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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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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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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The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS) by Jones, Simon A., Parini, Rossella, Harmatz, Paul, Giugliani, Roberto, Fang, Juanzhi, Mendelsohn, Nancy J.

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Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: A perspective... by Burton, Barbara K., Whiteman, David A.H.

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Thin MoO(3) films for sensor applications by Georgieva, V, Stefanov, P, Spassov, L, Raicheva, Z, Atanassov, M, Tincheva, T, Manolov, E, Vergov, L

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Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II — data from the Hunter Outcome Survey by Burton, Barbara K., Guffon, Nathalie, Roberts, Jane, van der Ploeg, Ans T., Jones, Simon A.

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Political language gaffes and the importance of Hearer’s meaning by Tincheva, Nelly

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‘Narrative structure’, ‘rhetorical structure’, ‘text structure’: A conceptual complex meets text- and discourse‑world profiling shifts by Tincheva, Nelly

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Good Brexit, Bad Brexit: Evaluation Through Metaphoric Conceptualizations in British Media by Tincheva, Nelly

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Brexit means: UK vs. continental online-media users and English-language metaphoric conceptualizations by Tincheva, Nelly

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Good Brexit, Bad Brexit: Evaluation Through Metaphoric Conceptualizations in British Media by Nelly Tincheva

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Facebook Posts as Performatives in Bulgarian Political Life: A Sociolinguistic Investigation by Tincheva, Nelly

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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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IGHV Mutational Status in a Cohort of Bulgarian CLL Patients: High Unmutated CLL Prevalence in North-East Bulgaria by Yosifova, A, Micheva, I, Donchev, M, Tincheva, S, Ormandjiev, S, Genova, J, Pavlova, Z, Todorova, A

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Prenatal diagnosis of severe structural congenital malformations in Europe by Garne, E., Loane, M., Dolk, H., De Vigan, C., Scarano, G., Tucker, D., Stoll, C., Gener, B., Pierini, A., Nelen, V., Rösch, C., Gillerot, Y., Feijoo, M., Tincheva, R., Queisser‐Luft, A., Addor, M.‐C., Mosquera, C., Gatt, M., Barisic, I.

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Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data by Istaiti, Majdolen, Revel‐Vilk, Shoshana, Becker‐Cohen, Michal, Dinur, Tama, Ramaswami, Uma, Castillo‐Garcia, Daniela, Ceron‐Rodriguez, Magdalena, Chan, Alicia, Rodic, Predrag, Tincheva, Radka Stefanova, Al‐Hertani, Walla, Lee, Beom Hee, Yang, Chia‐Feng, Kiec‐Wilk, Beata, Fiumara, Agata, Rubio, Barbara, Zimran, Ari

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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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A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier by Todorova, A., Litvinenko, I., Todorov, T., Tincheva, R., Avdjieva, D., Tincheva, S., Mitev, V.

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