Gonadotropin‐releasing hormone agonists for ovarian protection during cancer chemotherapy: systematic review and meta‐analysis von Senra, J. C., Roque, M., Talim, M. C. T., Reis, F. M., Tavares, R. L. C.

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Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies von Taylor, Robert W, Pyle, Angela, Griffin, Helen, Blakely, Emma L, Duff, Jennifer, He, Langping, Smertenko, Tania, Alston, Charlotte L, Neeve, Vivienne C, Best, Andrew, Yarham, John W, Kirschner, Janbernd, Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Baric, Ivo, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Kleinle, Stephanie, Morris, Andrew A. M, Vassallo, Grace, Gorman, Grainne S, Ramesh, Venkateswaran, Turnbull, Douglass M, Santibanez-Koref, Mauro, McFarland, Robert, Horvath, Rita, Chinnery, Patrick F

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Recessive TTN truncating mutations define novel forms of core myopathy with heart disease von Chauveau, Claire, Bonnemann, Carsten G, Julien, Cedric, Kho, Ay Lin, Marks, Harold, Talim, Beril, Maury, Philippe, Arne-Bes, Marie Christine, Uro-Coste, Emmanuelle, Alexandrovich, Alexander, Vihola, Anna, Schafer, Sebastian, Kaufmann, Beth, Medne, Livija, Hübner, Norbert, Foley, A Reghan, Santi, Mariarita, Udd, Bjarne, Topaloglu, Haluk, Moore, Steven A, Gotthardt, Michael, Samuels, Mark E, Gautel, Mathias, Ferreiro, Ana

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Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan von Godfrey, Caroline, Clement, Emma, Mein, Rachael, Brockington, Martin, Smith, Janine, Talim, Beril, Straub, Volker, Robb, Stephanie, Quinlivan, Ros, Feng, Lucy, Jimenez-Mallebrera, Cecilia, Mercuri, Eugenio, Manzur, Adnan Y., Kinali, Maria, Torelli, Silvia, Brown, Susan C., Sewry, Caroline A., Bushby, Kate, Topaloglu, Haluk, North, Kathryn, Abbs, Stephen, Muntoni, Francesco

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European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience von Ploeg, A. T., Kruijshaar, M. E., Toscano, A., Laforêt, P., Angelini, C., Lachmann, R. H., Pascual Pascual, S. I., Roberts, M., Rösler, K., Stulnig, T., Doorn, P. A., Van den Bergh, P. Y. K., Vissing, J., Schoser, B., Bembi, Bruno, Broomfield, Alexander, Boentert, Matthias, Desnuelle, Claude, Findling, Oliver, Hahn, Andreas, Díaz‐Manera, Jordi, Hundsberger, Thomas, Kornblum, Cornelia, Labarthé, Franҫois, Laforet, Pascal, Mengel, Karl‐Eugen, Mongini, Tiziana, Muller‐Felber, Wolfgang, Parenti, Giancarlo, Pijnappel, W. Pim, Preisler, Nicolai, Sacconi, Sabrina, Talim, Beril, Tardieu, Marine, Beek, Nadine A.M.E, Wenninger, Stephan

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Diagnostic approach to the congenital muscular dystrophies von Bönnemann, Carsten G, Wang, Ching H, Quijano-Roy, Susana, Deconinck, Nicolas, Bertini, Enrico, Ferreiro, Ana, Muntoni, Francesco, Sewry, Caroline, Béroud, Christophe, Mathews, Katherine D, Moore, Steven A, Bellini, Jonathan, Rutkowski, Anne, North, Kathryn N

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NMO-DBr: the Brazilian Neuromyelitis Optica Database System von Lana-Peixoto, Marco A, Talim, Lívia Edwiges, Faria-Campos, Alessandra C, Campos, Sérgio V A, Rocha, Cristiane F, Hanke, Lucas A, Talim, Natália, Batista, Paulo Henrique, Araujo, Carolina R, Kleinpaul, Rodrigo

