المؤلفون: Ellard S, Morgan S, Wynn SL, Walker S, Parrish A, Mein R, Juett A, Ahn JW, Berry I, Cassidy E-J, Durkie M, Fish L, Hall R, Howard E, Rankin J, Wright CF, Deans ZC, Scott RH, Hill SL, Baple EL, Taylor RW, Baty D, Berg J, Blair E, Bowdin S, Bownass L, Bradley T, Campbell J, Charlton R, Clouston P, Constantinou P, Cooper N, Delon I, Downes K, Ellis D, Elmslie F, Ghali N, Hagan R, Heggarty S, Higgs J, Hunt D, Jenkins L, McAnulty C, McCann E, McDevitt T, McMullan D, Miedzybrodzka Z, Moore D, Newman W, O'Sullivan D, Parker M, Porteous M, Ramsden S, Rea G, Ruddy D, Ryan G, Sarkar A, Sheridan E, Short J, Thomas E, Thomas S, Varghese V, Vasudevan P, Wakeling E, Williams A, Wright M

المصدر: Journal of Medical Genetics, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/301579; https://eprints.ncl.ac.uk/fulltext.aspx?url=301579/293258B2-88BF-418F-9A6C-4E0F9F01F96E.pdf&pub_id=301579

الاتاحة: https://eprints.ncl.ac.uk/301579

المؤلفون: McVeigh, T. P., Lalloo, F., Monahan, K. J., Latchford, A., Durkie, M., Mein, R., Baple, E. L., Hanson, H.

مصطلحات موضوعية: DNA Repair, Delivery of Health Care, Digestive System Neoplasms, Gastroenterology, Genetic Carrier Screening

Relation: http://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=38816194; McVeigh TP, Lalloo F, Monahan KJ, Latchford A, Durkie M, Mein R, et al. Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations. J Med Genet. 2024.; Journal of medical genetics; https://hdl.handle.net/11287/623308

الاتاحة: https://hdl.handle.net/11287/623308
https://doi.org/10.1136/jmg-2024-109910

المؤلفون: Silwal, A, Sarkozy, A, Scoto, M, Ridout, D, Schmidt, A, Laverty, A, Henriques, M, D'Argenzio, L, Main, M, Mein, R, Manzur, AY, Abel, F, Al-Ghamdi, F, Genetti, CA, Ardicli, D, Haliloglu, G, Topaloglu, H, Beggs, AH, Muntoni, F

المصدر: Annals of Clinical and Translational Neurology , 7 (11) pp. 2288-2296. (2020)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10112267/1/acn3.51218.pdf; https://discovery.ucl.ac.uk/id/eprint/10112267/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10112267/1/acn3.51218.pdf
https://discovery.ucl.ac.uk/id/eprint/10112267/

المؤلفون: Zambon, AA, Ridout, D, Main, M, Mein, R, Phadke, R, Muntoni, F, Sarkozy, A

المصدر: Annals of Clinical and Translational Neurology , 7 (10) pp. 18870-1882. (2020)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10110159/1/Muntoni_acn3.51172.pdf; https://discovery.ucl.ac.uk/id/eprint/10110159/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10110159/1/Muntoni_acn3.51172.pdf
https://discovery.ucl.ac.uk/id/eprint/10110159/

المؤلفون: Zhou, G., Mein, R., Game, D., Rottenberg, G., Bultitude, M, Thomas, K.

المصدر: European Urology Open Science ; volume 19, page e1066 ; ISSN 2666-1683

الاتاحة: http://dx.doi.org/10.1016/s2666-1683(20)33297-3
https://api.elsevier.com/content/article/PII:S2666168320332973?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666168320332973?httpAccept=text/plain

المؤلفون: Matthews, E, Neuwirth, C, Jaffer, F, Scalco, RS, Fialho, D, Parton, M, Rayan, D, Suetterlin, K, Sud, R, Spiegel, R, Mein, R, Houlden, H, Schaefer, A, Healy, E, Palace, J, Quinlivan, R, Treves, S, Holton, JL, Jungbluth, H, Hanna, MG

Relation: https://ora.ox.ac.uk/objects/uuid:20461beb-dabf-48c3-b662-0c38638e5044; https://doi.org/10.1212/WNL.0000000000004894

الاتاحة: https://doi.org/10.1212/WNL.0000000000004894
https://ora.ox.ac.uk/objects/uuid:20461beb-dabf-48c3-b662-0c38638e5044

المؤلفون: Beck, M., Aguti, S., Ala, P., Richard-Loendt, A., Chambers, D., Scaglioni, D., Ardicli, D., Feng, L., Mein, R., Zhou, H., Sewry, C., Sarkozy, A., Torelli, S., Muntoni, F., Phadke, R.

