Pregnancy reduces severity and frequency of attacks in hyperkalemic periodic paralysis due to the mutation c.2111C>T in the SCN4A gene by Josef Finsterer, Salma Majid Wakil, Franco Laccone

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Simpson-Golabi-Behmel-Syndrome in Dichorionic-Diamniotic Twin Pregnancy by Theresa Reischer, Franco Laccone, Gregor J. Kasprian, Gülen Yerlikaya-Schatten

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Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort by Martin Koenighofer, Thomas Parzefall, Alexandra Frohne, Matthew Allen, Ursula Unterberger, Franco Laccone, Christian Schoefer, Klemens Frei, Trevor Lucas

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Progression to kidney failure in ADPKD: the PROPKD score underestimates the risk assessed by the Mayo imaging classification by Daniela Maria Allmer, Diego Parada Rodriguez, Christof Aigner, Franco Laccone, Mato Nagel, Sylvia Metz-Schimmerl, Gere Sunder-Plassmann

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Efficacy and safety of Everolimus in children with TSC - associated epilepsy – Pilot data from an open single-center prospective study by Sharon Samueli, Klaus Abraham, Anastasia Dressler, Gudrun Gröppel, Angelika Mühlebner-Fahrngruber, Theresa Scholl, Gregor Kasprian, Franco Laccone, Martha Feucht

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The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review by Marlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx, Brecht Guillemyn, Sofie Symoens, Fransiska Malfait

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Outcome after Prenatal Diagnosis of Trisomy 13, 18, and 21 in Fetuses with Congenital Heart Disease by Stephanie Springer, Eva Karner, Christof Worda, Maria Magdalena Grabner, Elisabeth Seidl-Mlczoch, Franco Laccone, Jürgen Neesen, Anke Scharrer, Barbara Ulm

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Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations by Helga Rehder, Susanne G. Kircher, Katharina Schoner, Mateja Smogavec, Jana Behunova, Ulrike Ihm, Margit Plassmann, Manuel Hofer, Helmut Ringl, Franco Laccone

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Phenotyping of a novel COL4A4 and novel GLA variant in a patient presenting with microhematuria and mildly impaired kidney function: a case report by Markus Ponleitner, Daniela Maria Allmer, Manfred Hecking, Constantin Gatterer, Senta Graf, Mateja Smogavec, Franco Laccone, Paulus Stefan Rommer, Gere Sunder-Plassmann

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Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic. by Jasmin Schiessl-Weyer, Pedro Roa, Franco Laccone, Britta Kluge, Alexander Tichy, Euripedes De Almeida Ribeiro, Rainer Prohaska, Peter Stoeter, Claudia Siegl, Ulrich Salzer

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Correction: Increasing Live Birth Rate by Preimplantation Genetic Screening of Pooled Polar Bodies Using Array Comparative Genomic Hybridization. by Michael Feichtinger, Tina Stopp, Christian Göbl, Elisabeth Feichtinger, Enrico Vaccari, Ulrike Mädel, Franco Laccone, Monika Stroh-Weigert, Markus Hengstschläger, Wilfried Feichtinger, Jürgen Neesen

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Increasing live birth rate by preimplantation genetic screening of pooled polar bodies using array comparative genomic hybridization. by Michael Feichtinger, Tina Stopp, Christian Göbl, Elisabeth Feichtinger, Enrico Vaccari, Ulrike Mädel, Franco Laccone, Monika Stroh-Weigert, Markus Hengstschläger, Wilfried Feichtinger, Jürgen Neesen

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A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeats by Jana Boy, Thorsten Schmidt, Ulrike Schumann, Ute Grasshoff, Samy Unser, Carsten Holzmann, Ina Schmitt, Tim Karl, Franco Laccone, Hartwig Wolburg, Saleh Ibrahim, Olaf Riess

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COVID-19 as a putative trigger of anti-MDA5-associated dermatomyositis with acute respiratory distress syndrome (ARDS) requiring lung transplantation, a case report by Karolina Anderle, Klaus Machold, Hans P. Kiener, Daniel Bormann, Konrad Hoetzenecker, Silvana Geleff, Helmut Prosch, Franco Laccone, Peter M. Heil, Peter Petzelbauer, Daniel Aletaha, Stephan Blüml, Kastriot Kastrati

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Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case by Mateja Pfeifer, Helga Rehder, Maria Gerykova Bujalkova, Christine Bartsch, Barbara Fritz, Cordula Knopp, Björn Beckers, Frank Dohle, Matthias Meyer-Wittkopf, Roland Axt-Fliedner, Alexander V. Beribisky, Manuel Hofer, Franco Laccone, Katharina Schoner

