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: 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: Töpf, Ana, Cox, Dan, Zaharieva, Irina T., Di Leo, Valeria, Sarparanta, Jaakko, Jonson, Per Harald, Sealy, Ian M., Smolnikov, Andrei, White, Richard J., Vihola, Anna, Savarese, Marco, Merteroglu, Munise, Wali, Neha, Laricchia, Kristen M., Venturini, Cristina, Vroling, Bas, Stenton, Sarah L., Cummings, Beryl B., Harris, Elizabeth, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M., Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valérie, Beggs, Alan H., Bodi, Istvan, Bommireddipalli, Shobhana, Bönnemann, Carsten G., Cairns, Anita, Chiew, Mei-Ting, Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, Sandra, Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, Carla, Jungbluth, Heinz, Kamsteeg, Erik-Jan, Lornage, Xavière, Löscher, Wolfgang N., Malfatti, Edoardo, Manzur, Adnan, Martí, Pilar, Mongini, Tiziana E., Muelas, Nuria, Nishikawa, Atsuko, O’donnell-Luria, Anne, 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., 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., Macarthur, Daniel G., Sarkozy, Anna, Cordell, Heather J., Udd, Bjarne, Busch-Nentwich, Elisabeth M., Muntoni, Francesco, Straub, Volker

المساهمون: Newcastle University Newcastle, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), ANR-10-LABX-0030,INRT,Integrative Biology : Nuclear dynamics- Regenerative medicine - Translational medicine(2010), ANR-10-INBS-0009,France Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010), ANR-10-IDEX-0002,UNISTRA,Par-delà les frontières, l'Université de Strasbourg(2010), European Project: 305121,EC:FP7:HEALTH,FP7-HEALTH-2012-INNOVATION-1,NEUROMICS(2012), European Project: 779257,Solve-RD

المصدر: ISSN: 1061-4036.

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/grantAgreement/EC/FP7/305121/EU/Integrated European –omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases/NEUROMICS; info:eu-repo/grantAgreement//779257/EU/European Union's Horizon 2020 research and innovation program/Solve-RD

الاتاحة: https://hal.science/hal-04699537
https://hal.science/hal-04699537v1/document
https://hal.science/hal-04699537v1/file/islandora_171817.pdf
https://doi.org/10.1038/s41588-023-01651-0

