المؤلفون: Früh, Simon, Boudkkazi, Sami, Koppensteiner, Peter, Sereikaite, Vita, Chen, Li-Yuan, Fernandez-Fernandez, Diego, Rem, Pascal, Ulrich, Daniel, Schwenk, Jochen, Chen, Ziyang, Le Monnier, Elodie, Fritzius, Thorsten, Innocenti, Sabrina, Besseyrias, Valérie, Trovò, Luca, Stawarski, Michal, Argilli, Emanuela, Sherr, Elliott, van Bon, Bregje, Kamsteeg, Erik-Jan, Iascone, Maria, Pilotta, Alba, Cutrì, Maria, Azamian, Mahshid, Hernández-García, Andrés, Lalani, Seema, Rosenfeld, Jill, Zhao, Xiaonan, Vogel, Tiphanie, Ona, Herda, Scott, Daryl, Scheiffele, Peter, Strømgaard, Kristian, Tafti, Mehdi, Gassmann, Martin, Fakler, Bernd, Shigemoto, Ryuichi, Bettler, Bernhard

المصدر: Science Advances. 10(28)

مصطلحات موضوعية: Animals, Female, Humans, Male, Mice, Alleles, Epilepsy, Loss of Function Mutation, Mice, Knockout, Neurodevelopmental Disorders, Neuronal Plasticity, Neurons, Neurotransmitter Agents, Synapses, Synaptic Transmission, Cell Adhesion Molecules

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/82d7f1n3
https://escholarship.org/content/qt82d7f1n3/qt82d7f1n3.pdf

المؤلفون: Schobers, Gaby^{Aff1, Aff2}, Derks, Ronny, den Ouden, Amber, Swinkels, Hilde, van Reeuwijk, Jeroen^{Aff1, Aff2}, Bosgoed, Ermanno, Lugtenberg, Dorien, Sun, Su Ming, Corominas Galbany, Jordi^{Aff1, Aff2}, Weiss, Marjan, Blok, Marinus J., Olde Keizer, Richelle A. C. M.^{Aff1, Aff2}, Hofste, Tom, Hellebrekers, Debby, de Leeuw, Nicole, Stegmann, Alexander, Kamsteeg, Erik-Jan, Paulussen, Aimee D. C., Ligtenberg, Marjolijn J. L.^{Aff1, Aff2}, Bradley, Xiangqun Zheng, Peden, John, Gutierrez, Alejandra, Pullen, Adam, Payne, Tom, Gilissen, Christian^{Aff1, Aff2}, van den Wijngaard, Arthur, Brunner, Han G.^{Aff1, Aff2, Aff3}, Nelen, Marcel, Yntema, Helger G.^{Aff1, Aff2}, Vissers, Lisenka E. L. M.^{Aff1, Aff2, IDs1307302401301y_cor30}

المصدر: Genome Medicine. 16(1)

المؤلفون: Töpf, Ana^{Aff1, IDs41588023016510_cor1}, Cox, Dan, Zaharieva, Irina T., Di Leo, Valeria^{Aff1, Aff3}, Sarparanta, Jaakko^{Aff4, Aff5}, Jonson, Per Harald^{Aff4, Aff5}, Sealy, Ian M.^{Aff6, Aff7}, Smolnikov, Andrei, White, Richard J.^{Aff6, Aff7}, Vihola, Anna^{Aff4, Aff5, Aff9}, Savarese, Marco^{Aff4, Aff5}, Merteroglu, Munise^{Aff6, Aff10}, Wali, Neha, Laricchia, Kristen M.^{Aff12, Aff13}, Venturini, Cristina, Vroling, Bas, Stenton, Sarah L.^{Aff12, Aff16}, Cummings, Beryl B., Harris, Elizabeth^{Aff1, Aff17}, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M., Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valerie, Beggs, Alan H., Bodi, Istvan, Bommireddipalli, Shobhana, Bönnemann, Carsten G., Cairns, Anita, Chiew, Mei-Ting, Claeys, Kristl G.^{Aff27, Aff28}, Cooper, Sandra T., Davis, Mark R., Donkervoort, Sandra, Erasmus, Corrie E., Fassad, Mahmoud R.^{Aff30, Aff31}, Genetti, Casie A., Grosmann, Carla, Jungbluth, Heinz^{Aff33, Aff34}, Kamsteeg, Erik-Jan, Lornage, Xavière, Löscher, Wolfgang N., Malfatti, Edoardo, Manzur, Adnan, Martí, Pilar^{Aff38, Aff39}, Mongini, Tiziana E., Muelas, Nuria^{Aff38, Aff39, Aff41, Aff42}, Nishikawa, Atsuko, O’Donnell-Luria, Anne^{Aff12, Aff16}, Ogonuki, Narumi, O’Grady, Gina L., O’Heir, Emily, Paquay, Stéphanie, Phadke, Rahul, Pletcher, Beth A., Romero, Norma B., Schouten, Meyke, Shah, Snehal, Smuts, Izelle, Sznajer, Yves, Tasca, Giorgio, Taylor, Robert W.^{Aff30, Aff31}, Tuite, Allysa, Van den Bergh, Peter, VanNoy, Grace, Voermans, Nicol C., Wanschitz, Julia V., Wraige, Elizabeth, Yoshimura, Kimihiko, Oates, Emily C., Nakagawa, Osamu, Nishino, Ichizo, Laporte, Jocelyn, Vilchez, Juan J.^{Aff38, Aff39}, MacArthur, Daniel G.^{Aff12, Aff56, Aff57}, Sarkozy, Anna, Cordell, Heather J., Udd, Bjarne^{Aff4, Aff5, Aff9}, Busch-Nentwich, Elisabeth M.^{Aff6, Aff7}, Muntoni, Francesco^{Aff2, Aff59}, Straub, Volker^{Aff1, IDs41588023016510_cor85}

