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1دورية أكاديمية
المؤلفون: Indelicato, E, Reetz, K, Maier, S, Nachbauer, W, Amprosi, M, Giunti, P, Mariotti, C, Durr, A, de Rivera Garrido, FJR, Klopstock, T, Schöls, L, Klockgether, T, Bürk, K, Pandolfo, M, Didszun, C, Grobe-Einsler, M, Nanetti, L, Nenning, L, Kiechl, S, Dichtl, W, Ulmer, H, Schulz, JB, Boesch, S
المصدر: Movement Disorders (2023) (In press).
مصطلحات موضوعية: Friedreich's ataxia, cardiomyopathy, diabetes mellitus, disability stage, survival
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10184905/1/Predictors%20of%20Survival%20in%20Friedreich%20s%20Ataxia.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10184905Test/
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2دورية أكاديمية
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
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10168996/1/s12311-023-01546-0.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10168996Test/
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3دورية أكاديمية
المؤلفون: Magri S., Nanetti L., Gellera C., Sarto E., Rizzo E., Mongelli A., Ricci B., Fancellu R., Sambati L., Cortelli P., Brusco A., Bruzzone M. G., Mariotti C., Di Bella D., Taroni F.
المساهمون: Magri S., Nanetti L., Gellera C., Sarto E., Rizzo E., Mongelli A., Ricci B., Fancellu R., Sambati L., Cortelli P., Brusco A., Bruzzone M.G., Mariotti C., Di Bella D., Taroni F.
مصطلحات موضوعية: CHIP, Digenic disease, Huntington disease-like phenotype, Polyglutamine, Spinocerebellar ataxia
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34906452; info:eu-repo/semantics/altIdentifier/wos/WOS:000819827500004; volume:24; issue:1; firstpage:29; lastpage:40; numberofpages:12; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11585/858553Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122410754; https://www.sciencedirect.com/science/article/pii/S1098360021011175?via=ihubTest
الإتاحة: https://doi.org/10.1016/j.gim.2021.08.003Test
https://hdl.handle.net/11585/858553Test
https://www.sciencedirect.com/science/article/pii/S1098360021011175?via=ihubTest -
4دورية أكاديمية
المؤلفون: Nanetti, L., Kearney, M., Boesch, S., Stovickova, L., Ortigoza-Escobar, J.D., Macaya, A., Gomez-Andres, D., Roze, E., Molnar, M.J., Wolf, N.I., Darling, A., Vasco, G., Bertini, E., Indelicato, E., Neubauer, D., Haack, T.B., Sagi, J.C., Danti, F.R., Sival, D., Zanni, G., Kolk, A., Boespflug-Tanguy, O., Schols, L., Warrenburg, B.P.C. van de, Vidailhet, M., Willemsen, M.A., Buizer, A.I., Orzes, E., Ripp, S., Reinhard, C., Moroni, I., Mariotti, C.
المصدر: Neurological Sciences, 45, 3, pp. 1007-1016
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience
الإتاحة: https://doi.org/10.1007/s10072-023-07101-3Test
https://repository.ubn.ru.nl/handle/2066/303453Test -
5دورية أكاديمية
المؤلفون: Hohenfeld, C, Terstiege, U, Dogan, I, Giunti, P, Parkinson, MH, Mariotti, C, Nanetti, L, Fichera, M, Durr, A, Ewenczyk, C, Boesch, S, Nachbauer, W, Klopstock, T, Stendel, C, Rodríguez de Rivera Garrido, FJ, Schöls, L, Hayer, SN, Klockgether, T, Giordano, I, Didszun, C, Rai, M, Pandolfo, M, Rauhut, H, Schulz, JB, Reetz, K
المصدر: Scientific Reports , 12 , Article 19173. (2022)
مصطلحات موضوعية: Neurological disorders, Translational research
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10160294/1/s41598-022-23666-z.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10160294Test/
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6دورية أكاديمية
المؤلفون: Pozzi E., Giorgio E., Mancini C., Lo Buono N., Augeri S., Ferrero M., Di Gregorio E., Riberi E., Vinciguerra M., Nanetti L., Bianchi F. T., Sassi M. P., Costanzo V., Mariotti C., Funaro A., Cavalieri S., Brusco A.
المساهمون: Pozzi E., Giorgio E., Mancini C., Lo Buono N., Augeri S., Ferrero M., Di Gregorio E., Riberi E., Vinciguerra M., Nanetti L., Bianchi F.T., Sassi M.P., Costanzo V., Mariotti C., Funaro A., Cavalieri S., Brusco A.
