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1دورية أكاديمية
المؤلفون: Nonneman, A, Criem, N, Lewandowski, SA, Nuyts, R, Thal, DR, Pfrieger, FW, Ravits, J, Van Damme, P, Zwijsen, A, Van Den Bosch, L, Robberecht, W
المصدر: Neurobiology of disease. 119:26-40
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Gautier, O, Blum, JA, Maksymetz, J, Chen, D, Schweingruber, C, Mei, I, Hermann, A, Hackos, DH, Hedlund, E, Ravits, J, Gitler, AD
المصدر: Neuron. 111(23):3739-3741
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Šušnjar, Urša, Škrabar, Neva, Brown, Anna-Leigh, Abbassi, Yasmine, Phatnani, Hemali, Phatnani, H., Fratta, P., Kwan, J., Sareen, D., Broach, J. R., Simmons, Z., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Shneider, N. A., Fraenkel, E., Ostrow, L. W., Baas, F., Berry, J. D., Butovsky, O., Baloh, R. H., Shalem, Ophir, Heiman-Patterson, T., Stefanis, L., Chandran, S., Pal, S., Smith, C., Malaspina, A., Hammell, M. G., Patsopoulos, N. A., Dubnau, J., Poss, M., Zhang, B., Zaitlen, N., Hornstein, E., Miller, T. M., Dardiotis, E., Bowser, R., Menon, V., Harms, M., Atassi, N., Lange, D. J., MacGowan, D. J., McMillan, C., Aronica, E., Harris, B., Ravits, J., Crary, J., Thompson, L. M., Raj, T.
المساهمون: AriSLA Project: PathensTDP
المصدر: Communications Biology ; volume 5, issue 1 ; ISSN 2399-3642
مصطلحات موضوعية: General Agricultural and Biological Sciences, General Biochemistry, Genetics and Molecular Biology, Medicine (miscellaneous)
الإتاحة: https://doi.org/10.1038/s42003-022-03253-8Test
https://www.nature.com/articles/s42003-022-03253-8.pdfTest
https://www.nature.com/articles/s42003-022-03253-8Test -
4دورية أكاديمية
المؤلفون: Johnson J. O., Chia R., Miller D. E., Li R., Kumaran R., Abramzon Y., Alahmady N., Renton A. E., Topp S. D., Gibbs J. R., Cookson M. R., Sabir M. S., Dalgard C. L., Troakes C., Jones A. R., Shatunov A., Iacoangeli A., Al Khleifat A., Ticozzi N., Silani V., Gellera C., Blair I. P., Dobson-Stone C., Kwok J. B., Bonkowski E. S., Palvadeau R., Tienari P. J., Morrison K. E., Shaw P. J., Al-Chalabi A., Brown R. H., Calvo A., Mora G., Al-Saif H., Gotkine M., Leigh F., Chang I. J., Perlman S. J., Glass I., Scott A. I., Shaw C. E., Basak A. N., Landers J. E., Chio A., Crawford T. O., Smith B. N., Traynor B. J., Fallini C., Gkazi A. S., Scotter E. L., Kenna K. P., Keagle P., Tiloca C., Vance C., Colombrita C., King A., Pensato V., Castellotti B., Baas F., Ten Asbroek A. L. M. A., McKenna-Yasek D., McLaughlin R. L., Polak M., Asress S., Esteban-Perez J., Stevic Z., D'Alfonso S., Mazzini L., Comi G. P., Del Bo R., Ceroni M., Gagliardi S., Querin G., Bertolin C., Van Rheenen W., Rademakers R., Van Blitterswijk M., Lauria G., Duga S., Corti S., Cereda C., Corrado L., Soraru G., Williams K. L., Nicholson G. A., Leblond-Manry C., Rouleau G. A., Hardiman O., Veldink J. H., Van Den Berg L. H., Pall H., Turner M. R., Talbot K., Taroni F., Garcia-Redondo A., Wu Z., Glass J. D., Ratti A., Adeleye A., Soltis A. R., Alba C., Viollet C., Bacikova D., Hupalo D. N., Sukumar G., Pollard H. B., Wilkerson M. D., Martinez E. M., Ahmed S., Arepalli S., Baloh R. H., Bowser R., Brady C. B., Brice A., Broach J., Campbell R. H., Camu W., Cooper-Knock J., Ding J., Drepper