المؤلفون: Fares, M.-B., Ait-Bouziad, N., Dikiy, I., Mbefo, M. K., Jovi i , A., Kiely, A., Holton, J. L., Lee, S.-J., Gitler, A. D., Eliezer, D., Lashuel, H. A.

المصدر: Human Molecular Genetics ; volume 23, issue 17, page 4491-4509 ; ISSN 0964-6906 1460-2083

الإتاحة: https://doi.org/10.1093/hmg/ddu165Test
http://academic.oup.com/hmg/article-pdf/23/17/4491/2196772/ddu165.pdfTest

المؤلفون: Legan, P. K., Yue, K. K. M., Chidgey, M. A. J., Holton, J. L., Wilkinson, R. W., Garrod, D. R.

المصدر: The Journal of Cell Biology, 1994 Jul 01. 126(2), 507-518.

الوصول الحر: https://www.jstor.org/stable/1616476Test

المؤلفون: Vollstedt, E. -J., Kasten, M., Klein, C., Aasly, J., Adler, C., Ahmad-Annuar, A., Albanese, A., Alcalay, R. N., Al-Mubarak, B., Alvarez, V., Andree-Muñoz, B., Annesi, G., Appel-Cresswell, S., Arkadir, D., Armasu, S., Barber, T. R., Bardien, S., Barkhuizen, M., Barrett, M. J., Başak, A. N., Beach, T., Benitez, B. A., Berg, D., Bhatia, K., Binkofski, F., Blauwendraat, C., Bonifati, V., Borges, V., Bozi, M., Brice, A., Brighina, L., Brockmann, K., Brücke, T., Brüggemann, N., Camacho, M., Cardoso, F., Belin, A. C., Carr, J., Chan, P., Chang-Castello, J., Chase, B., Chen-Plotkin, A., Ju Chung, S., Cilia, R., Clarimon, J., Clark, L., Cornejo-Olivas, M., Corvol, J. -C., Cosentino, C., Cras, P., Crosiers, D., Damásio, J., Das, P., de Carvalho Aguiar, P., De Michele, G., De Rosa, A., Dieguez, E., Dorszewska, J., Erer, S., Ertan, S., Farrer, M., Fedotova, E., Ferese, R., Ferrarese, C., Ferraz, H., Fiala, O., Foroud, T., Friedman, A., Frigerio, R., Funayama, M., Gambardella, S., Garraux, G., Gatto, E. M., Genç, G., Giladi, N., Goldwurm, S., Gomez-Esteban, J. C., Gómez-Garre, P., Gorostidi, A., Grosset, D., Hanagasi, H., Hardy, J., Hassan, A., Hattori, N., Hauser, R. A., Hedera, P., Hentati, F., Hertz, J. M., Holton, J. L., Houlden, H., Hutz, M. H., Ikeuchi, T., Illarioshkin, S., Inca-Martinez, M., Infante, J., Jankovic, J., Jeon, B. S., Jesús, S., Jimenez-Del-Rio, M., Kaasinen, V., Kataoka, H., Kawakami, H., Kim, Y. J., Klivényi, P., Koks, S., König, I. R., Kostić, V., Koziorowski, D., Krüger, R., Krygowska-Wajs, A., Kulisevsky, J., Lai, D., Lang, A., LeDoux, M., Lesage, S., Lim, S. -Y., Lin, C. -H., Lohmann, K., Lopera, F., Lopez, G., Lu, C. -S., Lynch, T., Machaczka, M., Madoev, H., Magalhães, M., Majamaa, K., Maraganore, D., Marder, K., Markopoulou, K., Martikainen, M. H., Mata, I., Mazzetti, P., Mellick, G., Menéndez-González, M., Micheli, F., Mirelman, A., Mir, P., Morino, H., Morris, H., Munhoz, R. P., Naito, A., Olszewska, D. A., Ozelius, L. J., Padmanabhan, S., Paisán-Ruiz, C., Payami, H., Peluso, S., Petkovic, S., Petrucci, S., Pezzoli, G., Pimentel, M., Pirker, W., Pramstaller, P. P., Pulkes, T., Puschmann, A., Quattrone, A., Raggio, V., Ransmayr, G., Rieder, C., Riess, O., Rodriguez-Porcel, F., Rogaeva, E., Ross, O. A., Ruiz-Martinez, J., Sammler, E., San Luciano, M., Satake, W., Saunders-Pullman, R., Sazci, A., Scherzer, C., Schrag, A., Schumacher-Schuh, A., Sharma, M., Sidransky, E., Singleton, A. B., Petersen, M. S., Smolders, S., Spitz, M., Stefanis, L., Struhal, W., Sue, C. M., Swan, M., Swanberg, M., Taba, P., Taipa, R., Tan, M., Tan, A. H., Tan, E. -K., Tang, B., Tayebi, N., Thaler, A., Thomas, A., Toda, T., Toft, M., Torres, L., Tumas, V., Valente, E. M., Van Broeckhoven, C., Vecsei, L., Velez-Pardo, C., Vidailhet, M., Warner, T. T., Williams-Gray, C. H., Winkelmann, J., Woitalla, D., Wood, N. W., Wszolek, Z. K., Wu, R. -M., Wu, Y. -R., Xie, T., Yoshino, H., Zhang, B., Zimprich, A.

