المؤلفون: Towns, C., Fang, Z.-H., Tan, M.M.X., Jasaityte, S., Schmaderer, T.M., Stafford, E.J., Pollard, M., Tilney, R., Hodgson, M., Wu, L., Labrum, R., Hehir, J., Polke, J., Lange, L.M., Schapira, A.H.V., Bhatia, K.P., Morris, H.R., Real, R., Jarman, P.R., Wood, N.W., Wakeman, E., Saifee, T., Arianayagam, S., Shaik, S., Molloy, S., Gregory, R., Wickremaratchi, M., Buccoliero, R., Bandmann, O., Paviour, D., Padiachy, D., Misbahuddin, A., Cosgrove, J., Guptha, S., Chaudhuri, R., Tai, Y., Asad, S., Funaki, A., Kunc, M., Brierley, C., Sheridan, R., Truscott, R., Dean, S., Vickers, C., Sophia, R., Jones, S., Capps, E., Archibald, N., Wiblin, L., Slaght, S.J., Jones, E., Barnes, C., D’Costa, D., Mann, C., Nath, U., Schrag, A., Williams, S., Webster, G., Sveinbjornsdottir, S., Strens, L., Hand, A., Walker, R., Crouch, R., Raw, J., Tuck, S., Amar, K., Wales, E., Gentilini, I., Nacorda, A., Hartley, L., Singleton, A.B., Blauwendraat, C., Klein, C., Houlden, H.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/219546/1/s41531-024-00778-z.pdf; Towns, C. orcid.org/0000-0001-8418-6241 , Fang, Z.-H. orcid.org/0000-0002-0225-8772 , Tan, M.M.X. orcid.org/0000-0001-5835-669X et al. (79 more authors) (2024) Parkinson’s families project: a UK-wide study of early onset and familial Parkinson’s disease. npj Parkinson's Disease, 10. 188. ISSN 2373-8057

الاتاحة: https://eprints.whiterose.ac.uk/219546/
https://doi.org/10.1038/s41531-024-00778-z

المؤلفون: Macken, WL, Falabella, M, Pizzamiglio, C, Woodward, CE, Scotchman, E, Chitty, LS, Polke, JM, Bugiardini, E, Hanna, MG, Vandrovcova, J, Chandler, N, Labrum, R, Pitceathly, RDS

المصدر: Expert Review of Molecular Diagnostics , 23 (9) pp. 797-814. (2023)

مصطلحات موضوعية: Bioinformatics, large-scale rearrangements, long-read sequencing, mitochondrial DNA, primary mitochondrial diseases

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10176202/1/Falabella_Enhanced%20mitochondrial%20genome%20analysis_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10176202/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10176202/1/Falabella_Enhanced%20mitochondrial%20genome%20analysis_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10176202/

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: Mavraki E, Labrum R, Sergeant K, Alston CL, Woodward C, Smith C, Knowles CVY, Patel Y, Hodsdon P, Baines JP, Blakely EL, Polke J, Taylor RW, Fratter C

المصدر: European Journal of Human Genetics, 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/288431; https://eprints.ncl.ac.uk/fulltext.aspx?url=288431/F48819B6-E7E8-488E-99EE-22710E442E1D.pdf&pub_id=288431

الاتاحة: https://eprints.ncl.ac.uk/288431

المؤلفون: Brown, AF, Parkinson, MH, Garcia-Moreno, H, Mudanohwo, E, Labrum, R, Sweeney, M, Giunti, P

المصدر: Frontiers in Neurology , 12 , Article 736253. (2021)

مصطلحات موضوعية: Friedreich’s ataxia, molecular diagnostics, GAA expansion, triplet-primed PCR, long range PCR

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10141406/1/fneur-12-736253.pdf; https://discovery.ucl.ac.uk/id/eprint/10141406/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10141406/1/fneur-12-736253.pdf
https://discovery.ucl.ac.uk/id/eprint/10141406/

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

Relation: https://discovery.ucl.ac.uk/id/eprint/10132292/1/ijms-22-07507-v2.pdf; https://discovery.ucl.ac.uk/id/eprint/10132292/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10132292/1/ijms-22-07507-v2.pdf
https://discovery.ucl.ac.uk/id/eprint/10132292/

المؤلفون: Poole, OV, Pizzamiglio, C, Murphy, D, Falabella, M, Macken, WL, Bugiardini, E, Woodward, CE, Labrum, R, Efthymiou, S, Salpietro, V, Chelban, V, Kaiyrzhanov, R, Maroofian, R, SYNaPS Study Group, ., Amato, AA, Gregory, A, Hayflick, SJ, Genomics, QS, Jonvik, H, Wood, N, Houlden, H, Vandrovcova, J, Hanna, MG, Pittman, A, Pitceathly, RDS

المصدر: Annals of Neurology (2021) (In press).

