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: Armirola-Ricaurte, C, Zonnekein, N, Koutsis, G, Amor-Barris, S, Pelayo-Negro, AL, Atkinson, D, Efthymiou, S, Turchetti, V, Dinopoulos, A, Garcia, A, Karakaya, M, Moris, G, Polat, AI, Yiş, U, Espinos, C, Van de Vondel, L, De Vriendt, E, Karadima, G, Wirth, B, Hanna, M, Houlden, H, Berciano, J, Jordanova, A

المصدر: Genetics in Medicine , 26 (6) , Article 101117. (2024)

مصطلحات موضوعية: Charcot-Marie-Tooth, Mitochondrial disorders, NDUFS6, Peripheral neuropathy, Splicing

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10191565/1/1-s2.0-S1098360024000509-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10191565/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10191565/1/1-s2.0-S1098360024000509-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10191565/

المؤلفون: Uebachs, M, Wegner, P, Schaaf, S, Kugai, S, Jacobi, H, Kuo, SH, Ashizawa, T, Fluck, J, du Montcel, ST, Bauer, P, Giunti, P, Cook, A, Labrum, R, Parkinson, MH, Durr, A, Brice, A, Charles, P, Marelli, C, Mariotti, C, Nanetti, L, Panzeri, M, Rakowicz, M, Sulek, A, Sobanska, A, Schmitz-Hübsch, T, Schöls, L, Hengel, H, Baliko, L, Melegh, B, Filla, A, Antenora, A, Infante, J, Berciano, J, van de Warrenburg, BP, Timmann, D, Szymanski, S, Boesch, S, Kang, JS, Pandolfo, M, Schulz, JB, Molho, S, Diallo, A, Grobe-Einsler, M, Önder, D, Raposo, M, Vasconcelos, J, Lima, M, de Almeida, LP, Silva, P, Cunha, I, Garcia-Moreno, H, Manso, K, Synofzik, M, Traschütz, A, van de Warrenburg, B, van Gaalen, J, Perbolt, T, Bushara, K, Hutter, D, Manrique, L, Thieme, A, Erdlenbruch, F, Onyike, C, Fishman, A, Reetz, K, Dogan, I, Ratai, E, Schmahmann, J, Santana, M, Hübener-Schmid, J, Romanzetti, S, Harmuth, F, Makowicz, G, Roca, A, Casalo, C, Masciullo, M, Nachbauer, W, Bürk-Gergs, K, Riess, O, Figueroa, KP, Perlman, SL, Gomez, CM, Wilmot, GR

المصدر: Cerebellum (2023) (In press).

مصطلحات موضوعية: Observational studies, Spinocerebellar ataxia (SCA), Visualization

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10168996/1/s12311-023-01546-0.pdf; https://discovery.ucl.ac.uk/id/eprint/10168996/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10168996/1/s12311-023-01546-0.pdf
https://discovery.ucl.ac.uk/id/eprint/10168996/

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 R. H., Albajar 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., Koc M., Kumar K. R., Kuntzer T., Laing N., Laura 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., Azahbaz 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., Lopez De Munain 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.

المساهمون: 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, Cavalcanti, F, Hammans, S, Ravenscroft, G, Roxburgh, R, Albajar, I, Ashton, C, Beauchamp, N, Beecroft, S, 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, 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, Koc, M, Kumar, K, Kuntzer, T, Laing, N, Laura, M, Lavin, T, Leigh, P, Leonardis, L, Lunn, M, Magri, S, Magrinelli, F, Malaquias, M, Mancuso, M, Manji, H, Massucco, S, Mcconville, J, Munhoz, R, Nagy, S, Ndayisaba, A, Nemeth, A, Novis, L, 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, Azahbaz, I, Sa'Di, Q, Salsano, E, Salvalaggio, A, Santoro, L, Sarto, E

مصطلحات موضوعية: Ataxia, CANVAS, Neuropathy, Repeat expansion, RFC1, Southern blotting

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/38193360; info:eu-repo/semantics/altIdentifier/wos/WOS:001207431000001; volume:147; issue:5; firstpage:1887; lastpage:1898; numberofpages:12; journal:BRAIN; https://hdl.handle.net/10281/527823

الاتاحة: https://hdl.handle.net/10281/527823
https://doi.org/10.1093/brain/awad436

المؤلفون: Berciano, J.

المصدر: Neurología ; volume 37, issue 6, page 466-479 ; ISSN 0213-4853

الاتاحة: http://dx.doi.org/10.1016/j.nrl.2018.06.002
https://api.elsevier.com/content/article/PII:S0213485318301762?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0213485318301762?httpAccept=text/plain

المؤلفون: Berciano, J.

المصدر: Neurología (English Edition) ; volume 37, issue 6, page 466-479 ; ISSN 2173-5808

الاتاحة: http://dx.doi.org/10.1016/j.nrleng.2020.08.001
https://api.elsevier.com/content/article/PII:S2173580820301553?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2173580820301553?httpAccept=text/plain

المؤلفون: Gazulla J., Izquierdo-Alvarez S., Ruiz-Fernández E., Lázaro-Romero A., Berciano J.