المساهمون: Vollstedt, E. -J., Kasten, M., Klein, C., Aasly, J., Adler, C., Ahmad-Annuar, A., Albanese, A., Alcalay, R. N., Al-Mubarak, B., Alvarez, V., Andree-Muñoz, B., Annesi, G., Appel-Cresswell, S., Arkadir, D., Armasu, S., Barber, T. R., Bardien, S., Barkhuizen, M., Barrett, M. J., Başak, A. N., Beach, T., Benitez, B. A., Berg, D., Bhatia, K., Binkofski, F., Blauwendraat, C., Bonifati, V., Borges, V., Bozi, M., Brice, A., Brighina, L., Brockmann, K., Brücke, T., Brüggemann, N., Camacho, M., Cardoso, F., Belin, A. C., Carr, J., Chan, P., Chang-Castello, J., Chase, B., Chen-Plotkin, A., Ju Chung, S., Cilia, R., Clarimon, J., Clark, L., Cornejo-Olivas, M., Corvol, J. -C., Cosentino, C., Cras, P., Crosiers, D., Damásio, J., Das, P., de Carvalho Aguiar, P., De Michele, G., De Rosa, A., Dieguez, E., Dorszewska, J., Erer, S., Ertan, S., Farrer, M., Fedotova, E., Ferese, R., Ferrarese, C., Ferraz, H., Fiala, O., Foroud, T., Friedman, A., Frigerio, R., Funayama, M., Gambardella, S., Garraux, G., Gatto, E. M., Genç, G., Giladi, N., Goldwurm, S., Gomez-Esteban, J. C., Gómez-Garre, P., Gorostidi, A., Grosset, D., Hanagasi, H., Hardy, J., Hassan, A., Hattori, N., Hauser, R. A., Hedera, P., Hentati, F., Hertz, J. M., Holton, J. L., Houlden, H., Hutz, M. H., Ikeuchi, T., Illarioshkin, S., Inca-Martinez, M., Infante, J., Jankovic, J., Jeon, B. S., Jesús, S., Jimenez-Del-Rio, M., Kaasinen, V.

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000475670500001; volume:86; issue:2; firstpage:153; lastpage:157; numberofpages:5; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/11576/2669895Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068207273

الإتاحة: https://doi.org/10.1002/ana.25514Test
http://hdl.handle.net/11576/2669895Test

المؤلفون: Bugiardini E., Khan A. M., Phadke R., Lynch D. S., Cortese A., Feng L., Gang Q., Pittman A. M., Morrow J. M., Turner C., Carr A. S., Quinlivan R., Rossor A. M., Holton J. L., Parton M., Blake J. C., Reilly M. M., Houlden H., Matthews E., Hanna M. G.

المساهمون: Bugiardini, E., Khan, A. M., Phadke, R., Lynch, D. S., Cortese, A., Feng, L., Gang, Q., Pittman, A. M., Morrow, J. M., Turner, C., Carr, A. S., Quinlivan, R., Rossor, A. M., Holton, J. L., Parton, M., Blake, J. C., Reilly, M. M., Houlden, H., Matthews, E., Hanna, M. G.

