F., Al-Gazali L., Abi Warde M. T., Gerard B., Zifarelli G., Beetz C., Fortuna S., Soler M., Valente E. M., Varshney G., Maroofian R., Salpietro V., Houlden H.
المساهمون: Cali, E., Lin, S. -J., Rocca, C., Sahin, Y., Al Shamsi, A., El Chehadeh, S., Chaabouni, M., Mankad, K., Galanaki, E., Efthymiou, S., Sudhakar, S., Athanasiou-Fragkouli, A., Celik, T., Narli, N., Bianca, S., Murphy, D., De Carvalho Moreira, F. M., Hannah, M. G., Bugiardini, E., Kriouile, Y., El Khorassani, M., Aguennouz, M., Groppa, S., Karashova, B. M., Di Rosa, G., Goraya, J. S., Sultan, T., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Veggiotti, P., Verrotti, A., Savasta, S., Ruiz, A. M., Garavaglia, B., Borgione, E., Papacostas, S., Compagnoni, C., Piccirilli, A., Vikelis, M., Chelban, V., Kaiyrzhanov, R., Cortese, A., Sullivan, R., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Lim, S. -Y., Shaikh, F., Scardamaglia, A., Koutsis, G., Mangano, S., Scuderi, C., Morello, G., Zollo, M., Heimer, G., Striano, P., Al-Khawaja, I., Al-Mutairi, F., Alkuraya, F. S., Rizig, M., Shashkin, C., Zharkynbekova, N., Koneyev, K., Manizha, G., Isrofilov, M., Guliyeva, U., Salayev, K., Khachatryan, S., Xiromerisiou, G., Spanaki, C., Tucci, A., Fiorillo, C., Rissotto, F., Munell, F., Gagliano, A., Jan, F., Chimenz, R., Gitto, E., Cuppari, C., Romeo, C., Magrinelli, F., Gupta, N., Kabra, M., Benrhouma, H., Tazir, M., Zagaroli, L., Caloisi, C., Fabiano, C., Bottone, G., Farello, G., Di Fabio, S., Obeid, M., Bakhtadze, S., Saadi, N. W.
مصطلحات موضوعية: Human mediator complex, MED11, MEDopathies
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000879580900020; volume:24; issue:10; firstpage:2194; lastpage:2203; numberofpages:10; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11588/967924; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136518302
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10
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11Academic Journal
المؤلفون: Kraoua, I., Romani, M., Tonduti, D., Benrhouma, H., Zorzi, G., Zibordi, F., Ardissone, A., Gouider Khouja, N., Ben Youssef Turki, I., Nardocci, N., VALENTE, ENZA MARIA
المساهمون: Kraoua, I., Romani, M., Tonduti, D., Benrhouma, H., Zorzi, G., Zibordi, F., Ardissone, A., Gouider Khouja, N., Ben Youssef Turki, I., Nardocci, N., Valente, ENZA MARIA
Relation: info:eu-repo/semantics/altIdentifier/pmid/27000981; info:eu-repo/semantics/altIdentifier/wos/WOS:000372972300003; volume:23; issue:4; firstpage:e24; lastpage:e25; numberofpages:2; journal:EUROPEAN JOURNAL OF NEUROLOGY; http://hdl.handle.net/11571/1180520; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84961903945
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12Conference
المؤلفون: Marouani, I., Kraoua, I., Benrhouma, H., Rouissi, A., Turki, I., Nagi, S., Gouider Khouja, N., VALENTE, ENZA MARIA
المساهمون: Marouani, I., Kraoua, I., Benrhouma, H., Rouissi, A., Turki, I., Valente, ENZA MARIA, Nagi, S., Gouider Khouja, N.
