Prevalence of Nonstenosing, Complicated Atherosclerotic Plaques in Cryptogenic Stroke von Freilinger, Tobias M., MD, Schindler, Andreas, BSc, Schmidt, Caroline, MD, Grimm, Jochen, MD, Cyran, Clemens, MD, Schwarz, Florian, MD, Bamberg, Fabian, MD, Linn, Jennifer, MD, Reiser, Maximilian, MD, Yuan, Chun, PhD, Nikolaou, Konstantin, MD, Dichgans, Martin, MD, Saam, Tobias, MD

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Molecular genetic overlap between migraine and major depressive disorder von Yang, Yuanhao, Zhao, Huiying, Boomsma, Dorret I, Ligthart, Lannie, Belin, Andrea C., Smith, George Davey, Esko, Tonu, Freilinger, Tobias M., Hansen, Thomas Folkmann, Ikram, M. Arfan, Kallela, Mikko, Kubisch, Christian, Paraskevi, Christofidou, Strachan, David P., Wessman, Maija, van den Maagdenberg, Arn M. J. M., Terwindt, Gisela M., Nyholt, Dale R.

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A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and ske... von Bader, Ingrid, Freilinger, M, Landauer, F, Waldmüller, S, Mueller-Felber, W, Rauscher, C, Sperl, W, Bittner, R E, Schmidt, W M, Mayr, J A

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Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine von Gormley, Padhraig, Anttila, Verneri, Winsvold, Bendik S, Palta, Priit, Esko, Tonu, Pers, Tune H, Farh, Kai-How, Cuenca-Leon, Ester, Furlotte, Nicholas A, Kurth, Tobias, Ingason, Andres, McMahon, George, Ligthart, Lannie, Terwindt, Gisela M, Kallela, Mikko, Freilinger, Tobias M, Ran, Caroline, Gordon, Scott G, Stam, Anine H, Steinberg, Stacy, Borck, Guntram, Koiranen, Markku, Quaye, Lydia, Adams, Hieab H H, Lehtimäki, Terho, Sarin, Antti-Pekka, Wedenoja, Juho, Hinds, David A, Buring, Julie E, Schürks, Markus, Ridker, Paul M, Hrafnsdottir, Maria Gudlaug, Stefansson, Hreinn, Ring, Susan M, Hottenga, Jouke-Jan, Penninx, Brenda W J H, Färkkilä, Markus, Kaunisto, Mari, Vepsäläinen, Salli, Malik, Rainer, Heath, Andrew C, Madden, Pamela A F, Martin, Nicholas G, Kurki, Mitja I, Kals, Mart, Mägi, Reedik, Pärn, Kalle, Hämäläinen, Eija, Huang, Hailiang, Byrnes, Andrea E, Franke, Lude, Huang, Jie, Stergiakouli, Evie, Lee, Phil H, Sandor, Cynthia, Webber, Caleb, Cader, Zameel, Muller-Myhsok, Bertram, Schreiber, Stefan, Meitinger, Thomas, Eriksson, Johan G, Salomaa, Veikko, Heikkilä, Kauko, Loehrer, Elizabeth, Uitterlinden, Andre G, Hofman, Albert, van Duijn, Cornelia M, Cherkas, Lynn, Pedersen, Linda M, Stubhaug, Audun, Nielsen, Christopher S, Männikkö, Minna, Mihailov, Evelin, Milani, Lili, Göbel, Hartmut, Esserlind, Ann-Louise, Christensen, Anne Francke, Werge, Thomas, Kaprio, Jaakko, Aromaa, Arpo J, Raitakari, Olli, Ikram, M Arfan, Spector, Tim, Järvelin, Marjo-Riitta, Metspalu, Andres, Kubisch, Christian, Strachan, David P, Dichgans, Martin, Wessman, Maija, Zwart, John-Anker, Boomsma, Dorret I, Smith, George Davey, Stefansson, Kari, Eriksson, Nicholas, Daly, Mark J, Neale, Benjamin M, Olesen, Jes, Chasman, Daniel I, Nyholt, Dale R, Palotie, Aarno