مصطلحات موضوعية: Distal myopathy, Inherited myopathie, Molecular diagnosi, Next generation sequencing, Adult, Aged, 80 and over, Female, High-Throughput Nucleotide Sequencing, Human, Male, Middle Aged, Muscle Protein, Mutation, Myopathies, Structural, Congenital, Phenotype

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31561939; info:eu-repo/semantics/altIdentifier/wos/WOS:000496871200003; volume:29; issue:10; firstpage:747; lastpage:757; numberofpages:11; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11571/1349914Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072529170; https://www.sciencedirect.com/science/article/pii/S0960896619310776?via=ihubTest

الإتاحة: https://doi.org/10.1016Test/j.nmd.2019.08.003
http://hdl.handle.net/11571/1349914Test
https://www.sciencedirect.com/science/article/pii/S0960896619310776?via=ihubTest

المؤلفون: Li, A., Paudel, R., Johnson, R., Courtney, R., Lees, A. J., Holton, J. L., Hardy, J., Revesz, T., Houlden, H.

المصدر: Neuropathology and Applied Neurobiology ; volume 39, issue 2, page 121-131 ; ISSN 0305-1846 1365-2990

الإتاحة: https://doi.org/10.1111Test/j.1365-2990.2012.01269.x

المؤلفون: Brady, S, Squier, W, Hilton-Jones, D, Sewry, C, Holton, J L

مصطلحات موضوعية: ABN abstracts

وصف الملف: text/html

العلاقة: http://jnnp.bmj.com/cgi/content/short/83/3/e1-ehTest; http://dx.doi.org/10.1136/jnnp-2011-301993.138Test

الإتاحة: https://doi.org/10.1136/jnnp-2011-301993.138Test
http://jnnp.bmj.com/cgi/content/short/83/3/e1-ehTest

المؤلفون: Compta, Y., Parkkinen, L., O'Sullivan, S. S., Vandrovcova, J., Holton, J. L., Collins, C., Lashley, T., Kallis, C., Williams, D. R., de Silva, R., Lees, A. J., Revesz, T.

المصدر: Brain ; volume 134, issue 5, page 1493-1505 ; ISSN 0006-8950 1460-2156

الإتاحة: https://doi.org/10.1093/brain/awr031Test
http://academic.oup.com/brain/article-pdf/134/5/1493/13794450/awr031.pdfTest

المؤلفون: Rohrer, J. D., Lashley, T., Schott, J. M., Warren, J. E., Mead, S., Isaacs, A. M., Beck, J., Hardy, J., de Silva, R., Warrington, E., Troakes, C., Al-Sarraj, S., King, A., Borroni, B., Clarkson, M. J., Ourselin, S., Holton, J. L., Fox, N. C., Revesz, T., Rossor, M. N., Warren, J. D.

المصدر: Brain ; volume 134, issue 9, page 2565-2581 ; ISSN 0006-8950 1460-2156

الإتاحة: https://doi.org/10.1093/brain/awr198Test
http://academic.oup.com/brain/article-pdf/134/9/2565/17346961/awr198.pdfTest

المؤلفون: Lashley, T., Rohrer, J. D., Bandopadhyay, R., Fry, C., Ahmed, Z., Isaacs, A. M., Brelstaff, J. H., Borroni, B., Warren, J. D., Troakes, C., King, A., Al-Saraj, S., Newcombe, J., Quinn, N., Ostergaard, K., Schroder, H. D., Bojsen-Moller, M., Braendgaard, H., Fox, N. C., Rossor, M. N., Lees, A. J., Holton, J. L., Revesz, T.

المصدر: Brain ; volume 134, issue 9, page 2548-2564 ; ISSN 0006-8950 1460-2156

مصطلحات موضوعية: Neurology (clinical)

الإتاحة: https://doi.org/10.1093/brain/awr160Test
http://academic.oup.com/brain/article-pdf/134/9/2548/1145467/awr160.pdfTest

المؤلفون: Graves, T, Phadke, R, Holton, J L, Hanna, M G, Rahman, S, Bhardwaj, N

مصطلحات موضوعية: ABN Abstracts

وصف الملف: text/html

العلاقة: http://jnnp.bmj.com/cgi/content/short/81/11/e65-dTest; http://dx.doi.org/10.1136/jnnp.2010.226340.194Test

الإتاحة: https://doi.org/10.1136/jnnp.2010.226340.194Test
http://jnnp.bmj.com/cgi/content/short/81/11/e65-dTest