المصدر: Nature Genetics. 56(3):395-407

المؤلفون: de Boer, Eva M. J., de Vries, Balint S., Pennings, Maartje, Kamsteeg, Erik-Jan, Veldink, Jan H., van den Berg, Leonard H., van Es, Michael A.^{Aff1, IDs00415023117467_cor7}

المصدر: Journal of Neurology. 270(8):3970-3980

المؤلفون: Steyaert, Wouter^{Aff1, Aff2}, Haer-Wigman, Lonneke, Pfundt, Rolph, Hellebrekers, Debby, Steehouwer, Marloes, Hampstead, Juliet, de Boer, Elke^{Aff1, Aff4}, Stegmann, Alexander, Yntema, Helger, Kamsteeg, Erik-Jan, Brunner, Han^{Aff1, Aff3}, Hoischen, Alexander^{Aff1, Aff2, Aff5}, Gilissen, Christian^{Aff1, Aff2, IDs41467023425319_cor13}

المصدر: Nature Communications. 14(1)

المؤلفون: Wijngaard, Robin^{Aff1, Aff2}, Demidov, German, O’Gorman, Luke, Corominas-Galbany, Jordi, Yaldiz, Burcu, Steyaert, Wouter^{Aff1, Aff4}, de Boer, Elke^{Aff1, Aff2}, Vissers, Lisenka E. L. M.^{Aff1, Aff2}, Kamsteeg, Erik-Jan^{Aff1, Aff2}, Pfundt, Rolph, Swinkels, Hilde, den Ouden, Amber, te Paske, Iris B. A. W.^{Aff1, Aff4}, de Voer, Richarda M.^{Aff1, Aff4}, Faivre, Laurence, Denommé-Pichon, Anne-Sophie^{Aff6, Aff7}, Duffourd, Yannis^{Aff6, Aff7}, Vitobello, Antonio^{Aff6, Aff7}, Chevarin, Martin^{Aff6, Aff7}, Straub, Volker, Töpf, Ana, van der Kooi, Anneke J., Magrinelli, Francesca, Rocca, Clarissa^{Aff11, Aff12}, Hanna, Michael G., Vandrovcova, Jana, Ossowski, Stephan, Laurie, Steven, Gilissen, Christian^{Aff1, Aff4, IDs41431023014929_cor30}

المصدر: European Journal of Human Genetics. 32(2):248-248

المؤلفون: Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, 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, Ghasemi Firouzabadi, Saghar, 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, Tran Mau-Them, Frederic, 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, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary JH, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita

المصدر: Brain. 144(5)

مصطلحات موضوعية: Neurosciences, Neurodegenerative, Genetics, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Female, Humans, Male, Mice, Mutation, Oxygenases, Pedigree, Rats, Spastic Paraplegia, Hereditary, Zebrafish, hereditary spastic paraplegia, HSP, autosomal recessive, mitochondrial disorder, HPDL, Genomics England Research Consortium, PREPARE network, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3zq3c14v

المؤلفون: Bulthuis, Elianne P., Adjobo-Hermans, Merel J.W., de Potter, Bastiaan, Hoogstraten, Saskia, Wezendonk, Lisanne H.T., Tutakhel, Omar A.Z., Wintjes, Liesbeth T., van den Heuvel, Bert, Willems, Peter H.G.M., Kamsteeg, Erik-Jan, Gozalbo, M. Estela Rubio, Sallevelt, Suzanne C.E.H., Koudijs, Suzanne M., Nicolai, Joost, de Bie, Charlotte I., Hoogendijk, Jessica E., Koopman, Werner J.H., Rodenburg, Richard J.

المصدر: In BBA - Molecular Basis of Disease December 2023 1869(8)

المؤلفون: Ghorbani, Fatemeh, de Boer-Bergsma, Jelkje, Verschuuren-Bemelmans, Corien C.^{Aff1, Aff7}, Pennings, Maartje, de Boer, Eddy N., Kremer, Berry^{Aff3, Aff7}, Vanhoutte, Els K., de Vries, Jeroen J.^{Aff3, Aff7}, van de Berg, Raymond, Kamsteeg, Erik-Jan, van Diemen, Cleo C., Westers, Helga, van de Warrenburg, Bart P., Verbeek, Dineke S.^{Aff1, Aff7, IDs00415022112759_cor14}

المصدر: Journal of Neurology. 269(11):6086-6093

المؤلفون: Ågren, Richard, Geerdink, Niels, Brunner, Han G., Paucar, Martin, Kamsteeg, Erik-Jan, Sahlholm, Kristoffer

المصدر: International Journal of Molecular Sciences. 24(13)

مصطلحات موضوعية: electrophysiology, episodic ataxia, mild developmental delay, rare variants, spinocerebellar ataxia type 19/22, voltage sensor, voltage-gated potassium channel D3

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-212425
https://doi.org/10.3390/ijms241310924
https://umu.diva-portal.org/smash/get/diva2:1784578/FULLTEXT01.pdf