وصف الملف: application/pdf

Relation: http://zaguan.unizar.es/record/117404

الاتاحة: http://zaguan.unizar.es/record/117404
https://doi.org/10.1159/000515974

المؤلفون: Berciano, J.

المصدر: Neurología (English Edition) ; volume 35, issue 7, page 506-507 ; ISSN 2173-5808

الاتاحة: http://dx.doi.org/10.1016/j.nrleng.2019.01.009
https://api.elsevier.com/content/article/PII:S2173580820301425?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2173580820301425?httpAccept=text/plain

المؤلفون: Berciano, J.

المصدر: Neurología ; volume 35, issue 7, page 506-507 ; ISSN 0213-4853

الاتاحة: http://dx.doi.org/10.1016/j.nrl.2019.01.002
https://api.elsevier.com/content/article/PII:S0213485319300283?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0213485319300283?httpAccept=text/plain

المؤلفون: Berciano, J.

المصدر: Neurología (English Edition) ; volume 35, issue 1, page 58 ; ISSN 2173-5808

الاتاحة: http://dx.doi.org/10.1016/j.nrleng.2017.07.003
https://api.elsevier.com/content/article/PII:S2173580819300689?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2173580819300689?httpAccept=text/plain

المؤلفون: Berciano, J.

المصدر: Neurología ; volume 35, issue 1, page 58 ; ISSN 0213-4853

الاتاحة: http://dx.doi.org/10.1016/j.nrl.2017.07.011
https://api.elsevier.com/content/article/PII:S0213485317302578?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0213485317302578?httpAccept=text/plain

المؤلفون: Diallo, A, Jacobi, H, Cook, A, Giunti, P, Parkinson, MH, Labrum, R, Durr, A, Brice, A, Charles, P, Marelli, C, Mariotti, C, Nanetti, L, Panzeri, M, Castaldo, A, Rakowicz, M, Rola, R, Sulek, A, Schmitz-Hübsch, T, Schöls, L, Hengel, H, Baliko, L, Melegh, B, Filla, A, Antenora, A, Infante, J, Berciano, J, van de Warrenburg, BP, Timmann, D, Boesch, S, Nachbauer, W, Pandolfo, M, Schulz, JB, Bauer, P, Jun-Suk, K, Klockgether, T, Tezenas du Montcel, S

المصدر: Movement Disorders , 34 (8) pp. 1220-1227. (2019) (In press).

مصطلحات موضوعية: EPOCE, EUROSCA study, dynamic predictions, longitudinal data, spinocerebellar ataxia

Relation: https://discovery.ucl.ac.uk/id/eprint/10079139/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10079139/

المؤلفون: Gazulla, J., Ferrer, I., Berciano, J.

المصدر: Journal of Neurology ; volume 267, issue 2, page 574-574 ; ISSN 0340-5354 1432-1459

الاتاحة: http://dx.doi.org/10.1007/s00415-019-09653-x
http://link.springer.com/content/pdf/10.1007/s00415-019-09653-x.pdf
http://link.springer.com/article/10.1007/s00415-019-09653-x/fulltext.html

المؤلفون: Riancho, J., Gonzalo, I., Ruiz-Soto, M., Berciano, J.

المصدر: Neurología (English Edition) ; volume 34, issue 1, page 27-37 ; ISSN 2173-5808

الاتاحة: http://dx.doi.org/10.1016/j.nrleng.2015.12.019
https://api.elsevier.com/content/article/PII:S2173580817301633?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2173580817301633?httpAccept=text/plain

المؤلفون: Riancho, J., Gonzalo, I., Ruiz-Soto, M., Berciano, J.

المصدر: Neurología ; volume 34, issue 1, page 27-37 ; ISSN 0213-4853

الاتاحة: http://dx.doi.org/10.1016/j.nrl.2015.12.001
https://api.elsevier.com/content/article/PII:S0213485316000025?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0213485316000025?httpAccept=text/plain

المؤلفون: Jacobi, H, Tezenas du Montcel, S, Bauer, P, Giunti, P, Cook, A, Labrum, R, Parkinson, MH, Durr, A, Brice, A, Charles, P, Marelli, C, Mariotti, C, Nanetti, L, Sarro, L, Rakowicz, M, Sulek, A, Sobanska, A, Schmitz-Hübsch, T, Schöls, L, Hengel, H, Baliko, L, Melegh, B, Filla, A, Antenora, A, Infante, J, Berciano, J, van de Warrenburg, BP, Timmann, D, Szymanski, S, Boesch, S, Nachbauer, W, Kang, JS, Pandolfo, M, Schulz, JB, Tanguy Melac, A, Diallo, A, Klockgether, T

المصدر: Journal of Neurology , 265 (9) pp. 2040-2051. (2018)