المساهمون: Nöroloji

وصف الملف: application/pdf

Relation: Neuromuscular Disorders; http://dx.doi.org/10.1016/j.nmd.2019.06.549; http://hdl.handle.net/11655/24091; 29

الاتاحة: http://hdl.handle.net/11655/24091
https://doi.org/10.1016/j.nmd.2019.06.549

المؤلفون: Ullmann, U, D’Argenzio, L, Mathur, S, Whyte, T, Quinlivan, R, Longman, C, Farrugia, ME, Manzur, A, Willis, T, Jungbluth, H, Pitt, M, Cirak, S, UK10K consortium, ., Feng, L, Stewart, W, Mein, R, Phadke, R, Sewry, C, Sarkozy, A, Muntoni, F

المصدر: Neuromuscular Disorders , 28 (9) pp. 741-749. (2018)

مصطلحات موضوعية: ECEL1 gene, Distal arthrogryposis, Neuromuscular junction

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10052590/1/Sarkozy_Ullmann%20et%20al.%20for%20NMD%2020.05.18-revision%20final_May%202018.pdf; https://discovery.ucl.ac.uk/id/eprint/10052590/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10052590/1/Sarkozy_Ullmann%20et%20al.%20for%20NMD%2020.05.18-revision%20final_May%202018.pdf
https://discovery.ucl.ac.uk/id/eprint/10052590/

المؤلفون: Matthews, E, Neuwirth, C, Jaffer, F, Scalco, RS, Fialho, D, Parton, M, Raja Rayan, D, Suetterlin, K, Sud, R, Spiegel, R, Mein, R, Houlden, H, Schaefer, A, Healy, E, Palace, J, Quinlivan, R, Treves, S, Holton, JL, Jungbluth, H, Hanna, MG

المصدر: Neurology , 90 (5) e412-e418. (2018)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10041579/7/Fialho%20VoR%20e412.full.pdf; https://discovery.ucl.ac.uk/id/eprint/10041579/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10041579/7/Fialho%20VoR%20e412.full.pdf
https://discovery.ucl.ac.uk/id/eprint/10041579/

المؤلفون: Sarkozy, A, Torelli, S, Mein, R, Henderson, M, Phadke, R, Feng, L, Sewry, CA, Ala, P, Yau, M, Bertoli, M, Willis, T, Hammans, S, Manzur, A, Sframeli, M, Norwood, F, Rakowicz, W, Radunovic, A, Vaidya, SS, Parton, M, Walker, M, Marino, S, Offiah, C, Farrugia, ME, Mamutse, G, Marini-Bettolo, C, Wraige, E, Beeson, D, Lochmüller, H, Straub, V, Bushby, K, Barresi, R, Muntoni, F

المصدر: Journal of Neurology, Neurosurgery and Psychiatry , 89 (7) pp. 762-768. (2018)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10041570/1/Sarkozy%20et%20al%202018.pdf; https://discovery.ucl.ac.uk/id/eprint/10041570/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10041570/1/Sarkozy%20et%20al%202018.pdf
https://discovery.ucl.ac.uk/id/eprint/10041570/

المؤلفون: Marks, S., van Ruitenbeek, E., Fallon, P., Johns, P., Phadke, R., Mein, R., Mohammed, S., Jungbluth, H.

المصدر: Marks , S , van Ruitenbeek , E , Fallon , P , Johns , P , Phadke , R , Mein , R , Mohammed , S & Jungbluth , H 2018 , ' Parental mosaicism in RYR1 -related Central Core Disease ' , Neuromuscular Disorders , vol. 28 , no. 5 , pp. 422-426 . https://doi.org/10.1016/j.nmd.2018.02.011

مصطلحات موضوعية: skeletal muscle ryanodine receptor (RYR1) gene, Central Core Disease (CCD), mosaicism

وصف الملف: application/pdf

Relation: https://kclpure.kcl.ac.uk/portal/en/publications/b47140b8-f7d5-4330-9a6e-27673a8d0547

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/b47140b8-f7d5-4330-9a6e-27673a8d0547
https://doi.org/10.1016/j.nmd.2018.02.011
https://kclpure.kcl.ac.uk/ws/files/87839770/Parental_mosaicism_in_RYR1_related_MARKS_Publishedonline26February2018_GREEN_AAM_CC_BY_NC_ND_.pdf

المؤلفون: Byrne, S, Jansen, L, U-King-Im, J-M, Siddiqui, A, Lidov, HGW, Bodi, I, Smith, L, Mein, R, Cullup, T, Dionisi-Vici, C, Al-Gazali, L, Al-Owain, M, Bruwer, Z, Al Thihli, K, El-Garhy, R, Flanigan, KM, Manickam, K, Zmuda, E, Banks, W, Gershoni-Baruch, R, Mandel, H, Dagan, E, Raas-Rothschild, A, Barash, H, Filloux, F, Creel, D, Harris, M, Hamosh, A, Koelker, S, Ebrahimi-Fakhari, D, Hoffmann, GF, Manchester, D, Boyer, PJ, Manzur, AY, Lourenco, CM, Pilz, DT, Kamath, A, Prabhakar, P, Rao, VK, Rogers, RC, Ryan, MM, Brown, NJ, McLean, CA, Said, E, Schara, U, Stein, A, Sewry, C, Travan, L, Wijburg, FA, Zenker, M, Mohammed, S, Fanto, M, Gautel, M, Jungbluth, H