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A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation by Thomas Parzefall, Alexandra Frohne, Alexandra Frohne, Martin Koenighofer, Juergen Neesen, Franco Laccone, Julia Eckl-Dorna, Jonathan J. Waters, Markus Schreiner, Sami Samir Amr, Sami Samir Amr, Emma Ashton, Christian Schoefer, Wolfgang Gstœttner, Klemens Frei, Trevor Lucas

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Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease by Antti Tallgren, Leo Kager, Leo Kager, Leo Kager, Gina O’Grady, Hannu Tuominen, Jarmo Körkkö, Outi Kuismin, Outi Kuismin, Martha Feucht, Callum Wilson, Jana Behunova, Eleina England, Mitja I. Kurki, Mitja I. Kurki, Mitja I. Kurki, Aarno Palotie, Aarno Palotie, Aarno Palotie, Aarno Palotie, Aarno Palotie, Mikko Hallman, Mikko Hallman, Riitta Kaarteenaho, Riitta Kaarteenaho, Franco Laccone, Kaan Boztug, Kaan Boztug, Kaan Boztug, Kaan Boztug, Reetta Hinttala, Reetta Hinttala, Johanna Uusimaa, Johanna Uusimaa

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Abstracts from the 20th International Symposium on Signal Transduction at the Blood-Brain Barriers by Andrzej Małecki, Janina Skipor-Lahuta, Michal Toborek, N. Joan Abbott, David A. Antonetti, Enming Joe Su, Daniel A. Lawrence, Müge Atış, Uğur Akcan, Canan Uğur Yılmaz, Nurcan Orhan, Poyraz Düzgün, Umut Deniz Ceylan, Nadir Arıcan, Serçin Karahüseyinoğlu, Gizem Nur Şahin, Bülent Ahıshalı, Mehmet Kaya, Sidar Aydin, Armelle Klopstein, Britta Engelhardt, Julia Baumann, Chih-Chieh Tsao, Sheng-Fu Huang, Omolara Ogunshola, Elizaveta B. Boytsova, Andrey V. Morgun, Elena D. Khilazheva, Elena A. Pozhilenkova, Yana V. Gorina, Galina P. Martynova, Alla B. Salmina, David Bueno, Jordi Garcia-Fernàndez, Victor Castro, Marta Skowronska, Michal Toborek, Matheus Uba Chupel, Luciele Guerra Minuzzi, Edith Filaire, Ana Maria Teixeira, Mariangela Corsi, Romain Versele, Andrea Fuso, Emmanuel Sevin, Cherubino Di Lorenzo, Rita Businaro, Laurence Fenart, Fabien Gosselet, Pietra Candela, Mária A. Deli, Conor Delaney, Eoin O’Keefe, Michael Farrell, Sarah Doyle, Matthew Campbell, Lester R. Drewes, A. Appelt-Menzel, A. Cubukova, M. Metzger, R. Fischer, David M. F. Francisco, Rémy Bruggmann, Alexa Fries, Kinga G. Blecharz, Josephin Wagner, Lars Winkler, Ulf Schneider, Peter Vajkoczy, Mikio Furuse, Lydia Gabbert, Christina Dilling, Dmitri Sisario, Vladimir Soukhoroukov, Malgorzata Burek, S. Guérit, E. Fidan, K. Devraj, C. J. Czupalla, J. Macas, S. Thom, K. H. Plate, H. Gerhardt, S. Liebner, András Harazin, Alexandra Bocsik, Judit Váradi, Ferenc Fenyvesi, Vilmos Tubak, Miklós Vecsernyés, Hans Christian Helms, Helle Sønderby Waagepetersen, Carsten Uhd Nielsen, Birger Brodin, Zsófia Hoyk, Melinda E. Tóth, Nikolett Lénárt, Brigitta Dukay, Ágnes Kittel, Judit Vígh, Szilvia Veszelka, Fruzsina Walter, Ágnes Zvara, László Puskás, Miklós Sántha, Sabrina Engelhardt, Omolara O. Ogunshola, Anna Huber, Alexander Reitner, Samar Osmen, Kathrin Hahn, Neli Bounzina, Anna Gerhartl, Anna Schönegger, Hannes Steinkellner, Franco Laccone, Winfried Neuhaus, Natalie Hudson, Lucia Celkova, Anne Iltzsche, Svetlana