المؤلفون: Demidov, German, Yaldiz, Burcu, Garcia-Pelaez, José, de Boer, Elke, Schuermans, Nika, Van de Vondel, Liedewei, Paramonov, Ida, Johansson, Lennart F., Musacchia, Francesco, Benetti, Elisa, Bullich, Gemma, Sablauskas, Karolis, Beltran, Sergi, Gilissen, Christian, Hoischen, Alexander, Ossowski, Stephan, de Voer, Richarda, Lohmann, Katja, Oliveira, Carla, Topf, Ana, Vissers, Lisenka E. L. M., SOLVE-RD consortium, Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Sturm, Marc, Park, Joohyun, Schütz, Leon, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kellner, Melanie, Resch, Baptist, Kolen, Ingrid, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Beijer, Danique, Heutink, Peter, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Boßelmann, Christian, Kegele, Josua, Lauerer-Braun, Robert, Lauxmann, Stephan, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ’t Hoen, Peter A. C., Steyaert, Wouter, Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Neveling, Kornelia, van der Sanden, Bart, Sagath, Lydia, Kleefstra, Tjitske, Brookes, Anthony J., Gibson, Spencer, Riaz, Umar, Warren, Greg, Nalagandla, Sai Anuhya, Wang, Yunze Patrick, Sukumaran, Deepthi, Abadijou, Sadegh, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Bruel, Ange-Line, Couturier, Victor, Gut, Ivo Glynne, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Codina, Anna Esteve, Dabad, Marc, Gut, Marta, Raineri, Emanuele, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lucano, Caterina, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Ryba, Lukáš, Lišková, Petra, Doležalová, Pavla, Krebsová, Alice, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Efthymiou, Stephanie, Morsy, Heba, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Bellampalli, Ravishankara, Moloney, Patrick, Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Perry, Luke, Pini, Veronica, Müller, Juliane, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, de Jonghe, Peter, De Ridder, Willem, Weckhuysen, Sarah, Stamberger, Hannah, Millevert, Charissa, Smal, Noor, Nigro, Vincenzo, Morleo, Manuela, Pinelli, Michele, Banfi, Sandro, Torella, Annalaura, Zeuli, Roberta, Zanobio, Mariateresa, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Barbosa-Matos, Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Ruvolo, David, van Gijn, Marielle, Abbott, Kristin M., Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Köhler, Sebastian, Metcalfe, Alison, Moore, Richard, Verloes, Alain, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, de Sainte Agathe, Jean-Madeleine, Jamra, Rami Abou, Abramowicz, Marc, Kiliçarslan, Özge Aksel, Allen, Nicholas, Javier Alonso García de la Rosa, Francisco, Balestrini, Simona, Balicza, Peter, Bartolomaeus, Tobias, Başak, Ayşe Nazl, Masó, Laura Batlle, Beeson, David, Benoit, Valerie, Benson, Katherine, Sánchez, Eva Bermejo, Bijlsma, Emilia K., Bogaert, Elke, Bourbouli, Mara, Boztug, Kaan, Brohée, Sylvain, Byrne, Susan, Garcia de Oteyza, Andrés Caballero, Capella, Gabriel, Carpancea, Evelina, Cavalleri, Gianpiero, Cazurro-Gutiérrez, Ana, Chinnery, Patrick F., Cilio, Maria-Roberta, Ciolfi, Andrea, Claeys, Kristl, Colobran, Roger, Cordts, Isabell, Cossins, Judith, Dahan, Karin, Dallapiccola, Bruno, Delanty, Norman, Depienne, Christel, Depondt, Chantal, Dermaut, Bart, Deschauer, Marcus, Desir, Julie, Destrée, Anne, Drakos, Minas, Duerinckx, Sarah, Estevez, Berta, Evangeliou, Athanasios, Fallerini, Chiara, Ferilli, Marco, Furini, Simone, Gagneur, Julien, Ghani, Hamidah, Greally, Marie, Grimbacher, Bodo, Guerrini, Renzo, Hackman, Peter, Haimel, Matthias, Bouveret, Eva Hammar, Hemelsoet, Dimitri, Herzog, Rebecca, Hoffer, Mariette J. V., Holinski-Feder, Elke, Horvath, Rita, Huibers, Manon, Iacomino, Michele, Johari, Mridul, Kapaki, Elisabeth, Karadurmus, Deniz, Karakaya, Mert, Kokosali, Evgenia, Korff, Christian, Krass, Leon, Lacombe, Didier, Laner, Andreas, Leavis, Helen, Lederer, Damien, Leitão, Elsa, Lochmüller, Hanns, Martín, Estrella López, Luknárová, Rebeka, Macaya, Alfons, Malaichamy, Sivasankar, Marcé-Grau, Anna, Delgado, Beatriz Martínez, Mary, Sandrine, Masclaux, Frédéric, Mathioudakis, Lambros, Maver, Ales, MAY, Patrick, Maystadt, Isabelle, Mei, Davide, Mertes, Christian, Meunier, Colombine, Molnar, Maria Judit, Monestier, Olivier, Moortgat, Stéphanie, Münchau, Alexander, Munell, Francina, Osorio, Andrés Nascimento, de Benito, Daniel Natera, Reghan, Mary O., Olimpio, Catarina, Parrini, Elena, Pauly, Martje, Pérez-Dueñas, Belén, Peterlin, Borut, Platzer, Konrad, Polavarapu, Kiran, Poppe, Bruce, De la Paz, Manuel Posada, Privitera, Flavia, Radio, Francesca Clementina, Ratnaike, Thiloka, Renieri, Alessandra, Riva, Antonella, Rooryck, Caroline, Roos, Andreas, Ruivenkamp, Claudia A. L., Rump, Andreas, Santen, Gijs W. E., Savarese, Marco, Scala, Marcello, Schon, Katherine, Schröck, Evelin, Scudieri, Paolo, Spilioti, Martha, Steinke-Lange, Verena, Striano, Pasquale, Sznajer, Yves, Tartaglia, Marco, Thompson, Rachel, Trimouille, Aurelien, Udd, Bjarne, Uva, Paolo, Valle, Laura, van der Veken, Lars, van Heurck, Roxane, van Montfrans, Joris, Van Nieuwenhove, Erika, Verdin, Hannah, Webb, David, Wirth, Brunhilde, Yépez, Vicente A., Zaganas, Ioannis, Zara, Federico, Zguro, Kristina, Laurie, Steven