C., Drory V. E., Dunckley T. L., Eicher J. D., England B. K., Faghri F., Feldman E., Floeter M. K., Fratta P., Geiger J. T., Gerhard G., Gibson S. B., Hardy J., Harms M. B., Heiman-Patterson T. D., Hernandez D. G., Jansson L., Kirby J., Kowall N. W., Laaksovirta H., Landeck N., Landi F., Le Ber I., Lumbroso S., Macgowan D. J. L., Maragakis N. J., Mouzat K., Murphy N. A., Myllykangas L., Nalls M. A., Orrell R. W., Ostrow L. W., Pamphlett R., Pickering-Brown S., Pioro E. P., Pletnikova O., Pliner H. A., Pulst S. M., Ravits J. M., Rivera A., Robberecht W., Rogaeva E., Rollinson S., Rothstein J. D., Scholz S. W., Sendtner M., Sidle K. C., Simmons Z., Singleton A. B., Smith N., Stone D. J., Troncoso J. C., Valori M., Van Damme P., Van Deerlin V. M., Van Den Bosch L., Zinman L., Angelocola S. M., Ausiello F. P., Barberis M., Bartolomei I., Battistini S., Bersano E., Bisogni G., Borghero G., Brunetti M., Cabona C., Canale F., Canosa A., Cantisani T. A., Capasso M., Caponnetto C., Cardinali P., Carrera P., Casale F., Colletti T., Conforti F. L., Conte A., Conti E., Corbo M., Cuccu S., Dalla Bella E., D'Errico E., Demarco G., Dubbioso R., Ferrarese C., Ferraro P. M., Filippi M., Fini N., Floris G., Fuda G., Gallone S., Gianferrari G., Giannini F., Grassano M., Greco L., Iazzolino B., Introna A., La Bella V., Lattante S., Liguori R., Logroscino G., Logullo F. O., Lunetta C., Mandich P., Mandrioli J., Manera U., Manganelli F., Marangi G., Marinou K., Marrosu M. G., Martinelli I., Messina S., Moglia C., Mosca L., Murru M. R., Origone P., Passaniti C., Petrelli C., Petrucci A., Pozzi S., Pugliatti M., Quattrini A., Ricci C., Riolo G., Riva N., Russo M., Sabatelli M., Salamone P., Salivetto M., Salvi F., Santarelli M., Sbaiz L., Sideri R., Simone I., Simonini C., Spataro R., Tanel R., Tedeschi G., Ticca A., Torriello A., Tranquilli S., Tremolizzo L., Trojsi F., Vasta R., Vacchiano V., Vita G., Volanti P., Zollino M., Zucchi E.
المساهمون: Johnson, J. O., Chia, R., Miller, D. E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A. E., Topp, S. D., Gibbs, J. R., Cookson, M. R., Sabir, M. S., Dalgard, C. L., Troakes, C., Jones, A. R., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Ticozzi, N., Silani, V., Gellera, C., Blair, I. P., Dobson-Stone, C., Kwok, J. B., Bonkowski, E. S., Palvadeau, R., Tienari, P. J., Morrison, K. E., Shaw, P. J., Al-Chalabi, A., Brown, R. H., Calvo, A., Mora, G., Al-Saif, H., Gotkine, M., Leigh, F., Chang, I. J., Perlman, S. J., Glass, I., Scott, A. I., Shaw, C. E., Basak, A. N., Landers, J. E., Chio, A., Crawford, T. O., Smith, B. N., Traynor, B. J., Fallini, C., Gkazi, A. S., Scotter, E. L., Kenna, K. P., Keagle, P., Tiloca, C., Vance, C., Colombrita, C., King, A., Pensato, V., Castellotti, B., Baas, F., Ten Asbroek, A. L. M. A., McKenna-Yasek, D., Mclaughlin, R. L., Polak, M., Asress, S., Esteban-Perez, J., Stevic, Z., D'Alfonso, S., Mazzini, L., Comi, G. P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., Van Rheenen, W., Rademakers, R., Van Blitterswijk, M., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Soraru, G., Williams, K. L., Nicholson, G. A., Leblond-Manry, C., Rouleau, G. A., Hardiman, O., Veldink, J. H., Van Den Berg, L. H., Pall, H., Turner, M. R.