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10124258/7/Pizzamiglio_Mitochondrial%20DNA%20analysis%20from%20exome%20sequencing%20data%20improves%20the%20diagnostic%20yield%20in%20neurological%20diseases_AOP.pdf; https://discovery.ucl.ac.uk/id/eprint/10124258/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10124258/7/Pizzamiglio_Mitochondrial%20DNA%20analysis%20from%20exome%20sequencing%20data%20improves%20the%20diagnostic%20yield%20in%20neurological%20diseases_AOP.pdf
https://discovery.ucl.ac.uk/id/eprint/10124258/

المؤلفون: Poole, OV, Pizzamiglio, C, Murphy, D, Falabella, M, Macken, WL, Bugiardini, E, Woodward, CE, Labrum, R, Efthymiou, S, Salpietro, V, Chelban, V, Kaiyrzhanov, R, Maroofian, R, SYNaPS Study Group, Amato, AA, Gregory, A, Hayflick, SJ, Queen Square Genomics, Jonvik, H, Wood, N, Houlden, H, Vandrovcova, J, Hanna, MG, Pittman, A, Pitceathly, RDS

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/113089/6/ana.26063.pdf; https://openaccess.sgul.ac.uk/id/eprint/113089/1/ana.26063.pdf; Poole, OV; Pizzamiglio, C; Murphy, D; Falabella, M; Macken, WL; Bugiardini, E; Woodward, CE; Labrum, R; Efthymiou, S; Salpietro, V; et al. Poole, OV; Pizzamiglio, C; Murphy, D; Falabella, M; Macken, WL; Bugiardini, E; Woodward, CE; Labrum, R; Efthymiou, S; Salpietro, V; Chelban, V; Kaiyrzhanov, R; Maroofian, R; SYNaPS Study Group; Amato, AA; Gregory, A; Hayflick, SJ; Queen Square Genomics; Jonvik, H; Wood, N; Houlden, H; Vandrovcova, J; Hanna, MG; Pittman, A; Pitceathly, RDS (2021) Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases. Ann Neurol, 89 (6). pp. 1240-1247. ISSN 1531-8249 https://doi.org/10.1002/ana.26063 SGUL Authors: Maroofian, Reza Pittman, Alan Michael

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/113089/
https://openaccess.sgul.ac.uk/id/eprint/113089/6/ana.26063.pdf
https://openaccess.sgul.ac.uk/id/eprint/113089/1/ana.26063.pdf

المؤلفون: Prudencio, M, Garcia-Moreno, H, Jansen-West, KR, Al-Shaikh, RH, Gendron, TF, Heckman, MG, Spiegel, MR, Carlomagno, Y, Daughrity, LM, Song, Y, Dunmore, JA, Byron, N, Oskarsson, B, Nicholson, KA, Staff, NP, Gorcenco, S, Puschmann, A, Lemos, J, Januário, C, LeDoux, MS, Friedman, JH, Polke, J, Labrum, R, Shakkottai, V, McLoughlin, HS, Paulson, HL, Konno, T, Onodera, O, Ikeuchi, T, Tada, M, Kakita, A, Fryer, JD, Karremo, C, Gomes, I, Caviness, JN, Pittelkow, MR, Aasly, J, Pfeiffer, RF, Veerappan, V, Eggenberger, ER, Freeman, WD, Huang, JF, Uitti, RJ, Wierenga, KJ, Marin Collazo, IV, Tipton, PW, van Gerpen, JA, van Blitterswijk, M, Bu, G, Wszolek, ZK, Giunti, P, Petrucelli, L

المصدر: Science Translational Medicine , 12 (566) , Article eabb7086. (2020)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10113896/1/abb7086_CombinedPDF_v3.pdf; https://discovery.ucl.ac.uk/id/eprint/10113896/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10113896/1/abb7086_CombinedPDF_v3.pdf
https://discovery.ucl.ac.uk/id/eprint/10113896/

