المؤلفون: Scarabino D, Veneziano L, Fiore A, Nethisinghe S, Montuano E, Garcia-Moreno H, Bellucci G, Solanky N, MORELLO M, Ginevra Z, Corbo RM, Giunti P

المساهمون: Scarabino, D, Veneziano, L, Fiore, A, Nethisinghe, S, Montuano, E, Garcia-Moreno, H, Bellucci, G, Solanky, N, Morello, M, Ginevra, Z, Corbo, R, Giunti, P

مصطلحات موضوعية: Settore BIO/05 - ZOOLOGIA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000846350400001; journal:ANTIOXIDANTS; https://hdl.handle.net/2108/313687Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85137356474

الإتاحة: https://hdl.handle.net/2108/313687Test

المؤلفون: Scarabino D., Veneziano L., Fiore A., Nethisinghe S., Mantuano E., Garcia-Moreno H., Bellucci G., Solanky N., Morello M., Zanni G., Corbo R. M., Giunti P.

المساهمون: Scarabino, D., Veneziano, L., Fiore, A., Nethisinghe, S., Mantuano, E., Garcia-Moreno, H., Bellucci, G., Solanky, N., Morello, M., Zanni, G., Corbo, R. M., Giunti, P.

مصطلحات موضوعية: biomarker, leukocyte telomere length, neurodegenerative disease, spinocerebellar ataxias

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35892638; info:eu-repo/semantics/altIdentifier/wos/WOS:000846350400001; volume:11; issue:8; numberofpages:16; journal:ANTIOXIDANTS; https://hdl.handle.net/11573/1672546Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85137356474

الإتاحة: https://doi.org/10.3390/antiox11081436Test
https://hdl.handle.net/11573/1672546Test

المؤلفون: Kadirvelu, B, Gavriel, C, Nageshwaran, S, Chan, JPK, Nethisinghe, S, Athanasopoulos, S, Ricotti, V, Voit, T, Giunti, P, Festenstein, R, Faisal, AA

المصدر: 94 ; 86

جغرافية الموضوع: United States

العلاقة: 10044/1/102034; http://hdl.handle.net/10044/1/102034Test; Nature Medicine; http://hdl.handle.net/10044/1/99760Test

الإتاحة: https://doi.org/10.1038/s41591-022-02159-6Test
http://hdl.handle.net/10044/1/99760Test

المؤلفون: Nethisinghe, S, Abeti, R, Kesavan, M, Wigley, WC, Giunti, P

المصدر: International Journal of Molecular Sciences , 22 (21) , Article 11722. (2021)

مصطلحات موضوعية: ARSACS, ataxia, vimentin, KU-32, Hsp90 inhibition

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10137915/1/ijms-22-11722.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10137915Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10137915/1/ijms-22-11722.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10137915Test/

المؤلفون: Nethisinghe, S, Kesavan, M, Ging, H, Labrum, R, Polke, JM, Islam, S, Garcia-Moreno, H, Callaghan, MF, Cavalcanti, F, Pook, MA, Giunti, P

المصدر: International Journal of Molecular Sciences , 22 (14) , Article 7507. (2021)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Physical Sciences, Biochemistry & Molecular Biology, Chemistry, Multidisciplinary, Friedreich's ataxia, FRDA, ataxia, GAA repeat interruption, triplet repeat primed PCR, TP PCR, frataxin, FXN, TRIPLET-REPEAT, TRINUCLEOTIDE REPEAT, DIABETES-MELLITUS, SPINOCEREBELLAR, EXPANSION, GENE

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10132292/1/ijms-22-07507-v2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10132292Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10132292/1/ijms-22-07507-v2.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10132292Test/

المؤلفون: Coutelier M., Hammer M. B., Stevanin G., Monin M. -L., Davoine C. -S., Mochel F., Labauge P., Ewenczyk C., Ding J., Gibbs J. R., Hannequin D., Melki J., Toutain A., Laugel V., Forlani S., Charles P., Broussolle E., Thobois S., Afenjar A., Anheim M., Calvas P., Castelnovo G., De Broucker T., Vidailhet M., Moulignier A., Ghnassia R. T., Tallaksen C., Mignot C., Goizet C., Le Ber I., Ollagnon-Roman E., Pouget J., Brice A., Singleton A., Durr A., Belarabi S., Hamri A., Tazir M., Boesch S., Pandolfo M., Ullmann U., Jardim L., Guergueltcheva V., Tournev I., Soong B. -W., Linares O. L. P., Nielsen J. E., Svenstrup K., Zaki M., Azulay J. -P., Banneau G., Boesfplug-Tanguy O., Burgo A., Cazeneuve C., Darios F., Depienne C., Duyckaerts C., Fontaine B., Hazan J., Koenig M., Marelli C., N'guyen K., Rodriguez D., Sittler A., Verny C., Bauer P., Schols L., Schule R., Koutsis G., Lossos A., Antenora A., Bassi M. T., Basso M., Bertini E., Brusco A., Casali C., Casari G., Criscuolo C., Filla A., Lieto M., Orsi L., Santorelli F. M., Valente E. M., Vavla M., Vazza G., Megarbane A., Benomar A., Roxburgh R., Erichsen A. K., Alonso I., Coutinho P., Loureiro J. L., Sequeiros J., Salih M., Kostic V. S., Axpe I. R., Roumani S., Kremer B., Van Roon-Mom W., Boukhris A., Mhiri C., Karabay A., Nethisinghe S., Okane C., Oliva M., Reid E., Warner T., Wood N.