مصطلحات موضوعية: Spinocerebellar ataxia, Depression, Quality of life, ADL, Natural history studies, Trinucleotide repeat diseases

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10051847/1/Giunti_PROMs%20in%20the%20most%20common%20SCAs-revised-cleaned.pdf; https://discovery.ucl.ac.uk/id/eprint/10051847/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10051847/1/Giunti_PROMs%20in%20the%20most%20common%20SCAs-revised-cleaned.pdf
https://discovery.ucl.ac.uk/id/eprint/10051847/

المؤلفون: Sivera R, Frasquet M, Lupo V, Garcia-Sobrino T, Blanco-Arias P, Pardo J, Fernandez-Torron R, De Munain AL, Marquez-Infante C, Villarreal L, Carbonell P, Rojas-Garcia R, Segovia S, Illa I, Frongia AL, Nascimento A, Ortez C, Garcia-Romero MDM, Pascual SI, Pelayo-Negro AL, Berciano J, Guerrero A, Casasnovas C, Camacho A, Esteban J, Chumillas MJ, Barreiro M, DIaz C, Palau F, Vilchez JJ, Espinos C, Sevilla T

المصدر: Scientific Reports, 1 December 2017

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/240377; https://eprints.ncl.ac.uk/fulltext.aspx?url=240377/737A3FDF-80BF-43B1-B339-AC5848A2CBCF.pdf&pub_id=240377

الاتاحة: https://eprints.ncl.ac.uk/240377

المؤلفون: Sanchez-Juan, P. (Pascual), Bishop, M.T. (Matthew), Kovacs, G.G. (Gabor), Calero, M. (Miguel), Aulchenko, Y.S. (Yurii), Ladogana, A. (Anna), Boyd, A. (Alison), Lewis, V. (Victoria), Ponto, C. (Claudia), Calero, O. (Olga), Poleggi, A. (Anna), Carracedo, A. (Angel), Lee, S.J. (Sven) van der, Ströbel, T. (Thomas), Rivadeneira Ramirez, F. (Fernando), Hofman, A. (Albert), Haik, S., Combarros, O. (Onofre), Berciano, J. (José), Uitterlinden, A.G. (André), Collins, S.J. (Steven), Budka, H. (Herbert), Brandel, J-P. (Jean-Philippe), Laplanche, J.-L. (Jean-Louis), Pocchiari, M. (Maurizio), Zerr, I. (Inga), Knight, R. (Richard), Will, R.G. (Robert), Duijn, C.M. (Cornelia) van

المصدر: PLoS ONE vol. 10 no. 4

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/EC/FP7/222887; http://repub.eur.nl/pub/78901; urn:hdl:1765/78901

الاتاحة: http://repub.eur.nl/pub/78901
https://doi.org/10.1371/journal.pone.0123654

المؤلفون: Sanchez-Juan, P, Bishop, MT, Kovacs, GG, Calero, M, Aulchenko, YS, Ladogana, A, Boyd, A, Lewis, V, Ponto, C, Calero, O, Poleggi, A, Carracedo, A, van der Lee, SJ, Stroebel, T, Rivadeneira, F, Hofman, A, Haik, S, Combarros, O, Berciano, J, Uitterlinden, AG, Collins, SJ, Budka, H, Brandel, J-P, Louis Laplanche, J, Pocchiari, M, Zerr, I, Knight, RSG, Will, RG, van Duijn, CM

المساهمون: Zanusso, G

Relation: NHMRC/1005816; pii: PONE-D-15-00740; Sanchez-Juan, P., Bishop, M. T., Kovacs, G. G., Calero, M., Aulchenko, Y. S., Ladogana, A., Boyd, A., Lewis, V., Ponto, C., Calero, O., Poleggi, A., Carracedo, A., van der Lee, S. J., Stroebel, T., Rivadeneira, F., Hofman, A., Haik, S., Combarros, O., Berciano, J. ,. van Duijn, C. M. (2015). A Genome Wide Association Study Links Glutamate Receptor Pathway to Sporadic Creutzfeldt-Jakob Disease Risk. PLOS ONE, 10 (4), https://doi.org/10.1371/journal.pone.0123654.; http://hdl.handle.net/11343/55363

الاتاحة: http://hdl.handle.net/11343/55363

المؤلفون: CRISCUOLO, CHIARA, SACCA', FRANCESCO, DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO, MANCINI P, COMBARROS O, INFANTE J, GARCIA A, BANFI S, BERCIANO J.

المساهمون: Criscuolo, Chiara, Sacca', Francesco, DE MICHELE, Giuseppe, Mancini, P, Combarros, O, Infante, J, Garcia, A, Banfi, S, Filla, Alessandro, Berciano, J.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000232749300016; volume:20; firstpage:1358; lastpage:1361; numberofpages:4; journal:MOVEMENT DISORDERS; http://hdl.handle.net/11588/204199; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-27844446656

الاتاحة: http://hdl.handle.net/11588/204199