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Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia von Chung, Seo-Kyung, Vanbellinghen, Jean-François, Mullins, Jonathan G L, Robinson, Angela, Hantke, Janina, Hammond, Carrie L, Gilbert, Daniel F, Freilinger, Michael, Ryan, Monique, Kruer, Michael C, Masri, Amira, Gurses, Candan, Ferrie, Colin, Harvey, Kirsten, Shiang, Rita, Christodoulou, John, Andermann, Frederick, Andermann, Eva, Thomas, Rhys H, Harvey, Robert J, Lynch, Joseph W, Rees, Mark I

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Pompe disease in Austria: clinical, genetic and epidemiological aspects von Löscher, W. N., Huemer, M., Stulnig, T. M., Simschitz, P., Iglseder, S., Eggers, C., Moser, H., Möslinger, D., Freilinger, M., Lagler, F., Grinzinger, S., Reichhardt, M., Bittner, R. E., Schmidt, W. M., Lex, U., Brunner-Krainz, M., Quasthoff, S., Wanschitz, J. V.

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Adverse events associated with deep brain stimulation in patients with childhood-onset dystonia von Koy, A., Bockhorn, N., Kühn, A.A., Schneider, G.-H., Krause, P., Lauritsch, K., Witt, K., Paschen, S., Deuschl, G., Krauss, J.K., Saryyeva, A., Runge, J., Borggraefe, I., Mehrkens, J.H., Horn, A., Vesper, J., Schnitzler, A., Siegert, S., Freilinger, M., Eckenweiler, M., Coenen, V.A., Tadic, V., Voges, J., Pauls, K.A.M., Wirths, J., Timmermann, L., Hellmich, M., Abdallat, Mahmoud, Ascencao, Laura Cassini, Grünwald, Svetlana, Wloch, Andreas, Schrader, Christoph, Groiss, Stefan J., Wojtecki, Lars

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Shared genetic risk between migraine and coronary artery disease: A genome-wide analysis of common variants von Winsvold, Bendik S, Bettella, Francesco, Witoelar, Aree, Anttila, Verneri, Gormley, Padhraig, Kurth, Tobias, Terwindt, Gisela M, Freilinger, Tobias M, Frei, Oleksander, Shadrin, Alexey, Wang, Yunpeng, Dale, Anders M, van den Maagdenberg, Arn M J M, Chasman, Daniel I, Nyholt, Dale R, Palotie, Aarno, Andreassen, Ole A, Zwart, John-Anker

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OP62 – 2508: Anti-NMDA receptor antibody status in 3 cases of infant choreo-athetotic movement disorder following HSV-1 encephalitis von Breu, M, Freilinger, M, Seidl, R, Höftberger, R

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Tumor-Induced Hypophosphatemic Rickets in an Adolescent Boy—Clinical Presentation, Diagnosis, and Histological Findings in Growth Plate and Muscle Tissue von Haeusler, G, Freilinger, M, Dominkus, M, Egerbacher, M, Amann, G, Kolb, A, Schlegel, W, Raimann, A, Staudenherz, A

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MECP2 mutation in one of Rett’s original patients von Freilinger, M, Berndt, A, Haas, O A

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Isolated cytochrome c oxidase deficiency as a cause of MELAS von Rossmanith, W, Freilinger, M, Roka, J, Raffelsberger, T, Moser-Thier, K, Prayer, D, Bernert, G, Bittner, R E

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Learning about neurodiversity from parents – Auditory gestalt perception of prelinguistic vocalisations von Zhang, Dajie, Lang, Sigrun, Wilken, Bernd, Einspieler, Christa, Neul, Jeffrey L., Bölte, Sven, Holzinger, Daniel, Freilinger, Michael, Poustka, Luise, Sigafoos, Jeff, Marschik, Peter B.

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DUCHENNE MUSCULAR DYSTROPHY - GENETICS von Ille, A., Schmidt, W.M., Gosk-Tomek, M., Weiss, S., Freilinger, M., Bittner, R.E., Bernert, G.

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DUCHENNE MUSCULAR DYSTROPHY - GENETICS: P.224Whole-genome sequencing reveals a complex intra-chromosomal rearrangement disrupting the dystrophin gene due to an intronic 0.5 Mb-inse... von Ille, A., Schmidt, W.M., Gosk-Tomek, M., Weiss, S., Freilinger, M., Bittner, R.E., Bernert, G.

