المؤلفون: Rezende, TJR, Adanyeguh, IM, Arrigoni, F, Bender, B, Cendes, F, Corben, LA, Deistung, A, Delatycki, M, Dogan, I, Egan, GF, Göricke, SL, Georgiou-Karistianis, N, Henry, P-G, Hutter, D, Jahanshad, N, Joers, JM, Lenglet, C, Lindig, T, Martinez, ARM, Martinuzzi, A, Paparella, G, Peruzzo, D, Reetz, K, Romanzetti, S, Schöls, L, Schulz, JB, Synofzik, M, Thomopoulos, SI, Thompson, PM, Timmann, D, Harding, IH, França, MC

العلاقة: Rezende, T. J. R., Adanyeguh, I. M., Arrigoni, F., Bender, B., Cendes, F., Corben, L. A., Deistung, A., Delatycki, M., Dogan, I., Egan, G. F., Göricke, S. L., Georgiou-Karistianis, N., Henry, P. -G., Hutter, D., Jahanshad, N., Joers, J. M., Lenglet, C., Lindig, T., Martinez, A. R. M. ,. França, M. C. (2023). Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia. Mov Disord, 38 (1), pp.45-56. https://doi.org/10.1002/mds.29261Test.; http://hdl.handle.net/11343/339798Test

الإتاحة: https://doi.org/10.1002/mds.29261Test
http://hdl.handle.net/11343/339798Test

المؤلفون: Georgiou-Karistianis, N, Corben, LA, Reetz, K, Adanyeguh, IM, Corti, M, Deelchand, DK, Delatycki, MB, Dogan, I, Evans, R, Farmer, J, França, MC, Gaetz, W, Harding, IH, Harris, KS, Hersch, S, Joules, R, Joers, JJ, Krishnan, ML, Lax, M, Lock, EF, Lynch, D, Mareci, T, Muthuhetti Gamage, S, Pandolfo, M, Papoutsi, M, Rezende, TJR, Roberts, TPL, Rosenberg, JT, Romanzetti, S, Schulz, JB, Schilling, T, Schwarz, AJ, Subramony, S, Yao, B, Zicha, S, Lenglet, C, Henry, P-G

المساهمون: Bergsland, N

العلاقة: pii: PONE-D-21-38765; Georgiou-Karistianis, N., Corben, L. A., Reetz, K., Adanyeguh, I. M., Corti, M., Deelchand, D. K., Delatycki, M. B., Dogan, I., Evans, R., Farmer, J., França, M. C., Gaetz, W., Harding, I. H., Harris, K. S., Hersch, S., Joules, R., Joers, J. J., Krishnan, M. L., Lax, M. ,. Henry, P. -G. (2022). A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol. PLoS One, 17 (11), pp.e0269649-. https://doi.org/10.1371/journal.pone.0269649Test.; http://hdl.handle.net/11343/335501Test

الإتاحة: https://doi.org/10.1371/journal.pone.0269649Test
http://hdl.handle.net/11343/335501Test

المؤلفون: Harding, IH, Chopra, S, Arrigoni, F, Boesch, S, Brunetti, A, Cocozza, S, Corben, LA, Deistung, A, Delatycki, M, Diciotti, S, Dogan, I, Evangelisti, S, Franca, MC, Goericke, SL, Georgiou-Karistianis, N, Gramegna, LL, Henry, P-G, Hernandez-Castillo, CR, Hutter, D, Jahanshad, N, Joers, JM, Lenglet, C, Lodi, R, Manners, DN, Martinez, ARM, Martinuzzi, A, Marzi, C, Mascalchi, M, Nachbauer, W, Pane, C, Peruzzo, D, Pisharady, PK, Pontillo, G, Reetz, K, Rezende, TJR, Romanzetti, S, Sacca, F, Scherfler, C, Schulz, JB, Stefani, A, Testa, C, Thomopoulos, S, Timmann, D, Tirelli, S, Tonon, C, Vavla, M, Egan, GF, Thompson, PM