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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy von Wong, Hui Hui, Seet, Sze Hwee, Maier, Michael, Gurel, Ayse, Traspas, Ricardo Moreno, Lee, Cheryl, Zhang, Shan, Talim, Beril, Loh, Abigail Y.T., Chia, Crystal Y., Teoh, Tze Shin, Sng, Danielle, Rensvold, Jarred, Unal, Sule, Shishkova, Evgenia, Cepni, Ece, Nathan, Fatima M., Sirota, Fernanda L., Liang, Chao, Yarali, Nese, Simsek-Kiper, Pelin O., Mitani, Tadahiro, Ceylaner, Serdar, Arman-Bilir, Ozlem, Mbarek, Hamdi, Gumruk, Fatma, Efthymiou, Stephanie, Uğurlu Çi̇men, Deniz, Georgiadou, Danai, Sotiropoulou, Kortessa, Houlden, Henry, Paul, Franziska, Pehlivan, Davut, Lainé, Candice, Chai, Guoliang, Ali, Nur Ain, Choo, Siew Chin, Keng, Soh Sok, Boisson, Bertrand, Yılmaz, Elanur, Xue, Shifeng, Coon, Joshua J., Ly, Thanh Thao Nguyen, Gilani, Naser, Hasbini, Dana, Kayserili, Hulya, Zaki, Maha S., Isfort, Robert J., Ordonez, Natalia, Tripolszki, Kornelia, Bauer, Peter, Rezaei, Nima, Seyedpour, Simin, Khotaei, Ghamar Taj, Bascom, Charles C., Maroofian, Reza, Chaabouni, Myriam, Alsubhi, Afaf, Eyaid, Wafaa, Işıkay, Sedat, Gleeson, Joseph G., Lupski, James R., Casanova, Jean-Laurent, Pagliarini, David J., Akarsu, Nurten A., Maurer-Stroh, Sebastian, Cetinkaya, Arda, Bertoli-Avella, Aida, Mathuru, Ajay S., Ho, Lena, Bard, Frederic A., Reversade, Bruno

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A case with acute reversible bilateral ptosis: SURF-1 deficiency von Dedeoglu, O, Yüksel, D, Sel Ç, Genc, Aksoy, E, Kilic, M, Oguz, K.K, Talim, B

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Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency von KEMP, John P, SMITH, Paul M, CZERMIN, Birgit, LOCHMÜLLER, Hanns, MCFARLAND, Robert, CHINNERY, Patrick F, CHRZANOWSKA-LIGHTOWLERS, Zofia M. A, LIGHTOWLERS, Robert N, TAYLOR, Robert W, HORVATH, Rita, PYLE, Angela, NEEVE, Vivienne C. M, TUPPEN, Helen A. L, SCHARA, Ulrike, TALIM, Beril, TOPALOGLU, Haluk, HOLINSKI-FEDER, Elke, ABICHT, Angela

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FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts von TOPALOGLU, H, BROCKINGTON, M, YUVA, Y, TALIM, B, HALILOGLU, G, BLAKE, D, TORELLI, S, BROWN, S. C, MUNTONI, F

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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy von Wong, Hui Hui, Seet, Sze Hwee, Maier, Michael, Gurel, Ayse, Traspas, Ricardo Moreno, Lee, Cheryl, Zhang, Shan, Talim, Beril, Loh, Abigail Y.T., Chia, Crystal Y., Teoh, Tze Shin, Sng, Danielle, Rensvold, Jarred, Unal, Sule, Shishkova, Evgenia, Cepni, Ece, Nathan, Fatima M., Sirota, Fernanda L., Liang, Chao, Yarali, Nese, Simsek-Kiper, Pelin O., Mitani, Tadahiro, Ceylaner, Serdar, Arman-Bilir, Ozlem, Mbarek, Hamdi, Gumruk, Fatma, Efthymiou, Stephanie, Çïmen, Deniz Uğurlu, Georgiadou, Danai, Sotiropoulou, Kortessa, Houlden, Henry, Paul, Franziska, Pehlivan, Davut, Lainé, Candice, Chai, Guoliang, Ali, Nur Ain, Choo, Siew Chin, Keng, Soh Sok, Boisson, Bertrand, Yılmaz, Elanur, Xue, Shifeng, Coon, Joshua J., Nguyen Ly, Thanh Thao, Gilani, Naser, Hasbini, Dana, Kayserili, Hulya, Zaki, Maha S., Isfort, Robert J., Ordonez, Natalia, Tripolszki, Kornelia, Bauer, Peter, Rezaei, Nima, Seyedpour, Simin, Khotaei, Ghamar Taj, Bascom, Charles C., Maroofian, Reza, Chaabouni, Myriam, Alsubhi, Afaf, Eyaid, Wafaa, Işıkay, Sedat, Gleeson, Joseph G., Lupski, James R., Casanova, Jean-Laurent, Pagliarini, David J., Akarsu, Nurten A., Maurer-Stroh, Sebastian, Cetinkaya, Arda, Bertoli-Avella, Aida, Mathuru, Ajay S., Ho, Lena, Bard, Frederic A., Reversade, Bruno