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000309359702198; ispartofbook:EUROPEAN JOURNAL OF NEUROLOGY; 16th Congress of the European-Federation-of-Neurological-Societies (EFNS); volume:19; firstpage:414; lastpage:414; numberofpages:1; journal:EUROPEAN JOURNAL OF NEUROLOGY; http://hdl.handle.net/11571/1180759
الاتاحة: http://hdl.handle.net/11571/1180759
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13Conference
المؤلفون: Kraoua, I., Romani, M., Marouani, I., Benrhouma, H., Rouissi, A., Turki, I., Gouider Khouja, N., VALENTE, ENZA MARIA
المساهمون: Kraoua, I., Romani, M., Marouani, I., Benrhouma, H., Rouissi, A., Turki, I., Valente, ENZA MARIA, Gouider Khouja, N.
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000309359705085; ispartofbook:EUROPEAN JOURNAL OF NEUROLOGY; 16th Congress of the European-Federation-of-Neurological-Societies (EFNS); volume:19; firstpage:732; lastpage:732; numberofpages:1; journal:EUROPEAN JOURNAL OF NEUROLOGY; http://hdl.handle.net/11571/1180768
الاتاحة: http://hdl.handle.net/11571/1180768
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14Academic Journal
المؤلفون: Romani, M, Kraoua, I, Micalizzi, A, Klaa, H, Benrhouma, H, Drissi, C, Turki, I, Castellana, S, Mazza, T, Gouider Khouja, N., VALENTE, Enza Maria
المساهمون: Romani, M, Kraoua, I, Micalizzi, A, Klaa, H, Benrhouma, H, Drissi, C, Turki, I, Castellana, S, Mazza, T, Valente, Enza Maria, Gouider Khouja, N.
مصطلحات موضوعية: NBIA, PLA2G6, PLAN, founder mutation, infantile neuroaxonal dystrophy
Relation: info:eu-repo/semantics/altIdentifier/pmid/25164370; info:eu-repo/semantics/altIdentifier/wos/00034625470002; volume:22; firstpage:178-86; lastpage:186; journal:EUROPEAN JOURNAL OF NEUROLOGY; http://hdl.handle.net/11386/4649063
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15Academic Journal
المؤلفون: Ben Younes, T., Kraoua, I., Benrhouma, H., Nasrallah, F., Ben Achour, N., Klaa, H., Hassen-Rouissi, A., Drissi, C., Benoist, J.-F., Ben Youssef-Turki, I.
المصدر: Archives de Pédiatrie ; volume 24, issue 3, page 241-243 ; ISSN 0929-693X
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16Academic Journal
المؤلفون: Ben Achour, N., Nâas, A., Hammami, N., Rouissi, A., Kraoua, I., Benrhouma, H., Klaa, H., Ben Hammouda, M., Ben Youssef-Turki, I.
المصدر: Archives de Pédiatrie ; volume 24, issue 1, page 73-77 ; ISSN 0929-693X
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17Academic Journal
المؤلفون: Ben Achour, N., Nâas, A., Hammami, N., Rouissi, A., Kraoua, I., Benrhouma, H., Klaa, H., Ben Hammouda, M., Ben Youssef-Turki, I.
المصدر: Archives de Pédiatrie ; volume 24, issue 1, page 52-54 ; ISSN 0929-693X
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18Academic Journal
المؤلفون: Ben Achour, N., Raddadi, S., Benrhouma, H., Klaa, H., Rouissi, A., Kraoua, I., Ben Youssef Turki, I.
المصدر: European Journal of Paediatric Neurology ; volume 21, page e115 ; ISSN 1090-3798
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19Academic Journal
المؤلفون: El Mabrouk, E., Ben Achour, N., Turki, A., Benrhouma, H., Klaa, H., Kraoua, I., Ben Youssef-Turki, I.
المصدر: European Journal of Paediatric Neurology ; volume 21, page e230 ; ISSN 1090-3798
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20Academic Journal
المؤلفون: Ben Achour, N., Ben Waddey, O., Kraoua, I., Benrhouma, H., Klaa, H., Rouissi, A., Ben Youssef-Turki, I.
المصدر: Revue Neurologique ; volume 171, issue 12, page 882-890 ; ISSN 0035-3787
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