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Herpes simplex virus type 2 meningitis and symptomatic migraine von Freilinger, Tobias M., Lieb, Martin, Schankin, Christoph, Noachtar, Soheyl

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Behavioural biomarkers of typical Rett syndrome: moving towards early identification von Einspieler, Christa, Freilinger, Michael, Marschik, Peter B.

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Cerebral small vessel disease genomics and its implications across the lifespan von Sargurupremraj, Muralidharan, Suzuki, Hideaki, Jian, Xueqiu, Sarnowski, Chloé, Evans, Tavia E., Eiriksdottir, Gudny, Sakaue, Saori, Terzikhan, Natalie, Zhao, Wei, Armstrong, Nicola J., Yanek, Lisa R., Kumar, Rajan B., van den Akker, Erik B., McWhirter, Rebekah E., Trompet, Stella, Mishra, Aniket, Saba, Yasaman, Satizabal, Claudia L., Beaudet, Gregory, Petit, Laurent, Tsuchida, Ami, Schilling, Sabrina, Sigurdsson, Sigurdur, Lewis, Cora E., Lopez, Oscar L., Smith, Jennifer A., Valdés Hernández, Maria C., van der Grond, Jeroen, Wright, Margaret J., Knol, Maria J., Thomson, Russell J., Le Grand, Quentin, Duperron, Marie-Gabrielle, Smith, Albert V., Schreiner, Pamela J., Evans, Denis A., Rotter, Jerome I., Beiser, Alexa S., Maniega, Susana Muñoz, Beekman, Marian, Trollor, Julian, Stott, David J., Vernooij, Meike W., Wittfeld, Katharina, Niessen, Wiro J., Soumaré, Aicha, Sidney, Stephen, Turner, Stephen T., Davies, Gail, Thalamuthu, Anbupalam, Völker, Uwe, van Buchem, Mark A., Dupuis, Josée, Bastin, Mark E., Teumer, Alexander, Amouyel, Philippe, Kwok, John B., Bülow, Robin, Deary, Ian J., Schofield, Peter R., Brodaty, Henry, Jiang, Jiyang, Tabara, Yasuharu, Setoh, Kazuya, Miyamoto, Susumu, Yoshida, Kazumichi, Nagata, Manabu, Matsuda, Fumihiko, Psaty, Bruce M., Bennett, David A., De Jager, Philip L., Mosley, Thomas H., Sachdev, Perminder S., Schmidt, Reinhold, Evangelou, Evangelos, Trégouët, David-Alexandre, Ikram, Mohammad A., DeCarli, Charles, Srikanth, Velandai K., Jukema, J. Wouter, Slagboom, Eline P., Kardia, Sharon L. R., Okada, Yukinori, Mazoyer, Bernard, Wardlaw, Joanna M., Nyquist, Paul A., Mather, Karen A., Grabe, Hans J., Schmidt, Helena, Van Duijn, Cornelia M., Gudnason, Vilmundur, Longstreth, William T., Launer, Lenore J., Lathrop, Mark, Seshadri, Sudha, Tzourio, Christophe, Adams, Hieab H., Matthews, Paul M., Fornage, Myriam, Debette, Stéphanie

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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders von Travaglini, Lorena, Brancati, Francesco, Silhavy, Jennifer, Iannicelli, Miriam, Nickerson, Elizabeth, Elkhartoufi, Nadia, Scott, Eric, Spencer, Emily, Gabriel, Stacey, Thomas, Sophie, Ben-Zeev, Bruria, Bertini, Enrico, Boltshauser, Eugen, Chaouch, Malika, Cilio, Maria Roberta, de Jong, Mirjam M, Kayserili, Hulya, Ogur, Gonul, Poretti, Andrea, Signorini, Sabrina, Uziel, Graziella, Zaki, Maha S, Johnson, Colin, Attié-Bitach, Tania, Gleeson, Joseph G, Valente, Enza Maria

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50 years of Rett syndrome, 1966–2016: From parents to clinicians to scientists, and for parents, clinicians, and scientist von Freilinger, Michael, Marschik, Peter B.

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