المؤلفون: Yau, WY, Raposo, M, Bettencourt, C, Labrum, R, Vasconcelos, J, Parkinson, MH, Giunti, P, Wood, NW, Lima, M, Houlden, H

المصدر: Brain , 143 (4) e25. (2020)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10094728/1/MSH3,%20Yau%20WY%20et%20al.pdf; https://discovery.ucl.ac.uk/id/eprint/10094728/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10094728/1/MSH3,%20Yau%20WY%20et%20al.pdf
https://discovery.ucl.ac.uk/id/eprint/10094728/

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

Relation: https://discovery.ucl.ac.uk/id/eprint/10092217/1/Abeti__Article_NfLAndPNfHAreIncreasedInFriedr.pdf; https://discovery.ucl.ac.uk/id/eprint/10092217/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10092217/1/Abeti__Article_NfLAndPNfHAreIncreasedInFriedr.pdf
https://discovery.ucl.ac.uk/id/eprint/10092217/

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: 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

Relation: https://discovery.ucl.ac.uk/id/eprint/10063831/1/Nethisinghe_fncel-12-00429.pdf; https://discovery.ucl.ac.uk/id/eprint/10063831/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10063831/1/Nethisinghe_fncel-12-00429.pdf
https://discovery.ucl.ac.uk/id/eprint/10063831/

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

Relation: https://discovery.ucl.ac.uk/id/eprint/10054823/4/fncel-12-00200.pdf; https://discovery.ucl.ac.uk/id/eprint/10054823/3/Figures.zip; https://discovery.ucl.ac.uk/id/eprint/10054823/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10054823/4/fncel-12-00200.pdf
https://discovery.ucl.ac.uk/id/eprint/10054823/3/Figures.zip
https://discovery.ucl.ac.uk/id/eprint/10054823/

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: Reetz, K, Dogan, I, Hilgers, R, Giunti, P, Parkinson, M, Mariotti, C, Nanetti, L, Durr, A, Ewenczyk, C, Boesch, S, Nachbauer, W, Klopstock, T, Stendel, C, Rodriguez de Rivera Garrido, F, Rummey, C, Schols, L, Hayer, S, Klockgether, T, Giordano, I, Didszun, C, Rai, M, Pandolfo, M, Schulz, J, Labrum, R, Thomas-Black, G, Manso, K, Solanky, N, Gellera, C, Mongelli, A, Castaldo, A, Fichera, M, Palau, F, O'Callaghan, M, Biet, M, Monin, M, Eigentler, A, Indelicato, E, Amprosi, M, Radelfahr, F, Bischoff, A, Holtbernd, F, Brcina, N, Hohenfeld, C, Koutsis, G, Breza, M, Bertini, E, Vasco, G, Reetz K., Dogan I., Hilgers R. -D., Giunti P., Parkinson M. H., Mariotti C., Nanetti L., Durr A., Ewenczyk C., Boesch S., Nachbauer W., Klopstock T., Stendel C., Rodriguez de Rivera Garrido F. J., Rummey C., Schols L., Hayer S. N., Klockgether T., Giordano I., Didszun C., Rai M., Pandolfo M., Schulz J. B., Labrum R., Thomas-Black G., Manso K., Solanky N., Gellera C., Mongelli A., Castaldo A., Fichera M., Palau F., O'Callaghan M., Biet M., Monin M. L., Eigentler A., Indelicato E., Amprosi M., Radelfahr F., Bischoff A. T., Holtbernd F., Brcina N., Hohenfeld C., Koutsis G., Breza M., Bertini E., Vasco G.

مصطلحات الفهرس: Adult, Cohort Studie, Europe, Female, Friedreich Ataxia, Human, Male, Middle Aged, Mobility Limitation, Registrie, Time Factor, Young Adult, Activities of Daily Living, Disease Progression, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/324955
info:eu-repo/semantics/altIdentifier/pmid/33770527
info:eu-repo/semantics/altIdentifier/wos/WOS:000717465200018
volume:20
issue:5
firstpage:362
lastpage:372
numberofpages:11
journal:LANCET NEUROLOGY