مصطلحات موضوعية: Adolescent, Adult, Amyotrophic Lateral Sclerosi, Child, Preschool, Female, Genetic Predisposition to Disease, Human, Mutation, Serine C-Palmitoyltransferase, Whole Exome Sequencing, Young Adult
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34459874; info:eu-repo/semantics/altIdentifier/wos/WOS:000692566100005; volume:78; issue:10; firstpage:1236; lastpage:1248; numberofpages:13; journal:JAMA NEUROLOGY; http://hdl.handle.net/11365/1181203Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114289450; https://jamanetwork.com/journals/jamaneurology/fullarticle/2783665Test; https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8406220Test/
الإتاحة: https://doi.org/10.1001/jamaneurol.2021.2598Test
http://hdl.handle.net/11365/1181203Test
https://jamanetwork.com/journals/jamaneurology/fullarticle/2783665Test
https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8406220Test/ -
5دورية أكاديمية
المؤلفون: Gilley, J, Jackson, O, Pipis, M, Estiar, MA, Al-Chalabi, A, Danzi, MC, van Eijk, KR, Goutman, SA, Harms, MB, Houlden, H, Iacoangeli, A, Kaye, J, Lima, L, Ravits, J, Rouleau, GA, Schüle, R, Xu, J, Züchner, S, Cooper-Knock, J, Gan-Or, Z, Reilly, MM, Coleman, MP
المصدر: eLife , 10 (2021) (In press).
مصطلحات موضوعية: Genetics, genomics, human, neuroscience
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10140359/1/Houlden_Enrichment%20of%20sarm1%20alleles%20encoding%20variants%20with%20constitutively%20hyperactive%20nadase%20in%20patients%20with%20als%20and%20other%20motor%20nerve%20disorders_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10140359Test/
الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10140359/1/Houlden_Enrichment%20of%20sarm1%20alleles%20encoding%20variants%20with%20constitutively%20hyperactive%20nadase%20in%20patients%20with%20als%20and%20other%20motor%20nerve%20disorders_AAM.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10140359Test/ -
6دورية أكاديمية
المؤلفون: Gilley, J., Jackson, O., Pipis, M., Estiar, M.A., Al-Chalabi, A., Danzi, M.C., van Eijk, K.R., Goutman, S.A., Harms, M.B., Houlden, H., Iacoangeli, A., Kaye, J., Lima, L., Ravits, J., Rouleau, G.A., Schüle, R., Xu, J., Züchner, S., Cooper-Knock, J., Gan-Or, Z., Reilly, M.M., Coleman, M.P.
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/181754/8/elife-70905-v3.pdfTest; Gilley, J., Jackson, O., Pipis, M. et al. (19 more authors) (2021) Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders. eLife, 10. e70905. ISSN 2050-084X
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7دورية أكاديمية
المؤلفون: Turner M. R., Barohn R. J., Corcia P., Fink J. K., Harms M. B., Kiernan M. C., Ravits J., Silani V., Simmons Z., Statland J., Van Den Berg L. H., Mitsumoto H.
المساهمون: M.R. Turner, R.J. Barohn, P. Corcia, J.K. Fink, M.B. Harm, M.C. Kiernan, J. Ravit, V. Silani, Z. Simmon, J. Statland, L.H. Van Den Berg, H. Mitsumoto
مصطلحات موضوعية: Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32029539; info:eu-repo/semantics/altIdentifier/wos/WOS:000523679000007; volume:91; issue:4; firstpage:373; lastpage:377; numberofpages:5; journal:JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY; http://hdl.handle.net/2434/716599Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85079217298
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8دورية أكاديمية
المؤلفون: Miller, T., Cudkowicz, M., Shaw, P. J., Andersen, P. M., Atassi, N., Bucelli, R. C., Genge, A., Glass, J., Ladha, S., Ludolph, A. L., Maragakis, N. J., McDermott, C. J., Pestronk, A., Ravits, J., Salachas, F., Trudell, R., Van Damme, P., Zinman, L., Bennett, C. F., Lane, R., Sandrock, A., Runz, H., Graham, D., Houshyar, H., McCampbell, A., Nestorov, I., Chang, I., McNeill, M., Fanning, L., Fradette, S., Ferguson, T. A.
