Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic by Dimitrova-Mladenova, Mihaela S., MD, Stefanova, Elisaveta M., MD, Glushkova, Maria, MsC, Todorova, Albena P., PhD, Todorov, Tihomir, PhD, Konstantinova, Maia M., MD, Kazakova, Krasimira, MD, Tincheva, Radka S., MD

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DIA-KARLOTTA (Kids + Adolescents Research Learning On Tablet Teaching Aachen): A Serious Game for Diabetes by Pappa, Angeliki, Tincheva, Maria, Menze, Lukas, Bell, Laura, Lemos, Martin

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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment by Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Salpietro, Vincenzo, Efthymiou, Stephanie, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Di Rosa, Gabriella, Pironti, Erica, Goraya, Jatinder S., Sultan, Tipu, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa’, Mercedes, Munell, Francina, Macaya, Alfons, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G., Rothman, James E., Kullmann, Dimitri M., Houlden, Henry, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Macaya, Alfons, Kullmann, Dimitri M., Rothman, James E., Krishnakumar, Shyam S., Houlden, Henry

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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification by Schottlaender, Lucia V., Abeti, Rosella, Jaunmuktane, Zane, Macmillan, Carol, Chelban, Viorica, O’Callaghan, Benjamin, McKinley, John, Maroofian, Reza, Efthymiou, Stephanie, Athanasiou-Fragkouli, Alkyoni, Forbes, Raeburn, Soutar, Marc P.M., Livingston, John H., Kalmar, Bernardett, Swayne, Orlando, Hotton, Gary, Groppa, Stanislav, Karashova, Blagovesta Marinova, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda-Marfa, Mercedes, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García-Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Sanchez, Benigno Monteagudo, Boles, Richard, Papacostas, Savvas, Vikelis, Michail, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat Noureen, Atawneh, Osama, Koutsis, George, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Zollo, Massimi, Heimer, Gali, Dauvilliers, Yves A., Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Sherifa, Hamed, Pittman, Alan, Mendes de Oliveira, João Ricardo, de Grandis, Maria, Richard-Loendt, Angela, Launchbury, Francesca, Althonayan, Juri, McDonnell, Gavin, Carr, Aisling, Khan, Suliman, Beetz, Christian, Bisgin, Atil, Tug Bozdogan, Sevcan, Begtrup, Amber, Torti, Erin, Greensmith, Linda, Giunti, Paola, Morrison, Patrick J., Brandner, Sebastian, Aurrand-Lions, Michel, Houlden, Henry

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MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetrance by Atemin, Slavena, Todorov, Tihomir, Maver, Ales, Chamova, Teodora, Georgieva, Bilyana, Tincheva, Savina, Pacheva, Iliyana, Ivanov, Ivan, Taneva, Ani, Zlatareva, Dora, Tournev, Ivailo, Guergueltcheva, Velina, Gospodinova, Mariana, Chochkova, Lyubov, Peterlin, Borut, Mitev, Vanyo, Todorova, Albena

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Newborn screening in southeastern Europe by Groselj, Urh, Tansek, Mojca Zerjav, Smon, Andraz, Angelkova, Natalija, Anton, Dana, Baric, Ivo, Djordjevic, Maja, Grimci, Lindita, Ivanova, Maria, Kadam, Adil, Kotori, Vjosa Mulliqi, Maksic, Hajrija, Marginean, Oana, Margineanu, Otilia, Milijanovic, Olivera, Moldovanu, Florentina, Muresan, Mariana, Murko, Simona, Nanu, Michaela, Lampret, Barbka Repic, Samardzic, Mira, Sarnavka, Vladimir, Savov, Aleksei, Stojiljkovic, Maja, Suzic, Biljana, Tincheva, Radka, Tahirovic, Husref, Toromanovic, Alma, Usurelu, Natalia, Battelino, Tadej

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Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries by Zerjav Tansek, Mojca, Groselj, Urh, Angelkova, Natalija, Anton, Dana, Baric, Ivo, Djordjevic, Maja, Grimci, Lindita, Ivanova, Maria, Kadam, Adil, Kotori, Vjosa, Maksic, Hajrija, Marginean, Oana, Margineanu, Otilia, Miljanovic, Olivera, Moldovanu, Florentina, Muresan, Mariana, Nanu, Michaela, Samardzic, Mira, Sarnavka, Vladimir, Savov, Aleksei, Stojiljkovic, Maja, Suzic, Biljana, Tincheva, Radka, Tahirovic, Husref, Toromanovic, Alma, Usurelu, Natalia, Battelino, Tadej

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First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene by Tincheva, Savina, Todorov, Tihomir, Todorova, Albena, Georgieva, Ralica, Stamatov, Dimitar, Yordanova, Iglika, Kadiyska, Tanya, Georgieva, Bilyana, Bojidarova, Maria, Tacheva, Genoveva, Litvinenko, Ivan, Mitev, Vanyo

