POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern von Servián-Morilla, E., Cabrera-Serrano, M., Johnson, K., Pandey, A., Ito, A., Rivas, E., Chamova, T., Muelas, N., Mongini, T., Nafissi, S., Claeys, K. G., Grewal, R. P., Takeuchi, M., Hao, H., Bönnemann, C., Lopes Abath Neto, O., Medne, L., Brandsema, J., Töpf, A., Taneva, A., Vilchez, J. J., Tournev, I., Haltiwanger, R. S., Takeuchi, H., Jafar-Nejad, H., Straub, V., Paradas, Carmen

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P175 Muscle biopsy methylome analysis creates well-defined clusters for inherited myopathies von Neto, O Lopes Abath, Moore, S.

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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern von Servian-Morilla, E, Cabrera-Serrano, M, Johnson, K, Pandey, A, Ito, A, Rivas, E, Chamova, T, Muelas, N, Mongini, T, Nafissi, S, Claeys, Kristl, Grewal, R.P, Takeuchi, M, Hao, H, Bönnemann, C, Lopes Abath Neto, O, Medne, L, Brandsema, J, Töpf, A, Taneva, A, Vilchez, J.J, Tournev, I, Haltiwanger, R.S, Takeuchi, H, Jafar-Nejad, H, Straub, V, Paradas, C

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CONGENITAL MYOPATHIES: GENERAL AND RYR1: P.41Dominant TNNC2 mutations cause a distinct congenital myopathy with vocal cord paralysis, ophthalmoplegia and clinical improvement over... von Donkervoort, S., Mohassel, P., Voermans, N., Quinn, C., van de Locht, M., de Winter, J., Conijn, S., Helmes, M., Medne, L., Lopes Abath Neto, O., Moore, S., Ottenheijm, C., Foley, A.R., Bönnemann, C.

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CONGENITAL MYOPATHIES: GENERAL AND RYR1 von Donkervoort, S., Mohassel, P., Voermans, N., Quinn, C., van de Locht, M., de Winter, J., Conijn, S., Helmes, M., Medne, L., Lopes Abath Neto, O., Moore, S., Ottenheijm, C., Foley, A.R., Bönnemann, C.

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Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration von Shashi, Vandana, Magiera, Maria M, Klein, Dennis, Zaki, Maha, Schoch, Kelly, Rudnik‐Schöneborn, Sabine, Norman, Andrew, Lopes Abath Neto, Osorio, Dusl, Marina, Yuan, Xidi, Bartesaghi, Luca, De Marco, Patrizia, Alfares, Ahmed A, Marom, Ronit, Arold, Stefan T, Guzmán‐Vega, Francisco J, Pena, Loren DM, Smith, Edward C, Steinlin, Maja, Babiker, Mohamed OE, Mohassel, Payam, Foley, A Reghan, Donkervoort, Sandra, Kaur, Rupleen, Ghosh, Partha S, Stanley, Valentina, Musaev, Damir, Nava, Caroline, Mignot, Cyril, Keren, Boris, Scala, Marcello, Tassano, Elisa, Picco, Paolo, Doneda, Paola, Fiorillo, Chiara, Issa, Mahmoud Y, Alassiri, Ali, Alahmad, Ahmed, Gerard, Amanda, Liu, Pengfei, Yang, Yaping, Ertl‐Wagner, Birgit, Kranz, Peter G, Wentzensen, Ingrid M, Stucka, Rolf, Stong, Nicholas, Allen, Andrew S, Goldstein, David B, Schoser, Benedikt, Rösler, Kai M, Alfadhel, Majid, Capra, Valeria, Chrast, Roman, Strom, Tim M, Kamsteeg, Erik‐Jan, Bönnemann, Carsten G, Gleeson, Joseph G, Martini, Rudolf, Janke, Carsten, Senderek, Jan

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HHV‐6 and hippocampal volume in patients with mesial temporal sclerosis von Akinsoji, Elizabeth O., Leibovitch, Emily, Billioux, B. Jeanne, Abath Neto, Osorio Lopes, Ray‐Chaudhury, Abhik, Inati, Sara K., Zaghloul, Kareem, Heiss, John, Jacobson, Steven, Theodore, William H.

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Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration von Shashi, Vandana, Magiera, Maria M, Klein, Dennis, Zaki, Maha, Schoch, Kelly, Rudnik‐Schöneborn, Sabine, Norman, Andrew, Lopes Abath Neto, Osorio, Dusl, Marina, Yuan, Xidi, Bartesaghi, Luca, De Marco, Patrizia, Alfares, Ahmed A, Marom, Ronit, Arold, Stefan T, Guzmán‐Vega, Francisco J, Pena, Loren DM, Smith, Edward C, Steinlin, Maja, Babiker, Mohamed OE, Mohassel, Payam, Foley, A Reghan, Donkervoort, Sandra, Kaur, Rupleen, Ghosh, Partha S, Stanley, Valentina, Musaev, Damir, Nava, Caroline, Mignot, Cyril, Keren, Boris, Scala, Marcello, Tassano, Elisa, Picco, Paolo, Doneda, Paola, Fiorillo, Chiara, Issa, Mahmoud Y, Alassiri, Ali, Alahmad, Ahmed, Gerard, Amanda, Liu, Pengfei, Yang, Yaping, Ertl‐Wagner, Birgit, Kranz, Peter G, Wentzensen, Ingrid M, Stucka, Rolf, Stong, Nicholas, Allen, Andrew S, Goldstein, David B, Schoser, Benedikt, Rösler, Kai M, Alfadhel, Majid, Capra, Valeria, Chrast, Roman, Strom, Tim M, Kamsteeg, Erik‐Jan, Bönnemann, Carsten G, Gleeson, Joseph G, Martini, Rudolf, Janke, Carsten, Senderek, Jan

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Endolymphatic sac tumor mimicking an aneurysmal bone cyst von Dier, Carlos, Abath Neto, Osorio Lopes, Policeni, Bruno, Freitas, Leonardo Furtado

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