المساهمون: Coutelier M., Hammer M.B., Stevanin G., Monin M.-L., Davoine C.-S., Mochel F., Labauge P., Ewenczyk C., Ding J., Gibbs J.R., Hannequin D., Melki J., Toutain A., Laugel V., Forlani S., Charles P., Broussolle E., Thobois S., Afenjar A., Anheim M., Calvas P., Castelnovo G., De Broucker T., Vidailhet M., Moulignier A., Ghnassia R.T., Tallaksen C., Mignot C., Goizet C., Le Ber I., Ollagnon-Roman E., Pouget J., Brice A., Singleton A., Durr A., Belarabi S., Hamri A., Tazir M., Boesch S., Pandolfo M., Ullmann U., Jardim L., Guergueltcheva V., Tournev I., Soong B.-W., Linares O.L.P., Nielsen J.E., Svenstrup K., Zaki M., Azulay J.-P., Banneau G., Boesfplug-Tanguy O., Burgo A., Cazeneuve C., Darios F., Depienne C., Duyckaerts C., Fontaine B., Hazan J., Koenig M., Marelli C., N'guyen K., Rodriguez D., Sittler A., Verny C., Bauer P., Schols L., Schule R., Koutsis G., Lossos A., Antenora A., Bassi M.T., Basso M., Bertini E., Brusco A., Casali C., Casari G., Criscuolo C., Filla A., Lieto M., Orsi L., Santorelli F.M., Valente E.M., Vavla M., Vazza G., Megarbane A., Benomar A., Roxburgh R., Erichsen A.K., Alonso I., Coutinho P., Loureiro J.L., Sequeiros J., Salih M., Kostic V.S., Axpe I.R., Roumani S., Kremer B., Van Roon-Mom W., Boukhris A.

مصطلحات موضوعية: ataxia, exome sequencing, disease genes, spastic ataxia, oculomotor apraxia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29482223; info:eu-repo/semantics/altIdentifier/wos/WOS:000432316000013; volume:75; issue:5; firstpage:591; lastpage:599; numberofpages:9; journal:JAMA NEUROLOGY; http://hdl.handle.net/2318/1705717Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85047087037; https://jamanetwork.com/journals/jamaneurology/currentissueTest

الإتاحة: https://doi.org/10.1001/jamaneurol.2017.5121Test
http://hdl.handle.net/2318/1705717Test
https://jamanetwork.com/journals/jamaneurology/currentissueTest

المؤلفون: Nethisinghe, S, Lim, WN, Ging, H, Zeitlberger, A, Abeti, R, Pemble, S, Sweeney, MG, Labrum, R, Cervera, C, Houlden, H, Rosser, E, Limousin, P, Kennedy, A, Lunn, MP, Bhatia, KP, Wood, NW, Hardy, J, Polke, JM, Veneziano, L, Brusco, A, Davis, MB, Giunti, P

المصدر: Frontiers in Cellular Neuroscience , 12 , Article 429. (2018)

مصطلحات موضوعية: PolyQ, ataxia, CAG repeat expansions, SCA17, neurodegeneration, genetic counseling

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10063831/1/Nethisinghe_fncel-12-00429.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10063831Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10063831/1/Nethisinghe_fncel-12-00429.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10063831Test/

المؤلفون: Nethisinghe, S, Pigazzini, ML, Pemble, S, Sweeney, MG, Labrum, R, Manso, K, Moore, D, Warner, J, Davis, MB, Giunti, P

المصدر: Frontiers in Cellular Neuroscience , 12 , Article 200. (2018)

مصطلحات موضوعية: PolyQ, ataxia, CAG repeat, SCA1, neurodegeneration, genetic counseling

وصف الملف: text; archive

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10054823/4/fncel-12-00200.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10054823/3/Figures.zipTest; https://discovery.ucl.ac.uk/id/eprint/10054823Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10054823/4/fncel-12-00200.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10054823/3/Figures.zipTest
https://discovery.ucl.ac.uk/id/eprint/10054823Test/

المؤلفون: Zeitlberger, A, Ging, H, Nethisinghe, S, Giunti, P

المصدر: Expert Opinion on Orphan Drugs , 6 (3) pp. 203-217. (2018)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Pharmacology & Pharmacy, Anticipation, biomarkers, hereditary ataxia, next-generation sequencing, gene panels, polyglutamine diseases, trinucleotide expansions, MACHADO-JOSEPH-DISEASE, AMYOTROPHIC-LATERAL-SCLEROSIS, CONGENITAL CEREBELLAR-ATAXIA, PLACEBO-CONTROLLED TRIAL, SPINAL MUSCULAR-ATROPHY, MESENCHYMAL STEM-CELLS, DORSAL-ROOT GANGLIA, SPINOCEREBELLAR ATAXIA, FRIEDREICH ATAXIA, TRINUCLEOTIDE REPEAT

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10048546/1/Zeitlberger%202018.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10048546Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10048546/1/Zeitlberger%202018.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10048546Test/

المؤلفون: Parkinson, MH, Bartmann, AP, Clayton, LMS, Nethisinghe, S, Pfundt, R, Chapple, JP, Reilly, MM, Manji, H, Wood, NJ, Bremner, F, Giunti, P

المصدر: Brain , 141 (4) pp. 989-999. (2018)

مصطلحات موضوعية: autosomal recessive spastic ataxia of Charlevoix-Saguenay, optical coherence tomography, retinal nerve fibre layer, ataxia

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10047041/3/Giunti_OCT%20in%20ARSACS%20-%20Draft%2023%20Post%202nd%20Brain%20Submission.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10047041Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10047041/3/Giunti_OCT%20in%20ARSACS%20-%20Draft%2023%20Post%202nd%20Brain%20Submission.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10047041Test/