Relation: pii: awv393; Byrne, S., Jansen, L., U-King-Im, J. -M., Siddiqui, A., Lidov, H. G. W., Bodi, I., Smith, L., Mein, R., Cullup, T., Dionisi-Vici, C., Al-Gazali, L., Al-Owain, M., Bruwer, Z., Al Thihli, K., El-Garhy, R., Flanigan, K. M., Manickam, K., Zmuda, E., Banks, W. ,. Jungbluth, H. (2016). EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. BRAIN, 139 (Pt 3), pp.765-781. https://doi.org/10.1093/brain/awv393.; http://hdl.handle.net/11343/262047

الاتاحة: http://hdl.handle.net/11343/262047

المؤلفون: Perry, L., Phadke, R., Mein, R., Clinch, Y., Robb, S., Munot, P., Feng, L., Sewry, C., Manzur, A., Quinlivan, R., Scoto, M., Baranello, G., Muntoni, F., Sarkozy, A.

المصدر: Neuromuscular Disorders ; volume 31, page S60 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2021.07.060
https://api.elsevier.com/content/article/PII:S0960896621002479?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896621002479?httpAccept=text/plain

المؤلفون: Muntoni, F., Phadke, R., Sewry, C., Zhou, H., Aguti, S., Mein, R., Feng, L., Ala, P., Torelli, S., Sarkozy, A., Ardicli, D.

الاتاحة: https://avesis.hacettepe.edu.tr/publication/details/9649d975-4e12-4967-9df8-c6f5a8ecacdf/oai

المؤلفون: Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., Jimenez-Mallebrera, C., Mercuri, E., Manzur, A. Y., Kinali, M., Torelli, S., Brown, S. C., Sewry, C. A., Bushby, K., Topaloglu, H., North, K., Abbs, S., Muntoni, F.

المصدر: Brain ; volume 130, issue 10, page 2725-2735 ; ISSN 0006-8950 1460-2156

الاتاحة: https://doi.org/10.1093/brain/awm212
http://academic.oup.com/brain/article-pdf/130/10/2725/1073030/awm212.pdf

المؤلفون: Sa, M., Ridout, D., Distefano, M., Fernandez-Garcia, M., Main, M., Mein, R., Phadke, R., Jungbluth, H., Muntoni, F., Sarkozy, A.

المصدر: Neuromuscular Disorders ; volume 30, page S74-S75 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2020.08.100
https://api.elsevier.com/content/article/PII:S0960896620302972?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896620302972?httpAccept=text/plain

المؤلفون: Mitchell, V G, Mein, R G, McMahon, T A

المصدر: Australasian Journal of Water Resources ; volume 6, issue 1, page 31-43 ; ISSN 1324-1583 2204-227X

الاتاحة: http://dx.doi.org/10.1080/13241583.2002.11465208
https://www.tandfonline.com/doi/pdf/10.1080/13241583.2002.11465208

المؤلفون: Muntoni, F., Abel, F., Manzur, A., Sarkozy, A., Mein, R., Main, M., D'Argenzio, L., Henriques, M., Laverty, A., Schmidt, A., Beggs, A., Topaloglu, H., Ardicli, D., Genetti, C., Al-Ghamdi, F., Ridout, D., Scoto, M., Haliloglu, G., Silwal, A.

الاتاحة: https://doi.org/10.1016/j.nmd.2018.06.372
https://avesis.hacettepe.edu.tr/publication/details/9635792d-7b14-4e6b-bb93-e289fb8d8fa8/oai

المؤلفون: Sarkozy, A., Fernandez-Garcia, M., Manzur, A., Mein, R., Bodi, I., Phadke, R., Wraige, E., Deshpande, C., Holder, S., Hurst, J., Gautel, M., Jungbluth, H., Muntoni, F.

المصدر: Neuromuscular Disorders ; volume 29, page S80 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2019.06.165
https://api.elsevier.com/content/article/PII:S096089661930553X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S096089661930553X?httpAccept=text/plain

المؤلفون: Brusa, C., Steel, D., Mein, R., Manzur, A., Robb, S., Munot, P., Wraige, E., Quinlivan, R., Main, M., Sewry, C., Feng, L., Phadke, R., Jungbluth, H., Sarkozy, A., Muntoni, F.

المصدر: Neuromuscular Disorders ; volume 29, page S96-S97 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2019.06.221
https://api.elsevier.com/content/article/PII:S0960896619306091?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896619306091?httpAccept=text/plain