Treffer 1 - 20 von 168 für Suche 'Kriouile, A.', Suchdauer: 1,03s Treffer weiter einschränken
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    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders von Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G., Santiago-Sim, Teresa, Person, Richard E., Cho, Megan T., Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A., Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M., Jaeger, Bregje, Schneider, Amy L., Boysen, Katja, Muir, Alison M., Myers, Candace T., Gavrilova, Ralitza H., Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W., Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N., De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C., Scheffer, Ingrid E., Clayton-Smith, Jill, Macaya, Alfons, Rothman, James E., Eichler, Evan E., Kullmann, Dimitri M., Houlden, Henry

    Veröffentlicht in Nature communications

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  2. 2

    Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment von 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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  3. 3

    PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation von Chelban, Viorica, Wilson, Matthew P., Warman Chardon, Jodi, Vandrovcova, Jana, Zamba‐Papanicolaou, Eleni, Pope, Simon, Conte, Maria R., Abis, Giancarlo, Liu, Yo‐Tsen, Tribollet, Eloise, Haridy, Nourelhoda A., Botía, Juan A., Ryten, Mina, Nicolaou, Paschalis, Minaidou, Anna, Kernohan, Kristin D., Eaton, Alison, Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary M., Foiani, Martha, Zetterberg, Henrik, Heales, Simon J. R., Rothman, James E., Clayton, Peter T., Houlden, Henry, Kriouile, Yamna, Aguennouz, Mhammed, Groppa, Stanislav, Marinova Karashova, Blagovesta, Van Maldergem, Lionel, 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, Pineda‐Marfa, Mercedes, Ferrari, Michel D., van den Maagdenberg, Arn M J M, Verrotti, Alberto, Marseglia, Giangluigi, García‐Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Boles, Richard, Giunti, Paola, Chelban, Viorica, Salpietro, Vincenzo, Efthymiou, Stephanie, Kullmann, Dimitri, Kaiyrzhanov, Rauan, Sullivan, Roisin, Khan, Alaa Matooq, Yau, Wai Yan, Papanicolaou, Eleni Zamba, Maqbool, Shazia, Rana, Nuzhat Noureen, Atawneh, Osama, Shaikh, Farooq, Koutsis, George, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Borgione, Eugenia, Stojkovic, Tanya, Torti, Erin, Zollo, Massimi, Dauvilliers, Yves A., Rizig, Mie, Okubadejo, Njideka U., Ojo, Oluwadamilola O., Wahab, Kolawole, Bello, Abiodun H., Obiabo, Yahaya, Nwazor, Ernest, Iyagba, Alagoma, Taiwo, Lolade, Komolafe, Morenikeji, Oguntunde, Olapeju, Senkevich, Konstantin, Haridy, Nourelhoda, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Isrofilov, Maksud, Khachatryan, Samson, Silvestri, Gabriella, Bourinaris, Thomas, Fidani, Liana

    Veröffentlicht in Annals of neurology

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  4. 4

    Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome von Salpietro, Vincenzo, Maroofian, Reza, Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Aughey, Gabriel N., Al Mutairi, Fuad, Accogli, Andrea, Zara, Federico, Tariq, Huma, Rehman, Khalil Ur, Abd Elmaksoud, Marwa, El Said, Huda G., Al Shalan, Maha, Khang, Rin, Elbendary, Hasnaa M., Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Ververi, Athina, Sourmpi, Mara, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Hannah, Michael G., Bertini, Enrico, Aguennouz, Mhammed, Groppa, Stanislav, Kathom, Hadil, Tincheva, Radka, Verrotti, Alberto, Macaya, Alfons, Garavaglia, Barbara, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Z., Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Rana, Nuzhat N., Atawneh, Osama, Zuccotti, Gian V., Marseglia, Gian L., Shaikh, Farooq, Corsello, Giovanni, Mangano, Salvatore, Koutsis, George, Scuderi, Carmela, Ferrara, Pietro, Zollo, Massimo, Berni-Canani, Roberto, Sisto, Antonio, Strano, Federica, Di Francesco, Ludovica, Salayev, Kamran, Xiromerisiou, Georgia, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Di Rosa, Gabriella, Pettoello-Mantovani, Massimo, Tazir, Meriem, Farello, Giovanni, Delvecchio, Maurizio, Di-Donato, Giulio, Obeid, Makram, Saadi, Nebal W., Maccarone, Rita, Kara, Majdi, Karimiani, Ehsan G., Seri, Marco, Di-Falco, Giovanna, Barrano, Giuseppe, Operto, Francesca F., Valenzise, Mariella, Matricardi, Sara, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, De Filippo, Maria, Licari, Amelia, Trebbi, Edoardo, Romano, Ferdinando, Heimer, Gali, Al-Khawaja, Issam, Al-Mutairi, Fuad, Shashkin, Chingiz, Koneyev, Kairgali, Pagnamenta, Alistair T., Corsello, Antonio, Dallapiccola, Bruno, Alobeid, Eman, Mankad, Kshitij, Ghayoor-Karimiani, Ehsan, Chung, Wendy K., Green, Rachel, Alkuraya, Fowzan S., Jepson, James E.C., Houlden, Henry


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  5. 5

    A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease von Calì, Elisa, Lin, Sheng-Jia, El Chehadeh, Salima, Chaabouni, Myriam, Mankad, Kshitij, Galanaki, Evangelia, Sudhakar, Sniya, Athanasiou-Fragkouli, Alkyoni, Çelik, Tamer, Narlı, Nejat, Bianca, Sebastiano, El Khorassani, Mohamed, Groppa, Stanislav, Karashova, Blagovesta Marinova, Di Rosa, Gabriella, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Veggiotti, Pierangelo, Savasta, Salvatore, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Compagnoni, Chiara, Piccirilli, Alessandra, Vikelis, Michail, Chelban, Viorica, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Ibrahim, Shahnaz, Kirmani, Salman, Atawneh, Osama, Lim, Shen-Yang, Shaikh, Farooq, Scardamaglia, Annarita, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Zollo, Massimo, Heimer, Gali, Alkuraya, Fowzan S., Guliyeva, Ulviyya, Salayev, Kamran, Fiorillo, Chiara, Rissotto, Federico, Gagliano, Antonella, Chimenz, Roberto, Gitto, Eloisa, Cuppari, Caterina, Magrinelli, Francesca, Zagaroli, Luca, Caloisi, Claudia, Fabiano, Cecilia, Bottone, Gabriella, Di Fabio, Sandra, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Zaki, Maha S., Kara, Majdi, Specchio, Nicola, Karimiani, Ehsan G., Salih, Ahmed M., David, Emanuele, Curró, Riccardo, Iezzi, Maria Laura, Iapadre, Giulia, Brancati, Francesco, Di Falco, Giovanna, Operto, Francesca F., Valenzise, Mariella, Della Rocca, Ylenia, Alesse, Edoardo, Pironti, Erica, Amore, Greta, Ceravolo, Giorgia, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, Parisi, Pasquale, Genomics, Queen Square, Andrea Accogli, Petree, Cassidy, Huang, Kevin, Monastiri, Kamel, Nardello, Rosaria, Ognibene, Marzia, Ruggieri, Martino, Zara, Federico, Abi Warde, Marie Therese, Gerard, Benedicte, Beetz, Christian, Fortuna, Sara, Soler, Miguel, Varshney, Gaurav, Salpietro, Vincenzo

    Veröffentlicht in Genetics in medicine

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