EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients von Celmina, M., Micule, I., Inashkina, I., Audere, M., Kuske, S., Pereca, J., Stavusis, J., Pelnena, D., Strautmanis, J.

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279P Exploring myogenic tremor in an animal model of MYBPC1-associated myopathy: a comprehensive study von Inashkina, I., Zdanovica, A., Lunge, M., Zayakin, P., Upite, J., Dzirkale, Z., Alnis, J., Lace, B., Jansone, B., Stavusis, J.

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Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases von Murakami, Yoshiko, Nguyen, Thi Tuyet Mai, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba, Rousseau, Justine, Ajeawung, Norbert Fonya, Kamei, Atsushi, Minase, Gaku, Akasaka, Manami, Araya, Nami, Koshimizu, Eriko, van den Ende, Jenneke, Erger, Florian, Altmüller, Janine, Krumina, Zita, Strautmanis, Jurgis, Inashkina, Inna, Stavusis, Janis, El-Gharbawy, Areeg, Sebastian, Jessica, Puri, Ratna Dua, Kulshrestha, Samarth, Verma, Ishwar C., Maier, Esther M., Haack, Tobias B., Israni, Anil, Baptista, Julia, Gunning, Adam, Rosenfeld, Jill A., Liu, Pengfei, Joosten, Marieke, Rocha, María Eugenia, Hashem, Mais O., Aldhalaan, Hesham M., Alkuraya, Fowzan S., Miyatake, Satoko, Matsumoto, Naomichi, Krawitz, Peter M., Rossignol, Elsa, Kinoshita, Taroh, Campeau, Philippe M.

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LGMD: EP.195 The most common CAPN3 disease causing variant in north-eastern Europe population or controversial coincidence von Lace, B., Stavusis, J., Micule, I., Kenina, V., Taurina, G., Zdanovica, A., Mroczek, M., Burnyte, B., Inaskina, I.

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LGMD von Lace, B., Stavusis, J., Micule, I., Kenina, V., Taurina, G., Zdanovica, A., Mroczek, M., Burnyte, B., Inaskina, I.

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A New Baltic Population-Specific Human Genetic Marker in the PMCA4 Gene von Stavusis, Janis, Inashkina, Inna, Lace, Baiba, Pelnena, Dita, Limborska, Svetlana, Khrunin, Andrey, Kucinskas, Vaidutis, Krumina, Astrida, Piekuse, Linda, Zorn, Branko, Fodina, Violeta, Punab, Margus, Erenpreiss, Juris

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Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate von Mangold, E, Böhmer, AC, Ishorst, N, Hoebel, AK, Gültepe, P, Schuenke, H, Klamt, J, Hofmann, A, Gölz, L, Raff, R, Tessmann, P, Nowak, S, Reutter, H, Hemprich, A, Kreusch, T, Kramer, FJ, Braumann, B, Reich, R, Schmidt, G, Jäger, A, Reiter, R, Brosch, S, Stavusis, J, Ishida, M, Seselgyte, R, Moore, GE, Nöthen, MM, Borck, G, Aldhorae, KA, Lace, B, Stanier, P, Knapp, M, Ludwig, KU

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CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related von Mroczek, Magdalena, Inashkina, Inna, Stavusis, Janis, Zayakin, Pawel, Khrunin, Andrey, Micule, Ieva, Kenina, Victorija, Zdanovica, Anna, Zídková, Jana, Fajkusová, Lenka, Limborska, Svetlana, Kooi, Anneke J., Brusse, Esther, Leonardis, Lea, Maver, Ales, Pajusalu, Sander, Õunap, Katrin, Puusepp, Sanna, Dobosz, Paula, Sypniewski, Mateusz, Burnyte, Birute, Lace, Baiba

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Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy von Jankevics, Eriks, Lace, Baiba, Stavusis, Janis, Strautmanis, Jurgis, Naudina, Maruta Solvita, Inashkina, Inna, Micule, Ieva, Vasiljeva, Inta

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