المؤلفون: Curro R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernandez-Eulate G, Traschutz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good J-M, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH, Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lopez de Munain A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo S-H, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A

المصدر: Brain, 3 May 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/298555; https://eprints.ncl.ac.uk/fulltext.aspx?url=298555/95C996E5-60FB-44E7-81FA-248871F1A77D.pdf&pub_id=298555

الاتاحة: https://eprints.ncl.ac.uk/298555

المؤلفون: Currò, R., Dominik, N., Facchini, S., Vegezzi, E., Sullivan, R., Galassi Deforie, V., Fernández-Eulate, G., Traschütz, A., Rossi, S., Garibaldi, M., Kwarciany, M., Taroni, F., Brusco, A., Good, J.-M., Cavalcanti, F., Hammans, S., Ravenscroft, G., Roxburgh, R.H., Albájar, I., Ashton, C., Beauchamp, N., Beecroft, S.J., Bellone, E., Berciano, J., Bogdanova-Mihaylova, P., Borroni, B., Brais, B., Bugiardini, E., Campos, C., Carr, A., Carroll, L., Castellani, F., Cavallaro, T., Chinnery, P.F., Colnaghi, S., Cosentino, G., Damasio, J., Das, S., Devigili, G., Di Bella, D., Dick, D., Durr, A., El-Saddig, A., Faber, J., Ferrarini, M., Filosto, M., Fuller, G., Gallone, S., Gemelli, C., Grandis, M., Hardy, J., Hewamadduma, C., Horvath, R., Huin, V., Imperiale, D., Iruzubieta, P., Kaski, D., King, A., Klockgether, T., Koç, M., Kumar, K.R., Kuntzer, T., Laing, N., Laurà, M., Lavin, T., Leigh, P.N., Leonardis, L., Lunn, M.P., Magri, S., Magrinelli, F., Malaquias, M.J., Mancuso, M., Manji, H., Massucco, S., McConville, J., Munhoz, R.P., Nagy, S., Ndayisaba, A., Nemeth, A.H., Novis, L.E., Palmio, J., Pegoraro, E., Pellerin, D., Perrone, B., Pisciotta, C., Polke, J., Proudfoot, M., Orsi, L., Radunovic, A., Riva, N., Robert, A., Ronco, R., Rossini, E., Rossor, A.M., Şahbaz, I., Sa’di, Q., Salsano, E., Salvalaggio, A., Santoro, L., Sarto, E., Schaefer, A., Schenone, A., Scriba, C., Shaw, J., Silvestri, G., Stevens, J., Strupp, M., Sumner, C.J., Szymura, A., Tagliapietra, M., Tassorelli, C., Tessa, A., Theaudin, M., Tomaselli, P., Tozza, S., Tucci, A., Valente, E.M., Versino, M., Walsh, R.A., Wood, N.W., Yau, W.Y., Zuchner, S., Parolin Schnekenberg, R., Rugginini, B., Abati, E., Manini, A., Quartesan, I., Ghia, A., Lòpez de Munaìn, A., Manganelli, F., Kennerson, M., Santorelli, F.M., Infante, J., Marques, W., Jokela, M., Murphy, S.M., Mandich, P., Fabrizi, G.M., Briani, C., Gosal, D., Pareyson, D., Ferrari, A., Prados, F., Yousry, T., Khurana, V., Kuo, S.-H., Miller, J., Troakes, C., Jaunmuktane, Z., Giunti, P., Hartmann, A., Basak, N., Synofzik, M., Stojkovic, T., Hadjivassiliou, M., Reilly, M.M., Houlden, H., Cortese, A.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/216742/1/awad436.pdf; Currò, R., Dominik, N., Facchini, S. et al. (155 more authors) (2024) Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease. Brain, 147 (5). pp. 1887-1898. ISSN 0006-8950

الاتاحة: https://eprints.whiterose.ac.uk/216742/
https://eprints.whiterose.ac.uk/216742/1/awad436.pdf

المؤلفون: Quartesan I., Vegezzi E., Curro R., Heslegrave A., Pisciotta C., Iruzubieta P., Salvalaggio A., Fernandez-Eulate G., Dominik N., Rugginini B., Manini A., Abati E., Facchini S., Manso K., Albajar I., Laban R., Rossor A. M., Pichiecchio A., Cosentino G., Saveri P., Salsano E., Andreetta F., Valente E. M., Zetterberg H., Giunti P., Stojkovic T., Briani C., Lopez de Munain A., Pareyson D., Reilly M. M., Houlden H., Tassorelli C., Cortese A.

المساهمون: Quartesan, I, Vegezzi, E, Curro, R, Heslegrave, A, Pisciotta, C, Iruzubieta, P, Salvalaggio, A, Fernandez-Eulate, G, Dominik, N, Rugginini, B, Manini, A, Abati, E, Facchini, S, Manso, K, Albajar, I, Laban, R, Rossor, A, Pichiecchio, A, Cosentino, G, Saveri, P, Salsano, E, Andreetta, F, Valente, E, Zetterberg, H, Giunti, P, Stojkovic, T, Briani, C, Lopez de Munain, A, Pareyson, D, Reilly, M, Houlden, H, Tassorelli, C, Cortese, A

مصطلحات موضوعية: ataxia, biomarker, cerebellar ataxia neuropathy vestibular areflexia syndrome, neurofilament light chain, replication factor complex subunit 1

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/38054570; info:eu-repo/semantics/altIdentifier/wos/WOS:001114506200001; volume:39; issue:1; firstpage:209; lastpage:214; numberofpages:6; journal:MOVEMENT DISORDERS; https://hdl.handle.net/10281/527824

الاتاحة: https://hdl.handle.net/10281/527824
https://doi.org/10.1002/mds.29680

المؤلفون: Pocora, M.M., Avenali, M., Croce, M.G., Valentino, F., Rugginini, B., Ferrari, F., Porta, G. della, Tassorelli, C., Pacchetti, C., Zangaglia, R.