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: npj Genomic Medicine, 9 (1) (2024-10-26)

مصطلحات موضوعية: CNVs, Exome sequencing, Rare diseases, Human health sciences, Life sciences, Genetics & genetic processes, Sciences de la santé humaine, Sciences du vivant, Génétique & processus génétiques

Relation: https://www.nature.com/articles/s41525-024-00436-6.pdf; urn:issn:2056-7944; https://orbilu.uni.lu/handle/10993/62319; info:hdl:10993/62319; https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf

الاتاحة: https://orbilu.uni.lu/handle/10993/62319
https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf
https://doi.org/10.1038/s41525-024-00436-6

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

المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS ; ISSN: 1018-4813 ; ISSN: 1476-5438

مصطلحات موضوعية: Medicine and Health Sciences, RETROTRANSPOSITION, GERMLINE

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/01J8QR1536B70F9XW5PN5ATNGE; https://biblio.ugent.be/publication/01J8QR1536B70F9XW5PN5ATNGE/file/01JAW4SV8ZAFNQD93A3X2T0NAS

الاتاحة: https://biblio.ugent.be/publication/01J8QR1536B70F9XW5PN5ATNGE
http://hdl.handle.net/1854/LU-01J8QR1536B70F9XW5PN5ATNGE
https://doi.org/10.1038/s41431-023-01478-7
https://biblio.ugent.be/publication/01J8QR1536B70F9XW5PN5ATNGE/file/01JAW4SV8ZAFNQD93A3X2T0NAS

المؤلفون: van Prooije, Teije H., Pennings, Maartje, Dorresteijn, Lucille, Gardeitchik, Thatjana, Odekerken, Vincent J.J., Oosterloo, Mayke, Pedersen, Annie, Verschuuren-Bemelmans, Corien C., Vrancken, Alexander, Kamsteeg, Erik Jan, van de Warrenburg, Bart P.C.

المصدر: van Prooije , T H , Pennings , M , Dorresteijn , L , Gardeitchik , T , Odekerken , V J J , Oosterloo , M , Pedersen , A , Verschuuren-Bemelmans , C C , Vrancken , A , Kamsteeg , E J & van de Warrenburg , B P C 2024 , ' A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder ' , Movement Disorders . https://doi.org/10.1002/mds.29912

مصطلحات موضوعية: ataxia, genetics

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/3353a257-a51e-4368-9fe1-783129f89f16
https://research.rug.nl/en/publications/3353a257-a51e-4368-9fe1-783129f89f16
https://doi.org/10.1002/mds.29912
https://pure.rug.nl/ws/files/1119231460/Movement_Disorders_-_2024_-_Prooije_-_A_New_Case_Series_Suggests_That_SCA48_ATX_STUB1_Is_Primarily_a_Monogenic_Disorder.pdf
http://www.scopus.com/inward/record.url?scp=85197712990&partnerID=8YFLogxK

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

المصدر: Schobers , G , Derks , R , den Ouden , A , Swinkels , H , van Reeuwijk , J , Bosgoed , E , Lugtenberg , D , Sun , S M , Corominas Galbany , J , Weiss , M , Blok , M J , Olde Keizer , R A C M , Hofste , T , Hellebrekers , D , de Leeuw , N , Stegmann , A , Kamsteeg , E-J , Paulussen , A D C , Ligtenberg , M J L , Bradley , X Z , Peden , J , ....

مصطلحات موضوعية: Genetic diagnostic laboratories, Genome sequencing, Germline variant detection, Impact modeling, Rare disease, Reducing workflow complexity, Humans, Rare Diseases/diagnosis genetics, Whole Genome Sequencing, Base Sequence, Chromosome Mapping, Exome Sequencing, High-Throughput Nucleotide Sequencing

Relation: https://cris.maastrichtuniversity.nl/en/publications/f219a7b3-13f3-42e8-bd8f-8a882201cc4e

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/f219a7b3-13f3-42e8-bd8f-8a882201cc4e
https://doi.org/10.1186/s13073-024-01301-y