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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants by Neuray, Caroline, Maroofian, Reza, Scala, Marcello, Sultan, Tipu, Pai, Gurpur S, Mojarrad, Majid, Khashab, Heba El, deHoll, Leigh, Yue, Wyatt, Alsaif, Hessa S, Zanetti, Maria N, Bello, Oscar, Person, Richard, Eslahi, Atieh, Khazaei, Zaynab, Feizabadi, Masoumeh H, Efthymiou, Stephanie, El-Bassyouni, Hala T, Soliman, Doaa R, Tekes, Selahattin, Ozer, Leyla, Baltaci, Volkan, Khan, Suliman, Beetz, Christian, Amr, Khalda S, Salpietro, Vincenzo, Jamshidi, Yalda, Alkuraya, Fowzan S, Houlden, Henry

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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination by Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay B, Cortese, Andrea, Maddirevula, Sateesh, Alhashmi, Nadia, Wiethoff, Sarah, Ryten, Mina, Botia, Juan A, Provitera, Vincenzo, Schuelke, Markus, Vandrovcova, Jana, Walsh, Laurence, Torti, Erin, Iodice, Valeria, Najafi, Maryam, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Siquier-Pernet, Karine, Boddaert, Nathalie, De Lonlay, Pascale, Cantagrel, Vincent, Aguennouz, Mhammed, El Khorassani, Mohamed, Schmidts, Miriam, Alkuraya, Fowzan S, Edvardson, Simon, Nolano, Maria, Devaux, Jérôme, Houlden, Henry

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Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective by Pinto, Carolina, Sousa, Diana, Ghilas, Vladimir, Dardis, Andrea, Scarpa, Maurizio, Macedo, Maria Fatima

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The adipokines and inflammatory status in the era of pediatric obesity by Mărginean, Cristina Oana, Meliţ, Lorena Elena, Huțanu, Adina, Ghiga, Dana Valentina, Săsăran, Maria Oana

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Psychiatric phenotypes associated with hyperprolinemia: A systematic review by Namavar, Yasmin, Duineveld, Denise Joanne, Both, Geertje Ingena Angelique, Fiksinski, Ania Maria, Vorstman, Jacob Abraham Schrey, Verhoeven‐Duif, Nanda Margriet, Zinkstok, Janneke Rozemarijn

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A review of the clinical outcomes in idursulfase-treated and untreated Filipino patients with mucopolysaccharidosis type II: data from the local lysosomal storage disease registry by Racoma, Marie Julianne C, Calibag, Maria Kristina Karizza B, Cordero, Cynthia P, Abacan, Mary Ann R, Chiong, Mary Anne D

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Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability by Scuderi, Carmela, Santa Paola, Sandro, Lo Giudice, Mariangela, Di Blasi, Francesco Domenico, Giusto, Stefania, Di Vita, Giuseppa, Pettinato, Rosa, Vitello, Girolamo Aurelio, Romano, Corrado, Buono, Serafino, Salpietro, Vincenzo, Houlden, Henry, Borgione, Eugenia

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Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes by Lal, Dennis, Reinthaler, Eva M, Dejanovic, Borislav, May, Patrick, Thiele, Holger, Lehesjoki, Anna-Elina, Schwarz, Günter, Riesch, Erik, Ikram, M Arfan, van Duijn, Cornelia M, Uitterlinden, Andre G, Hofman, Albert, Steinböck, Hannelore, Gruber-Sedlmayr, Ursula, Neophytou, Birgit, Zara, Federico, Hahn, Andreas, Gormley, Padhraig, Becker, Felicitas, Weber, Yvonne G, Cilio, Maria Roberta, Kunz, Wolfram S, Krause, Roland, Zimprich, Fritz, Lemke, Johannes R, Nürnberg, Peter, Sander, Thomas, Lerche, Holger, Neubauer, Bernd A

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Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results by Giżewska, Maria, MacDonald, Anita, Bélanger-Quintana, Amaya, Burlina, Alberto, Cleary, Maureen, Coşkun, Turgay, Feillet, François, Muntau, Ania C., Trefz, Friedrich K., van Spronsen, Francjan J., Blau, Nenad

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Fetal sigmoid colon mesentery made visible by routine ultrasound in the first and second trimester of pregnancy by Wozniak, Slawomir, Zazga, Maria, Kurc-Darak, Bozena, Tomialowicz, Marek, Paulsen, Friedrich, Florjanski, Jerzy

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Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis by Tabolacci, Elisabetta, Pomponi, Maria Grazia, Remondini, Laura, Pietrobono, Roberta, Orteschi, Daniela, Nobile, Veronica, Pucci, Cecilia, Musto, Elisa, Pane, Marika, Mercuri, Eugenio M, Neri, Giovanni, Genuardi, Maurizio, Chiurazzi, Pietro, Zollino, Marcella

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Assessment of Pudding Formulations Using Lyophilized Apricot, Plum, and Plum–Apricot Powders: Texture, Bioactivity, and Sensory Quality by Popova, Aneta, Doykina, Pavlina, Mihaylova, Dasha, Dimitrova-Dimova, Maria

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