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1دورية أكاديمية
المؤلفون: Salpietro V., Malintan N. T., Llano-Rivas I., Spaeth C. G., Efthymiou S., Striano P., Vandrovcova J., Cutrupi M. C., Chimenz R., David E., Di Rosa G., Marce-Grau A., Raspall-Chaure M., Martin-Hernandez E., Zara F., Minetti C., Kriouile Y., El Khorassani M., Aguennouz M., Karashova B., Avdjieva D., Kathom H., Tincheva R., Van Maldergem L., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Pironti E., Goraya J. S., Sultan T., Kirmani S., Ibrahim S., Jan F., Mine J., Banu S., Veggiotti P., Ferrari M. D., Verrotti A., Marseglia G. L., Savasta S., Garavaglia B., Scuderi C., Borgione E., Dipasquale V., Portaro S., Sanchez B. M., Pineda-Marfa M., Munell F., Macaya A., Boles R., Heimer G., Papacostas S., Manole A., Malintan N., Zanetti M. N., Hanna M. G., Rothman J. E., Kullmann D. M., Houlden H., Bello O. D., De Zorzi R., Fortuna S., Dauber A., Alkhawaja M., Mankad K., Vitobello A., Thomas Q., Mau-Them F. T., Faivre L., Martinez-Azorin F., Prada C. E., Krishnakumar S. S.
المساهمون: Salpietro, V., Malintan, N. T., Llano-Rivas, I., Spaeth, C. G., Efthymiou, S., Striano, P., Vandrovcova, J., Cutrupi, M. C., Chimenz, R., David, E., Di Rosa, G., Marce-Grau, A., Raspall-Chaure, M., Martin-Hernandez, E., Zara, F., Minetti, C., Kriouile, Y., El Khorassani, M., Aguennouz, M., Karashova, B., Avdjieva, D., Kathom, H., Tincheva, R., Van Maldergem, L., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Pironti, E., Goraya, J. S., Sultan, T., Kirmani, S., Ibrahim, S., Jan, F., Mine, J., Banu, S., Veggiotti, P., Ferrari, M. D., Verrotti, A., Marseglia, G. L., Savasta, S., Garavaglia, B., Scuderi, C., Borgione, E., Dipasquale, V., Portaro, S., Sanchez, B. M., Pineda-Marfa, M., Munell, F., Macaya, A., Boles, R., Heimer, G., Papacostas, S., Manole, A., Malintan, N., Zanetti, M. N., Hanna, M. G., Rothman, J. E., Kullmann, D. M., Houlden, H., Bello, O. D., De Zorzi, R., Fortuna, S., Dauber, A., Alkhawaja, M., Mankad, K., Vitobello, A., Thomas, Q., Mau-Them, F. T., Faivre, L., Martinez-Azorin, F., Prada, C. E., Krishnakumar, S. S.
مصطلحات موضوعية: autism, epilepsy, movement disorder, neurodevelopmental disorder, neuronal exocytosi, SNARE, synaptobrevin, synaptopathy, VAMP2, vesicle fusion
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30929742; info:eu-repo/semantics/altIdentifier/wos/WOS:000463474700012; volume:104; issue:4; firstpage:721; lastpage:730; numberofpages:10; journal:AMERICAN JOURNAL OF HUMAN GENETICS; info:eu-repo/grantAgreement/EC/FP7/2012-305121; http://hdl.handle.net/11368/2945858Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063684737; http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.02.016Test
http://hdl.handle.net/11368/2945858Test
http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest -
2دورية أكاديمية
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
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3دورية أكاديمية
المؤلفون: Manole A., Jaunmuktane Z., Hargreaves I., Ludtmann M. H. R., Salpietro V., Bello O. D., Pope S., Pandraud A., Horga A., Scalco R. S., Li A., Ashokkumar B., Lourenco C. M., Heales S., Horvath R., Chinnery P. F., Toro C., Singleton A. B., Jacques T. S., Abramov A. Y., Muntoni F., Hanna M. G., Reilly M. M., Revesz T., Kullmann D. M., Jepson J. E. C., Houlden H.
المساهمون: Manole, A., Jaunmuktane, Z., Hargreaves, I., Ludtmann, M. H. R., Salpietro, V., Bello, O. D., Pope, S., Pandraud, A., Horga, A., Scalco, R. S., Li, A., Ashokkumar, B., Lourenco, C. M., Heales, S., Horvath, R., Chinnery, P. F., Toro, C., Singleton, A. B., Jacques, T. S., Abramov, A. Y., Muntoni, F., Hanna, M. G., Reilly, M. M., Revesz, T., Kullmann, D. M., Jepson, J. E. C., Houlden, H.
