CYP26B1 AND ITS IMPLICATIONS IN LYMPHANGIOGENESIS: LITERATURE REVIEW AND STUDY OF RARE VARIANTS IN TWO FAMILIES von Ricci, M., Serrani, R., Amato, B., Compagna, R., Veselenyiova, D., Kenanoglu, S., Kurti, D., Baglivo, M., Krajcovic, Miggiano, G. A. D., Aquilanti, B., Matera, G., Velluti, V., Gagliardi, L., Dundar, Ni, Basha, S. H., Bertelli, M.

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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (vol 144, pg 1422, 2021) von Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Muller, Juliane S., Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M., Alfares, Ahmed A., Zhu, Changlian, Meszarosova, Anna Uhrova, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R., Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T., Strom, Tim M., De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P., Portier, Ruben, Bergmann, Carsten, Firouzabadi, Saghar Ghasemi, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A., Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair T., Wood, Nick W., Mau-Them, Frederic Tran, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laetitia, Schmitt, Emmanuelle, Lacaze, Elodie, Kuepper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J. H., Grand, Katheryn, Graham, John M., Lewis, Richard A., Millan, Francisca, Duman, Ozguer, Dundar, Nihal Olgac, Uyanik, Goekhan, Schoels, Ludger, Nuernberg, Peter, Nuernberg, Gudrun, Catala-Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Boucanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S., Shamseldin, Hanan, Al Tala, Saeed, Varaghchi, Jamileh Rezazadeh, Najafi, Maryam, Deschner, Selina, Glaeser, Dieter, Huettel, Wolfgang, Kruer, Michael C., Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Zuechner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schuele, Rebecca, Horvath, Rita

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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia von Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Muller, Juliane S., Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M., Alfares, Ahmed A., Zhu, Changlian, Meszarosova, Anna Uhrova, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R., Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T., Strom, Tim M., De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P., Portier, Ruben, Bergmann, Carsten, Firouzabadi, Saghar Ghasemi, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A., Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W., Mau-Them, Frederic Tran, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laetitia, Schmitt, Emmanuelle, Lacaze, Elodie, Kuepper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J. H., Grand, Katheryn, Graham, John M., Lewis, Richard A., Millan, Francisca, Duman, Ozgur, Dundar, Nihal, Uyanik, Gokhan, Schols, Ludger, Nuernberg, Peter, Nuernberg, Gudrun, Bordes, Andrea Catala, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Boucanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S., Shamseldin, Hanan, Al Tala, Saeed, Varaghchi, Jamileh Rezazadeh, Najafi, Maryam, Deschner, Selina, Glaeser, Dieter, Huettel, Wolfgang, Kruer, Michael C., Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Zuchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schuele, Rebecca, Horvath, Rita

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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia von Wiessner, M, Maroofian, R, Ni, M-Y, Pedroni, A, Müller, JS, Beetz, C, Santorelli, FM, Alfares, AA, Zhu, C, Alehabib, E, Bakhtiari, S, Janecke, AR, Otero, MG, Chen, JYH, Peterson, JT, Strom, TM, De Jonghe, P, Deconinck, T, De Ridder, W, De Winter, J, Ricca, I, Alfadhel, M, van de Warrenburg, BP, Portier, R, Bergmann, C, Ghasemi Firouzabadi, S, Jin, SC, Bilguvar, K, Hamed, S, Abdelhameed, M, Maqbool, S, Rahman, F, Anwar, N, Carmichael, J, Pagnamenta, A, Wood, NW, Tran Mau-Them, F, Haack, T, Genomics England Research Consortium, PREPARE network, Di Rocco, M, Ceccherini, I, Iacomino, M, Zara, F, Salpietro, V, Scala, M, Rusmini, M, Xu, Y, Wang, Y, Suzuki, Y, Koh, K, Nan, H, Ishiura, H, Tsuji, S, Lambert, L, Schmitt, E, Lacaze, E, Küpper, H, Dredge, D, Skraban, C, Goldstein, A, Willis, MJH, Grand, K, Graham, JM, Lewis, RA, Millan, F, Duman, Ö, Dündar, N, Uyanik, G, Schöls, L, Nürnberg, P, Nürnberg, G, Seeman, P, Kuchar, M, Darvish, H, Rebelo, A, Bouçanova, F, Medard, J-J, Chrast, R, Auer-Grumbach, M, Alkuraya, FS, Shamseldin, H, Al Tala, S, Rezazadeh Varaghchi, J, Najafi, M, Deschner, S, Gläser, D, Hüttel, W, Kruer, MC, Takiyama, Y, Züchner, S, Baets, J, Synofzik, M, Schüle, R, Horvath, R, Houlden, H, Bartesaghi, L, Lee, H-J, Ampatzis, K, Pierson, TM, Senderek, J

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