المصدر: Neurology
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9تقرير
المؤلفون: Phatnani, H, Kwan, J, Sareen, D, Broach, JR, Simmons, Z, Arcila-Londono, X, Lee, EB, Van Deerlin, VM, Shneider, NA, Fraenkel, E, Ostrow, LW, Baas, F, Zaitlen, N, Berry, JD, Malaspina, A, Fratta, P, Cox, GA, Thompson, LM, Finkbeiner, S, Dardiotis, E, Miller, TM, Chandran, S, Pal, S, Hornstein, E, MacGowan, DJ, Heiman-Patterson, T, Hammell, MG, Patsopoulos, NA, Butovsky, O, Dubnau, J, Nath, A, Bowser, R, Harms, M, Poss, M, Phillips-Cremins, J, Crary, J, Atassi, N, Lange, DJ, Adams, DJ, Stefanis, L, Gotkine, M, Baloh, RH, Babu, S, Raj, T, Paganoni, S, Shalem, O, Smith, C, Zhang, B, Harris, B, Broce, I, Drory, V, Ravits, J, McMillan, C, Menon, V, Wu, L, Altschuler, S, Li, J, Lim, RG, Kaye, JA, Dardov, V, Coyne, AN, Wu, J, Milani, P, Cheng, A, Thompson, TG, Ornelas, L, Frank, A, Adam, M, Banuelos, MG, Casale, M, Cox, V, Escalante-Chong, R, Daigle, JG, Gomez, E, Hayes, L, Holewenski, R, Lei, S, Lenail, A, Lima, L, Mandefro, B, Matlock, A, Panther, L, Patel-Murray, NL, Pham, J, Ramamoorthy, D, Sachs, K, Shelley, B, Stocksdale, J, Trost, H, Wilhelm, M, Venkatraman, V, Wassie, BT, Wyman, S, Yang, S, Van Eyk, JE, Lloyd, TE, Rothstein, JD, Svendsen, CN
مصطلحات موضوعية: amyotrophic lateral sclerosis, motor neurons, stem cells
وصف الملف: application/pdf
العلاقة: http://repository.cshl.edu/id/eprint/40511/1/2021.NeuroLINCS.ALS.pdfTest; Phatnani, H, Kwan, J, Sareen, D, Broach, JR, Simmons, Z, Arcila-Londono, X, Lee, EB, Van Deerlin, VM, Shneider, NA, Fraenkel, E, Ostrow, LW, Baas, F, Zaitlen, N, Berry, JD, Malaspina, A, Fratta, P, Cox, GA, Thompson, LM, Finkbeiner, S, Dardiotis, E, Miller, TM, Chandran, S, Pal, S, Hornstein, E, MacGowan, DJ, Heiman-Patterson, T, Hammell, MG, Patsopoulos, NA, Butovsky, O, Dubnau, J, Nath, A, Bowser, R, Harms, M, Poss, M, Phillips-Cremins, J, Crary, J, Atassi, N, Lange, DJ, Adams, DJ, Stefanis, L, Gotkine, M, Baloh, RH, Babu, S, Raj, T, Paganoni, S, Shalem, O, Smith, C, Zhang, B, Harris, B, Broce, I, Drory, V, Ravits, J, McMillan, C, Menon, V, Wu, L, Altschuler, S, Li, J, Lim, RG, Kaye, JA, Dardov, V, Coyne, AN, Wu, J, Milani, P, Cheng, A, Thompson, TG, Ornelas, L, Frank, A, Adam, M, Banuelos, MG, Casale, M, Cox, V, Escalante-Chong, R, Daigle, JG, Gomez, E, Hayes, L, Holewenski, R, Lei, S, Lenail, A, Lima, L, Mandefro, B, Matlock, A, Panther, L, Patel-Murray, NL, Pham, J, Ramamoorthy, D, Sachs, K, Shelley, B, Stocksdale, J, Trost, H, Wilhelm, M, Venkatraman, V, Wassie, BT, Wyman, S, Yang, S, Van Eyk, JE, Lloyd, TE, Finkbeiner, S, Rothstein, JD, Svendsen, CN (November 2021) An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients. iScience, 24 (11). p. 103221. ISSN 2589-0042
الإتاحة: https://doi.org/10.1016Test/j.isci.2021.103221
http://repository.cshl.edu/id/eprint/40511Test/
http://repository.cshl.edu/id/eprint/40511/1/2021.NeuroLINCS.ALS.pdfTest -
10دورية أكاديمية