مصطلحات موضوعية: Brown-Vialetto-Van Laere syndrome, riboflavin, SLC52A2, SLC52A3, Adolescent, Animal, Atrophy, Brain, Bulbar Palsy, Progressive, Child, Preschool, Citrate (si)-Synthase, Drosophila melanogaster, Electron Transport Complex I, Electron Transport Complex II, Electron Transport Complex III, Female, Fibroblast, Gene Knockdown Technique, Hearing Loss, Sensorineural, Human, In Vitro Technique, Infant, Locomotion, Longevity, Male, Membrane Transport Protein, Microscopy
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29053833; info:eu-repo/semantics/altIdentifier/wos/WOS:000414357800015; volume:140; firstpage:2820; lastpage:2837; numberofpages:18; journal:BRAIN; http://hdl.handle.net/11567/981533Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85032942874
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4دورية أكاديمية
المؤلفون: Hall, C. E., Yao, Z., Choi, M., Tyzack, G. E., Serio, A., Luisier, R., Harley, J., Preza, E., Arber, C., Crisp, S. J., Watson, P. M. D., Kullmann, D. M., Abramov, A. Y., Wray, S., Burley, R., Loh, Samantha H.Y., Martins, L. Miguel, Stevens, M. M., Luscombe, N .M., Sibley, C. R., Lakatos, A., Ule, J., Gandhi, S., Patani, R.
مصطلحات موضوعية: amyotrophic lateral sclerosis (ALS), astrocytes (ACs), disease modeling, induced pluripotent stem cells (iPSCs), motor neurons (MNs), Amyotrophic Lateral Sclerosis, Astrocytes, Cell Survival, DNA-Binding Proteins, Endoplasmic Reticulum, Endoplasmic Reticulum Stress, Humans, Induced Pluripotent Stem Cells, Membrane Potential, Mitochondrial, Mitochondria, Models, Biological, Motor Neurons, Mutation, Nerve Degeneration, Neurogenesis, Oxidative Stress, Phenotype, Synapses, Valosin Containing Protein
العلاقة: https://www.ncbi.nlm.nih.gov/pubmed/28564594Test; Cell Reports, 19 (9), pp. 1739-1749; https://www.sciencedirect.com/science/article/pii/S2211124717306496?via%3DihubTest#!; http://hdl.handle.net/2381/41950Test; S2211-1247(17)30649-6
الإتاحة: https://doi.org/10.1016/j.celrep.2017.05.024Test
https://www.sciencedirect.com/science/article/pii/S2211124717306496?via%3DihubTest#!
http://hdl.handle.net/2381/41950Test -
5دورية أكاديمية
المؤلفون: Taylor, C. J., Hirsch, N. P., Kullmann, D. M., Howard, Robin S.
المصدر: Journal of Neurology ; volume 264, issue 3, page 564-569 ; ISSN 0340-5354 1432-1459
مصطلحات موضوعية: Neurology (clinical), Neurology
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6دورية أكاديمية
المؤلفون: Spillane, J, Higham, E, Kullmann, D M
المصدر: BMJ: British Medical Journal, 2013 Jan . 346(7891), 36-38.
الوصول الحر: https://www.jstor.org/stable/23493934Test
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7دورية أكاديمية
المؤلفون: Bygrave, A M, Masiulis, S, Nicholson, E, Berkemann, M, Barkus, C, Sprengel, R, Harrison, P J, Kullmann, D M, Bannerman, D M, Kätzel, D
المصدر: Translational Psychiatry ; volume 6, issue 4, page e778-e778 ; ISSN 2158-3188
مصطلحات موضوعية: Biological Psychiatry, Cellular and Molecular Neuroscience, Psychiatry and Mental health
الإتاحة: https://doi.org/10.1038/tp.2016.44Test
https://www.nature.com/articles/tp201644.pdfTest
https://www.nature.com/articles/tp201644Test -
8دورية أكاديمية
المؤلفون: Spillane, J, Kullmann, D M, Hanna, M G
المصدر: Journal of Neurology, Neurosurgery & Psychiatry ; page jnnp-2015-311233 ; ISSN 0022-3050 1468-330X
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9دورية أكاديمية
المؤلفون: Kullmann, D. M.
المصدر: Brain ; volume 137, issue 11, page 2871-2871 ; ISSN 0006-8950 1460-2156
مصطلحات موضوعية: Neurology (clinical)
الإتاحة: https://doi.org/10.1093/brain/awu289Test
http://academic.oup.com/brain/article-pdf/137/11/2871/11143878/awu289.pdfTest -
10دورية أكاديمية
المؤلفون: Colasante G., Lignani G., Brusco S., Di Berardino C., Carpenter J., Giannelli S., Valassina N., Bido S., Ricci R., Castoldi V., Marenna S., Church T., Massimino L., Morabito G., Benfenati F., Schorge S., Leocani L., Kullmann D. M., Broccoli V.
المساهمون: Colasante, G., Lignani, G., Brusco, S., Di Berardino, C., Carpenter, J., Giannelli, S., Valassina, N., Bido, S., Ricci, R., Castoldi, V., Marenna, S., Church, T., Massimino, L., Morabito, G., Benfenati, F., Schorge, S., Leocani, L., Kullmann, D. M., Broccoli, V.
مصطلحات موضوعية: activatory CRISPR, Dravet syndrome, epileptic encephalopathy, gene therapy
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000506204400021; volume:28; issue:1; firstpage:235-253; lastpage:253; journal:MOLECULAR THERAPY; http://hdl.handle.net/20.500.11768/98217Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85073144209
الإتاحة: https://doi.org/20.500.11768/98217Test
https://doi.org/10.1016/j.ymthe.2019.08.018Test
https://hdl.handle.net/20.500.11768/98217Test