Drndarski, David J Begley, Mette Mathiesen Janiurek, Krzysztof Kucharz, Christina Christoffersen, Lars Bo Nielsen, Martin Lauritzen, Rebecca H Johnson, Dan T Kho, Simon J O’Carroll, Catherine E Angel, E. Scott Graham, Jennifer Pereira, Christina Simoglou Karali, Vinton Cheng, Niloufar Zarghami, Manuel Sarmiento Soto, Yvonne Couch, Daniel C. Anthony, Nicola R. Sibson, John Kealy, Richard F. Keep, Lisa J. Routhe, Jianming Xiang, Hong Ye, Ya Hua, Torben Moos, Guohua Xi, M. Kristensen, A. Bach, K. Strømgaard, Nikolay Kutuzov, Melissa A. Lopes-Pinheiro, Jamie Lim, Alwin Kamermans, Jack van Horssen, Wendy W.J. Unger, Ruud Fontijn, Helga E. de Vries, Petra Majerova, Ralph M. Garruto, Luca Marchetti, David Francisco, Isabelle Gruber, Ruth Lyck, Mária Mészáros, Gergő Porkoláb, Lóránd Kiss, Ana-Maria Pilbat, Zsolt Török, Zsolt Bozsó, Lívia Fülöp, Alena Michalicova, Jaroslav Galba, Sandra Mihaljevic, Michal Novak, Andrej Kovac, Yoichi Morofuji, Takashi Fujimoto, Daisuke Watanabe, Shinsuke Nakagawa, Kenta Ujifuku, Nobutaka Horie, Tsuyoshi Izumo, Takeo Anda, Takayuki Matsuo, Fang Niu, Shilpa Buch, Ádám Nyúl-Tóth, Mihály Kozma, Péter Nagyőszi, Krisztina Nagy, Csilla Fazakas, János Haskó, Kinga Molnár, Attila E. Farkas, Péter Galajda, Imola Wilhelm, István A. Krizbai, Eoin Kelly, Eugene Wallace, Chris Greene, Stephanie Hughes, John Kealy, Niamh Doyle, Marian M. Humphries, Gerald A. Grant, Alon Friedman, Ronel Veksler, Michael G. Molloy, James F. Meaney, Niall Pender, Colin P. Doherty, Minseon Park, Arkadiusz Liskiewicz, Marta Przybyla, Daniela Kasprowska-Liśkiewicz, Marta Nowacka-Chmielewska, Andrzej Malecki, Ana Pombero, Raquel Garcia-Lopez, Marta Martinez-Morga, Salvador Martinez, Ofer Prager, Lyna Solomon-Kamintsky, Karl Schoknecht, Guy Bar-Klein, Dan Milikovsky, Udi Vazana, Dror Rosenbach, Richard Kovács, Alon Friedman, Zsolt Radak, Sabela Rodríguez-Lorenzo, Remy Bruggmann, Gijs Kooij, Helga E de Vries, Semyachkina-Glushkovskaya Oxana, Bragin Denis, Vodovozova Elena, Alekseeva Anna, Salmina Alla, Salmin Vladimir, Morgun Andrey, Malinovskaya Nataliya, Khilazheva Elena, Boytsova Elizaveta, Shirokov Alexander, Navolokin Nikita, Bucharskaya Alla, Yang Yirong, Abdurashitov Arkady, Gekalyuk Artem, Ulanova Mariya, Shushunova Anastasia, Bodrova Madina, Sagatova Artem, Khorovodov Alexander, Shareef Ali Esmat, Pavlov Valery, Tuchin Artem, Kurths Jürgen, Marcelle Silva de Abreu, Ana C. Calpena, Marta Espina, Maria Luisa García, Ignacio A. Romero, David Male, Steffen Storck, Anika Hartz, Jens Pahnke, Claus U. Surma, M. Surma, Z. Giżejewski, H. Zieliński, Aleksandra Szczepkowska, Marta Kowalewska, Agata Krawczynska, Andrzej P. Herman, Janina Skipor, Nicole Kachappilly, Mike Veenstra, Rosiris Leon Rivera, Dionna W. Williams, Susan Morgello, Joan W. Berman, Ursula Wyneken, Luis Federico Batiz, Arzu Temizyürek, Rouhollah Khodadust, Mutlu Küçük, Candan Gürses, Serkan Emik, Magdalena Zielińska, Marta Obara-Michlewska, Krzysztof Milewski, Edyta Skonieczna, Inez Fręśko, Edward A. Neuwelt, Ana Raquel Santa Maria, Ana Rita Bras, Dóra Lipka, Sándor Valkai, András Kincses, András Dér, Maria A. Deli

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