المؤلفون: Bandres-Ciga S., Noyce A. J., Hemani G., Nicolas A., Calvo A., Mora G., Arosio A., Barberis M., Bartolomei I., Battistini S., Benigni M., Borghero G., Brunetti M., Cammarosano S., Cannas A., Canosa A., Capasso M., Caponnetto C., Caredda C., Carrera P., Casale F., Cavallaro S., Chio A., Colletti T., Conforti F. L., Conte A., Corrado L., Costantino E., D'Alfonso S., Fasano A., Femiano C., Ferrarese C., Fini N., Floris G., Fuda G., Giannini F., Grassano M., Ilardi A., La Bella V., Lattante S., Logroscino G., Logullo F. O., Loi D., Lunetta C., Mancardi G., Mandich P., Mandrioli J., Manera U., Marangi G., Marinou K., Marrali G., Marrosu M. G., Mazzini L., Melis M., Messina S., Moglia C., Monsurro M. R., Mosca L., Occhineri P., Origone P., Pani C., Penco S., Petrucci A., Piccirillo G., Pirisi A., Pisano F., Pugliatti M., Restagno G., Ricci C., Rita Murru M., Riva N., Sabatelli M., Salvi F., Santarelli M., Sideri R., Simone I., Spataro R., Tanel R., Tedeschi G., Tranquilli S., Tremolizzo L., Trojsi F., Volanti P., Zollino M., Abramzon Y., Arepalli S., Baloh R. H., Bowser R., Brady C. B., Brice A., Broach J., Campbell R. H., Camu W., Chia R., Cooper-Knock J., Cusi D., Ding J., Drepper C., Drory V. E., Dunckley T. L., Eicher J. D., Faghri F., Feldman E., Kay Floeter M., Fratta P., Geiger J. T., Gerhard G., Gibbs J. R., Gibson S. B., Glass J. D., Hardy J., Harms M. B., Heiman-Patterson T. D., Hernandez D. G., Jansson L., Kamel F., Kirby J., Kowall N. W., Laaksovirta H., Le Ber I., Lumbroso S., MacGowan D. J. L., Maragakis N. J., Mouzat K., Murphy N. A., Myllykangas L., Nalls M. A., Orrell R. W., Ostrow L. W., Pamphlett R., Pickering-Brown S., Pioro E., Pliner H. A., Pulst S. M., Ravits J. M., Renton A. E., Rivera A., Robbrecht W., Rogaeva E., Rollinson S., Rothstein J. D., Salvi E., Scholz S. W., Sendtner M., Shaw P. J., Sidle K. C., Simmons Z., Singleton A. B., Stone D. C., Sulkava R., Tienari P. J., Traynor B. J., Trojanowski J. Q., Troncoso J. C., Van Damme P., Van Deerlin V. M., Van Den Bosch L., Zinman L., Stone D. J.
المساهمون: Bandres-Ciga, S., Noyce, A. J., Hemani, G., Nicolas, A., Calvo, A., Mora, G., Arosio, A., Barberis, M., Bartolomei, I., Battistini, S., Benigni, M., Borghero, G., Brunetti, M., Cammarosano, S., Cannas, A., Canosa, A., Capasso, M., Caponnetto, C., Caredda, C., Carrera, P., Casale, F., Cavallaro, S., Chio, A., Colletti, T., Conforti, F. L., Conte, A., Corrado, L., Costantino, E., D'Alfonso, S., Fasano, A., Femiano, C., Ferrarese, C., Fini, N., Floris, G., Fuda, G., Giannini, F., Grassano, M., Ilardi, A., La Bella, V., Lattante, S., Logroscino, G., Logullo, F. O., Loi, D., Lunetta, C., Mancardi, G., Mandich, P., Mandrioli, J., Manera, U., Marangi, G., Marinou, K., Marrali, G., Marrosu, M. G., Mazzini, L., Melis, M., Messina, S., Moglia, C., Monsurro, M. R., Mosca, L., Occhineri, P., Origone, P., Pani, C., Penco, S., Petrucci, A., Piccirillo, G., Pirisi, A., Pisano, F., Pugliatti, M., Restagno, G., Ricci, C., Rita Murru, M., Riva, N., Sabatelli, M., Salvi, F., Santarelli, M., Sideri, R., Simone, I., Spataro, R., Tanel, R., Tedeschi, G., Tranquilli, S., Tremolizzo, L., Trojsi, F., Volanti, P., Zollino, M., Abramzon, Y., Arepalli, S., Baloh, R. H., Bowser, R., Brady, C. B., Brice, A., Broach, J., Campbell, R. H., Camu, W., Chia, R., Cooper-Knock, J., Cusi, D., Ding, J., Drepper, C., Drory, V. E., Dunckley, T. L.
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30723964; info:eu-repo/semantics/altIdentifier/wos/WOS:000466415500003; volume:85; issue:4; firstpage:470; lastpage:481; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/11380/1251845Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85062936004
النص الكامل