المصدر: Parkinsonism & Related Disorders ; volume 122, page 106911 ; ISSN 1353-8020

الاتاحة: http://dx.doi.org/10.1016/j.parkreldis.2024.106911
https://api.elsevier.com/content/article/PII:S1353802024009234?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1353802024009234?httpAccept=text/plain

المؤلفون: Dominik N., Magri S., Curro R., Abati E., Facchini S., Corbetta M., MacPherson H., Di Bella D., Sarto E., Stevanovski I., Chintalaphani S. R., Akcimen F., Manini A., Vegezzi E., Quartesan I., Montgomery K. -A., Pirota V., Crespan E., Perini C., Grupelli G. P., Tomaselli P. J., Marques W., Ambrose J. C., Arumugam P., Baple E. L., Bleda M., Boardman-Pretty F., Boissiere J. M., Boustred C. R., Brittain H., Caulfield M. J., Chan G. C., Craig C. E. H., Daugherty L. C., De Burca A., Devereau A., Elgar G., Foulger R. E., Fowler T., Furio-Tari P., Gustavsson E., Hackett J. M., Halai D., Hamblin A., Henderson S., Holman J. E., Hubbard T. J. P., Ibanez K., Jackson R., Jones L. J., Kasperaviciute D., Kayikci M., Lahnstein L., Lawson K., Leigh S. E. A., Leong I. U. S., Lopez F. J., Maleady-Crowe F., Mason J., McDonagh E. M., Moutsianas L., Mueller M., Murugaesu N., Need A. C., Odhams C. A., Patch C., Perez-Gil D., Polychronopoulos D., Pullinger J., Rahim T., Rendon A., Riesgo-Ferreiro P., Rogers T., Ryten M., Rugginini B., Savage K., Sawant K., Scott R. H., Siddiq A., Sieghart A., Smedley D., Smith K. R., Sosinsky A., Spooner W., Stevens H. E., Stuckey A., Sultana R., Thomas E. R. A., Thompson S. R., Tregidgo C., Tucci A., Walsh E., Watters S. A., Welland M. J., Williams E., Witkowska K., Wood S. M., Zarowiecki M., Shaw J., Polke J., Salsano E., Fenu S., Pareyson D., Pisciotta C., Tofaris G. K., Nemeth A. H., Ealing J., Radunovic A., Kearney S., Kumar K. R., Vucic S., Kennerson M., Reilly M. M., Houlden H., Deveson I., Taroni F., Cortese A.

المساهمون: Dominik, N, Magri, S, Curro, R, Abati, E, Facchini, S, Corbetta, M, Macpherson, H, Di Bella, D, Sarto, E, Stevanovski, I, Chintalaphani, S, Akcimen, F, Manini, A, Vegezzi, E, Quartesan, I, Montgomery, K, Pirota, V, Crespan, E, Perini, C, Grupelli, G, Tomaselli, P, Marques, W, Ambrose, J, Arumugam, P, Baple, E, Bleda, M, Boardman-Pretty, F, Boissiere, J, Boustred, C, Brittain, H, Caulfield, M, Chan, G, Craig, C, Daugherty, L, De Burca, A, Devereau, A, Elgar, G, Foulger, R, Fowler, T, Furio-Tari, P, Gustavsson, E, Hackett, J, Halai, D, Hamblin, A, Henderson, S, Holman, J, Hubbard, T, Ibanez, K, Jackson, R, Jones, L, Kasperaviciute, D, Kayikci, M, Lahnstein, L, Lawson, K, Leigh, S, Leong, I, Lopez, F, Maleady-Crowe, F, Mason, J, Mcdonagh, E, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A, Odhams, C, Patch, C, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Rugginini, B, Savage, K, Sawant, K, Scott, R, Siddiq, A, Sieghart, A, Smedley, D, Smith, K, Sosinsky, A, Spooner, W, Stevens, H, Stuckey, A, Sultana, R, Thomas, E, Thompson, S, Tregidgo, C, Tucci, A, Walsh, E, Watters, S, Welland, M, Williams, E, Witkowska, K, Wood, S, Zarowiecki, M, Shaw, J, Polke, J

مصطلحات موضوعية: ataxia, CANVAS, long-read sequencing, neuropathy, repeat expansion, RFC1

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/37450567; info:eu-repo/semantics/altIdentifier/wos/WOS:001100798100001; volume:146; issue:12; firstpage:5060; lastpage:5069; numberofpages:10; journal:BRAIN; https://hdl.handle.net/10281/527826

الاتاحة: https://hdl.handle.net/10281/527826
https://doi.org/10.1093/brain/awad240

المؤلفون: Hirons, B, Rhatigan, K, Curro, R, Rugginini, B, Shaw, J, Abubakar-Waziri, H, Kesavan, H, Hadden, RDM, Jolley, C, Hull, J, Cho, PSP, Cortese, A, Birring, SS

المصدر: ‘The show must go on’ – What more do we know about cough? ; page A241-A242

الاتاحة: http://dx.doi.org/10.1136/thorax-2023-btsabstracts.365
https://syndication.highwire.org/content/doi/10.1136/thorax-2023-BTSabstracts.365