المؤلفون: Jurkute, N, Shanmugarajah, PD, Hadjivassiliou, M, Higgs, J, Vojcic, M, Horrocks, I, Nadjar, Y, Touitou, V, Lenaers, G, Poh, R, Acheson, J, Robson, AG, Raymond, FL, Reilly, MM, Yu-Wai-Man, P, Moore, AT, Webster, AR, Arno, G, Genomics England Research Consortium, .

المصدر: Investigative Ophthalmology & Visual Science , 62 (6) , Article 2. (2021)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10129122/1/i1552-5783-62-6-2_1619781296.53172.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10129122Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10129122/1/i1552-5783-62-6-2_1619781296.53172.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10129122Test/

المؤلفون: Cortese, A, Wilcox, JE, Polke, JM, Poh, R, Skorupinska, M, Rossor, AM, Laura, M, Tomaselli, PJ, Houlden, H, Shy, ME, Reilly, MM

المصدر: Neurology (2019) (In press).

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10088139/1/Cortese_Targeted%20next-generation%20sequencing%20panels%20in%20the%20diagnosis%20of%20Charcot-Marie-Tooth%20disease_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10088139Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10088139/1/Cortese_Targeted%20next-generation%20sequencing%20panels%20in%20the%20diagnosis%20of%20Charcot-Marie-Tooth%20disease_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10088139Test/

المؤلفون: Rezende Filho, FM, Parkinson, MH, Pedroso, JL, Poh, R, Faber, I, Lourenço, CM, Júnior, WM, França Junior, MC, Kok, F, Sallum, JMF, Giunti, P, Barsottini, OGP

المصدر: Parkinsonism & Related Disorders , 62 pp. 148-155. (2019)

مصطلحات موضوعية: Optical coherence tomography, MRI, Autosomal recessive ataxia of Charlevoix-Saguenay, Retina, Ataxia

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10067041/1/Giunti_Clinical,%20ophthalmological,%20imaging%20and%20genetic%20features%20in%20Brazilian%20patients%20with%20ARSACS_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10067041Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10067041/1/Giunti_Clinical,%20ophthalmological,%20imaging%20and%20genetic%20features%20in%20Brazilian%20patients%20with%20ARSACS_AAM.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10067041Test/

المؤلفون: Pipis M., Cortese A., Polke J. M., Poh R., Vandrovcova J., Laura M., Skorupinska M., Jacquier A., Juntas-Morales R., Latour P., Petiot P., Sole G., Fromes Y., Shah S., Blake J., Choi B. -O., Chung K. W., Stojkovic T., Rossor A. M., Reilly M. M.

المساهمون: Pipis, M., Cortese, A., Polke, J. M., Poh, R., Vandrovcova, J., Laura, M., Skorupinska, M., Jacquier, A., Juntas-Morales, R., Latour, P., Petiot, P., Sole, G., Fromes, Y., Shah, S., Blake, J., Choi, B. -O., Chung, K. W., Stojkovic, T., Rossor, A. M., Reilly, M. M.

مصطلحات موضوعية: HMSN (Charcot-Marie-Tooth), neurogenetic, neuromuscular, neuropathy, Adult, Charcot-Marie-Tooth Disease, Exon, Female, Genotype, Heterozygote, Human, Intermediate Filament, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Neurofilament Protein, Neuron, Pedigree, Phenotype, Sural Nerve, Young Adult

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34518334; info:eu-repo/semantics/altIdentifier/wos/WOS:000725045300001; volume:93; issue:1; firstpage:48; lastpage:56; numberofpages:9; journal:JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY; http://hdl.handle.net/11571/1450133Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122772584; https://jnnp.bmj.com/content/93/1/48Test

الإتاحة: https://doi.org/10.1136/jnnp-2021-327186Test
http://hdl.handle.net/11571/1450133Test
https://jnnp.bmj.com/content/93/1/48Test

المؤلفون: Horga, A, Laurà, M, Jaunmuktane, Z, Jerath, NU, Gonzalez, MA, Polke, JM, Poh, R, Blake, JC, Liu, Y-T, Wiethoff, S, Bettencourt, C, Lunn, MP, Manji, H, Hanna, MG, Houlden, H, Brandner, S, Züchner, S, Shy, M, Reilly, MM