العلاقة: Harding, I. H., Chopra, S., Arrigoni, F., Boesch, S., Brunetti, A., Cocozza, S., Corben, L. A., Deistung, A., Delatycki, M., Diciotti, S., Dogan, I., Evangelisti, S., Franca, M. C., Goericke, S. L., Georgiou-Karistianis, N., Gramegna, L. L., Henry, P. -G., Hernandez-Castillo, C. R., Hutter, D. ,. Thompson, P. M. (2021). Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA-Ataxia Working Group. ANNALS OF NEUROLOGY, 90 (4), pp.570-583. https://doi.org/10.1002/ana.26200Test.; http://hdl.handle.net/11343/301507Test

الإتاحة: https://doi.org/10.1002/ana.26200Test
http://hdl.handle.net/11343/301507Test

المؤلفون: Faber, J, Schaprian, T, Berkan, K, Reetz, K, Franca, MC, Rezende, TJR, Hong, J, Liao, W, Warrenburg, B, Gaalen, J, Durr, A, Mochel, F, Giunti, P, Garcia-Moreno, H, Schoels, L, Hengel, H, Synofzik, M, Bender, B, Oz, G, Joers, J, Vries, JJ, Kang, J-S, Timmann-Braun, D, Jacobi, H, Infante, J, Joules, R, Romanzetti, S, Diedrichsen, J, Schmid, M, Wolz, R, Klockgether, T

المصدر: Movement Disorders (2021) (In press).

مصطلحات موضوعية: spinocerebellar ataxia, MRI, volumetry, biomarker

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10127764/1/mds.28610.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10127764Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10127764/1/mds.28610.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10127764Test/

المؤلفون: Neuray, C, Sultan, T, Alvi, JR, Franca, MC, Assmann, B, Wagner, M, Canafoglia, L, Franceschetti, S, Rossi, G, Santana, I, Macario, MC, Almeida, MR, Kamate, M, Parikh, S, Elloumi, HZ, Murphy, D, Efthymiou, S, Maroofian, R, Houlden, H

المصدر: Brain , 144 (2) , Article e22. (2021)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10124256/5/Houlden_Early-onset%20phenotype%20of%20bi-allelic%20GRN%20mutations.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10124256/10/Houlden_GRN%20table%201_submission.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10124256Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10124256/5/Houlden_Early-onset%20phenotype%20of%20bi-allelic%20GRN%20mutations.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10124256/10/Houlden_GRN%20table%201_submission.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10124256Test/

المؤلفون: Akçimen, F, Martins, S, Liao, C, Bourassa, CV, Catoire, H, Nicholson, GA, Riess, O, Raposo, M, França, MC, Vasconcelos, J, Lima, M, Lopes-Cendes, I, Saraiva-Pereira, ML, Jardim, LB, Sequeiros, J, Dion, PA, Rouleau, GA

المساهمون: Instituto de Investigação e Inovação em Saúde

مصطلحات موضوعية: Adult, Age of Onset, Ataxin-3 / genetics, Female, Genome-Wide Association Study, Humans, Machado-Joseph Disease / epidemiology, Machado-Joseph Disease / genetics, Male, Polymorphism, Single Nucleotide, Repressor Proteins / genetics

وصف الملف: application/pdf

العلاقة: Aging, vol.12(6), p. 4742-4756; https://www.aging-us.com/article/102825/textTest; https://hdl.handle.net/10216/142510Test

الإتاحة: https://doi.org/10.18632/aging.102825Test
https://hdl.handle.net/10216/142510Test

المؤلفون: Rezende Filho, FM, Bremner, F, Pedroso, JL, de Andrade, JBC, Marianelli, BF, Lourenco, CM, Marques-Junior, W, Franca, MC, Kok, F, Sallum, JMF, Parkinson, MH, Barsottini, OG, Giunti, P

المصدر: Movement Disorders (2021) (In press).

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences & Neurology, optical coherence tomography, autosomal recessive spastic ataxia of Charlevoix‐, Saguenay, ARSACS, retina, ataxia

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10128090Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10128090Test/

المؤلفون: França, MC, Costa, ALC, Maciel, JA

المصدر: Cephalalgia ; volume 24, issue 11, page 993-996 ; ISSN 0333-1024 1468-2982

مصطلحات موضوعية: Neurology (clinical), General Medicine

الإتاحة: https://doi.org/10.1111/j.1468-2982.2004.00791.xTest