المؤلفون: Reetz K., Dogan I., Hilgers R. -D., Giunti P., Parkinson M. H., Mariotti C., Nanetti L., Durr A., Ewenczyk C., Boesch S., Nachbauer W., Klopstock T., Stendel C., Rodriguez de Rivera Garrido F. J., Rummey C., Schols L., Hayer S. N., Klockgether T., Giordano I., Didszun C., Rai M., Pandolfo M., Schulz J. B., Labrum R., Thomas-Black G., Manso K., Solanky N., Gellera C., Mongelli A., Castaldo A., Fichera M., Palau F., O'Callaghan M., Biet M., Monin M. L., Eigentler A., Indelicato E., Amprosi M., Radelfahr F., Bischoff A. T., Holtbernd F., Brcina N., Hohenfeld C., Koutsis G., Breza M., Bertini E., Vasco G.

المساهمون: Reetz, K, Dogan, I, Hilgers, R, Giunti, P, Parkinson, M, Mariotti, C, Nanetti, L, Durr, A, Ewenczyk, C, Boesch, S, Nachbauer, W, Klopstock, T, Stendel, C, Rodriguez de Rivera Garrido, F, Rummey, C, Schols, L, Hayer, S, Klockgether, T, Giordano, I, Didszun, C, Rai, M, Pandolfo, M, Schulz, J, Labrum, R, Thomas-Black, G, Manso, K, Solanky, N, Gellera, C, Mongelli, A, Castaldo, A, Fichera, M, Palau, F, O'Callaghan, M, Biet, M, Monin, M, Eigentler, A, Indelicato, E, Amprosi, M, Radelfahr, F, Bischoff, A, Holtbernd, F, Brcina, N, Hohenfeld, C, Koutsis, G, Breza, M, Bertini, E, Vasco, G

مصطلحات موضوعية: Adult, Cohort Studie, Europe, Female, Friedreich Ataxia, Human, Male, Middle Aged, Mobility Limitation, Registrie, Time Factor, Young Adult, Activities of Daily Living, Disease Progression

Relation: info:eu-repo/semantics/altIdentifier/pmid/33770527; info:eu-repo/semantics/altIdentifier/wos/WOS:000717465200018; volume:20; issue:5; firstpage:362; lastpage:372; numberofpages:11; journal:LANCET NEUROLOGY; http://hdl.handle.net/10281/324955; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103961796

الاتاحة: http://hdl.handle.net/10281/324955
https://doi.org/10.1016/S1474-4422(21)00027-2

المؤلفون: Gardiner, AR, Jaffer, F, Dale, RC, Labrum, R, Erro, R, Meyer, E, Xiromerisiou, G, Stamelou, M, Walker, M, Kullmann, D, Warner, T, Jarman, P, Hanna, M, Kurian, MA, Bhatia, KP, Houlden, H

المصدر: Brain , 138 (Pt 12) pp. 3567-3580. (2015)

مصطلحات موضوعية: PNKD, PRRT2, SLC2A1, gene, paroxysmal movement disorder

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1474342/1/The%20clinical%20and%20genetic%20heterogeneity%20of%20paroxysmal%20dyskinesias.pdf; https://discovery.ucl.ac.uk/id/eprint/1474342/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1474342/1/The%20clinical%20and%20genetic%20heterogeneity%20of%20paroxysmal%20dyskinesias.pdf
https://discovery.ucl.ac.uk/id/eprint/1474342/

المؤلفون: Kasperaviciute, D, Smith, KR, Ibanez, K, Pasko, D, Bleda, M, Walker, S, Polychronopoulos, D, Martin, AR, Kayikci, M, Lopez, J, Thomas, E, Baple, E, Tucci, A, Scott, RH, Polke, J, Labrum, R, Santos, L, Eggleton, K, Mcmullan, D, Morrogh, D, Ahn, JW, Deans, Z, Hill, S, Caulfield, MJ, Rendon, A, Consortium, GER

وصف الملف: 640 - 641

Relation: https://qmro.qmul.ac.uk/xmlui/handle/123456789/70844

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/70844

المؤلفون: Proukakis, C, Moore, D, Labrum, R, Wood, N W, Houlden, H

مصطلحات موضوعية: ABN abstracts

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/83/3/e1-dk; http://dx.doi.org/10.1136/jnnp-2011-301993.115

الاتاحة: http://jnnp.bmj.com/cgi/content/short/83/3/e1-dk
https://doi.org/10.1136/jnnp-2011-301993.115