المصدر: Journal of Neurology, Neurosurgery and Psychiatry , 88 (7) pp. 575-585. (2017)

مصطلحات موضوعية: NEFL, charcot-Marie-Tooth disease, neurofilament light polypeptide, whole-exome sequencing

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1556901/1/Brandner_A_Manuscript.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1556901Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1556901/1/Brandner_A_Manuscript.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1556901Test/

المؤلفون: Tomaselli, PJ, Rossor, AM, Polke, JM, Poh, R, Blake, J, Reilly, MM

المصدر: Journal of the Peripheral Nervous System , 21 (1) pp. 52-54. (2016)

مصطلحات موضوعية: Charcot-Marie-Tooth disease, Mitofusin 2, dominant, recessive, semi-dominant

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1479602/1/Rossor_Main%20manuscript%2005122015.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1479602Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1479602/1/Rossor_Main%20manuscript%2005122015.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1479602Test/

المؤلفون: Cortese A., Wilcox J. E., Polke J. M., Poh R., Skorupinska M., Rossor A. M., Laura M., Tomaselli P. J., Houlden H., Shy M. E., Reilly M. M.

المساهمون: Cortese, A., Wilcox, J. E., Polke, J. M., Poh, R., Skorupinska, M., Rossor, A. M., Laura, M., Tomaselli, P. J., Houlden, H., Shy, M. E., Reilly, M. M.

مصطلحات موضوعية: Adult, Age of Onset, Aged, Charcot-Marie-Tooth Disease, Cohort Studie, Consanguinity, Demyelinating Disease, Family, Female, Gene Dosage, Gene Duplication, High-Throughput Nucleotide Sequencing, Human, Male, Middle Aged, Mutation, Prospective Studie, Risk Factors

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31827005; info:eu-repo/semantics/altIdentifier/wos/WOS:000582378000020; volume:94; issue:1; firstpage:e51; lastpage:e61; numberofpages:10; journal:NEUROLOGY; http://hdl.handle.net/11571/1350554Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85077401475; https://n.neurology.org/content/94/1/e51.longTest

الإتاحة: https://doi.org/10.1212/WNL.0000000000008672Test
http://hdl.handle.net/11571/1350554Test
https://n.neurology.org/content/94/1/e51.longTest

المؤلفون: Levis, HJ, Peh, GS, Toh, KP, Poh, R, Shortt, AJ, Drake, RA, Mehta, JS, Daniels, JT

المصدر: PLoS One , 7 (11) , Article e50993. (2012)

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1380643/1/1380643.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1380643Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1380643/1/1380643.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1380643Test/

المؤلفون: Levis H.J., Peh G.S.L., Toh K.-P., Poh R., Shortt A.J., Drake R.A.L., Mehta J.S., Daniels J.T.

المساهمون: DEAN'S OFFICE (DUKE-NUS MEDICAL SCHOOL), DUKE-NUS MEDICAL SCHOOL

المصدر: Unpaywall 20191101

مصطلحات موضوعية: adenosine triphosphatase (potassium sodium), biomaterial, collagen, plastic compressed collagen, protein ZO1, unclassified drug, article, cell transfer, clinical protocol, cornea transplantation, Descemet stripping endothelial keratoplasty, endothelium cell, human, human cell, human tissue, immunohistochemistry, in vitro study, microvillus, morphology, organ donor, recipient, tight junction, Adolescent, Animals, Biological Markers, Cell Line, Cell Proliferation, Cell Shape, Cells, Cultured

العلاقة: Levis H.J., Peh G.S.L., Toh K.-P., Poh R., Shortt A.J., Drake R.A.L., Mehta J.S., Daniels J.T. (2012). Plastic Compressed Collagen as a Novel Carrier for Expanded Human Corneal Endothelial Cells for Transplantation. PLoS ONE 7 (11) : e50993. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0050993Test; https://scholarbank.nus.edu.sg/handle/10635/161701Test

الإتاحة: https://doi.org/10.1371/journal.pone.0050993Test
https://scholarbank.nus.edu.sg/handle/10635/161701Test

المؤلفون: Nurulhuda, I., Poh, R., Mazatulikhma, M. Z., Salman, A. H. A., Haseeb, A. K., Rusop, M.

المصدر: AIP Conference Proceedings ; ISSN 0094-243X

الإتاحة: https://doi.org/10.1063/1.4948876Test