مصطلحات موضوعية: ATM, ataxia talangiectasia, dexamethasone, alternative splicing
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33214630; info:eu-repo/semantics/altIdentifier/wos/WOS:000594636900001; volume:10; firstpage:1; lastpage:8; numberofpages:8; journal:SCIENTIFIC REPORTS; http://hdl.handle.net/2318/1764210Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85096337907; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7677391Test/
الإتاحة: https://doi.org/10.1038/s41598-020-77352-zTest
http://hdl.handle.net/2318/1764210Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7677391Test/ -
7دورية أكاديمية
المؤلفون: Reetz, K, Dogan, I, Hilgers, R-D, Giunti, P, Parkinson, MH, Mariotti, C, Nanetti, L, Durr, A, Ewenczyk, C, Boesch, S, Nachbauer, W, Klopstock, T, Stendel, C, Rodríguez de Rivera Garrido, FJ, Rummey, C, Schöls, L, Hayer, SN, Klockgether, T, Giordano, I, Didszun, C, Rai, M, Pandolfo, M, Schulz, JB, EFACTS study group, .
المصدر: The Lancet Neurology , 20 (5) pp. 362-372. (2021)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10126201/1/Giunti_20201214_EFACTS_4y_manuscript-highlighted.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10126201Test/
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8مؤتمر
المؤلفون: Pizzorni N, Sassone J, Rossi A, Pirola F, Nanetti L, Mariotti C, Stamba Badiale M, Silani V, Ciammola A, Schindler A.
المساهمون: N. Pizzorni, J. Sassone, A. Rossi, F. Pirola, L. Nanetti, C. Mariotti, M. Stamba Badiale, V. Silani, A. Ciammola, A. Schindler
مصطلحات موضوعية: Settore MED/31 - Otorinolaringoiatria, Settore MED/32 - Audiologia, Settore MED/50 - Scienze Tecniche Mediche Applicate, Settore MED/26 - Neurologia
العلاقة: Annual Meeting of the Japanese Society of Dysphagia Rehabilitation; http://hdl.handle.net/2434/676937Test
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9دورية أكاديمية
المؤلفون: Schindler A., Pizzorni N., Sassone J., Nanetti L., Castaldo A., Poletti B., Solca F., Pirola F., Lazzari L., Stramba-Badiale M., Rossi A., Silani V., Mariotti C., Ciammola A.
المساهمون: A. Schindler, N. Pizzorni, J. Sassone, L. Nanetti, A. Castaldo, B. Poletti, F. Solca, F. Pirola, L. Lazzari, M. Stramba-Badiale, A. Rossi, V. Silani, C. Mariotti, A. Ciammola
مصطلحات موضوعية: Settore MED/26 - Neurologia, Settore MED/32 - Audiologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32943712; info:eu-repo/semantics/altIdentifier/wos/WOS:000573742900016; volume:10; issue:1; firstpage:1; lastpage:8; numberofpages:8; journal:SCIENTIFIC REPORTS; http://hdl.handle.net/2434/767123Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85091046594
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10دورية أكاديمية
المؤلفون: Hayer, SN, Liepelt, I, Barro, C, Wilke, C, Kuhle, J, Martus, P, Schoels, L, Schulz, JB, Reetz, K, Fedosov, K, Didszun, C, Klockgether, T, Giordano, I, Pandolfo, M, Depondt, C, Rai, M, Boesch, S, Nachbauer, W, Eigentler, A, Indelicato, E, Giunti, P, Parkinson, M, Manso, K, Thomas-Black, G, Garcia-Moreno, H, Solanky, N, Abeti, R, Polke, J, Labrum, R, Garrido, RDRFJ, Mascias, J, Velasco, SS, Garcia, SS, Mariotti, C, Nanetti, L, Castaldo, A, Mongelli, A, Fichera, M, Klopstock, T, Karin, I, Stendel, C, Radelfahr, F, Durr, A, Biet, M, Charles, P, Ewenczyk, C, Just, J, Koutsis, G, Walsh, R, Bertini, E
المصدر: Journal of Neurology , 267 pp. 1420-1430. (2020)
مصطلحات موضوعية: Neurofilament light chain, NfL, Friedreich’s ataxia, Biomarker, Neurofilament heavy chain, pNfH
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10092217/1/Abeti__Article_NfLAndPNfHAreIncreasedInFriedr.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10092217Test/