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A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Seve... von Jimenez-Mallebrera, Cecilia, Torelli, Silvia, Feng, Lucy, Kim, Jihee, Godfrey, Caroline, Clement, Emma, Mein, Rachael, Abbs, Stephen, Brown, Susan C., Campbell, Kevin P., Kröger, Stephan, Talim, Beril, Topaloglu, Haluk, Quinlivan, Ros, Roper, Helen, Childs, Anne M., Kinali, Maria, Sewry, Caroline A., Muntoni, Francesco

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G.P.34 von Chauveau, C, Bönnemann, C.G, Julien, C, Kho, A.L, Marks, H, Talim, B, Maury, P, Uro-Coste, E, Alexandrovich, A, Vihola, A, Foley, A.R, Santi, M, Udd, B, Topaloglu, H, Moore, S.A, Gotthardt, M, Samuels, M.E, Gautel, M, Ferreiro, A

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G.P.34: The expanding spectrum of congenital titinopathies von Chauveau, C., Bönnemann, C.G., Julien, C., Kho, A.L., Marks, H., Talim, B., Maury, P., Uro-Coste, E., Alexandrovich, A., Vihola, A., Foley, A.R., Santi, M., Udd, B., Topaloglu, H., Moore, S.A., Gotthardt, M., Samuels, M.E., Gautel, M., Ferreiro, A.

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Use of whole exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiency von Taylor, Robert W., Pyle, Angela, Griffin, Helen, Blakely, Emma L., Duff, Jennifer, He, Langping, Smertenko, Tania, Alston, Charlotte L., Neeve, Vivienne C., Best, Andrew, Yarham, John W., Kirschner, Janbernd, Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Baric, Ivo, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Kleinle, Stephanie, Morris, Andrew A.M., Vassallo, Grace, Gorman, Grainne S., Ramesh, Venkateswaran, Turnbull, Douglass M., Santibanez-Koref, Mauro, McFarland, Robert, Horvath, Rita, Chinnery, Patrick F.

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Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes von MERLINI, L, GOODING, R, LOCHMÜLLER, H, MÜLLER-FELBER, W, WALTER, M. C, ANGELICHEVA, D, TALIM, B, HALLMAYER, J, KALAYDJIEVA, L

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Aneurysmal bone cyst of the rib in a child: report of a case von Soyer, Tutku, Karnak, Ibrahim, Talim, Beril, Tanyel, F Cahit

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O.11 A novel congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis von Mitsuhashi, S, Ohkuma, A, Talim, B, Karahashi, M, Koumura, T, Aoyama, C, Kurihara, M, Mitsuhashi, H, Goto, K, Koksal, B, Kale, G, Noguchi, S, Hayashi, Y.K, Nonaka, I, Sher, R.B, Sugimoto, H, Nakagawa, Y, Cox, G.A, Topaloglu, H, Nishino, I

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A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of α-dystroglycan von Dinçer, Pervin, Balcı, Burcu, Yuva, Yeliz, Talim, Beril, Brockington, Martin, Dinçel, Deniz, Torelli, Silvia, Brown, Sue, Kale, Gülsev, Haliloǧlu, Göknur, Gerçeker, Filiz Özbas, Atalay, Rengül Çetin, Yakıcıer, Cengiz, Longman, Cheryl, Muntoni, Francesco, Topaloǧlu, Haluk

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