المؤلفون: Möller, Birk, Becker, Lena-Luise, Saffari, Afshin, Afenjar, Alexandra, Coci, Emanuele G, Williamson, Rachel, Ward-Melver, Catherine, Gibaud, Marc, Sedlácková, Lucie, Laššuthová, Petra, Libá, Zuzana, Vlcková, Markéta, William, Nancy, Klee, Eric W, Gavrilova, Ralitza H, Lévy, Jonathan, Capri, Yline, Scavina, Mena, Körner, Robert Walter, Valuvullah, Zaheer, Weiß, Claudia, Möller, Greta Marit, Thiel, Moritz, Sinnema, Margje, Kamsteeg, Erik-Jan, Donkervoort, Sandra, Duboc, Veronique, Zaafrane-Khachnaoui, Khaoula, Elkhateeb, Nour, Selim, Laila, Margot, Henri, Marin, Victor, Beneteau, Claire, Isidor, Bertrand, Cogne, Benjamin, Keren, Boris, Küsters, Benno, Beggs, Alan H, Genetti, Casie A, Nicolai, Joost, Dötsch, Jörg, Koy, Anne, Bönnemann, Carsten G, von der Hagen, Maja, von Kleist-Retzow, Jürgen-Christoph, Voermans, Nicol, Jungbluth, Heinz, Dafsari, Hormos Salimi

المصدر: Möller , B , Becker , L-L , Saffari , A , Afenjar , A , Coci , E G , Williamson , R , Ward-Melver , C , Gibaud , M , Sedlácková , L , Laššuthová , P , Libá , Z , Vlcková , M , William , N , Klee , E W , Gavrilova , R H , Lévy , J , Capri , Y , Scavina , M , Körner , R W , Valuvullah , Z , Weiß , C , Möller , G M , Thiel , M , Sinnema , ....

مصطلحات موضوعية: autophagy, intracellular trafficking, neurodevelopmental disorders, viral immunity

Relation: https://cris.maastrichtuniversity.nl/en/publications/46f506eb-dc8e-469a-92e3-91640957b169

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/46f506eb-dc8e-469a-92e3-91640957b169
https://doi.org/10.1093/brain/awae183

المؤلفون: van der Sanden, Bart, Neveling, Kornelia, Pang, Andy Wing Chun, Shukor, Syukri, Gallagher, Michael D., Burke, Stephanie L., Kamsteeg, Erik‐Jan, Hastie, Alex, Hoischen, Alexander

المصدر: Current Protocols ; volume 4, issue 7 ; ISSN 2691-1299 2691-1299

الاتاحة: http://dx.doi.org/10.1002/cpz1.1094
https://currentprotocols.onlinelibrary.wiley.com/doi/pdf/10.1002/cpz1.1094

المؤلفون: Smeekens, Sanne P., Leferink, Maike., Yntema, Helger G., Kamsteeg, Erik‐Jan

المصدر: Prenatal Diagnosis ; volume 44, issue 11, page 1304-1309 ; ISSN 0197-3851 1097-0223

الاتاحة: http://dx.doi.org/10.1002/pd.6595
https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/pd.6595

المؤلفون: Marouane, Abderrahim, Neveling, Kornelia, Deden, A. Chantal, van den Heuvel, Simone, Zafeiropoulou, Dimitra, Castelein, Steven, van de Veerdonk, Frank, Koolen, David A., Simons, Annet, Rodenburg, Richard, Westra, Dineke, Mensenkamp, Arjen R., de Leeuw, Nicole, Ligtenberg, Marjolijn, Matthijsse, Rene, Pfundt, Rolph, Kamsteeg, Erik Jan, Brunner, Han G., Gilissen, Christian, Feenstra, Ilse, de Boode, Willem P., Yntema, Helger G., van Zelst-Stams, Wendy A. G., Nelen, Marcel, Vissers, Lisenka E. L. M.

المصدر: Frontiers in Genetics ; volume 14 ; ISSN 1664-8021

الاتاحة: http://dx.doi.org/10.3389/fgene.2023.1304520
https://www.frontiersin.org/articles/10.3389/fgene.2023.1304520/full

المؤلفون: van de Warrenburg, Bart P., Kamsteeg, Erik-Jan

المصدر: eBioMedicine ; volume 100, page 104994 ; ISSN 2352-3964

الاتاحة: http://dx.doi.org/10.1016/j.ebiom.2024.104994
https://api.elsevier.com/content/article/PII:S235239642400029X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S235239642400029X?httpAccept=text/plain

المؤلفون: Slavotinek, Anne, Misceo, Doriana, Htun, Stephanie, Mathisen, Linda, Frengen, Eirik, Foreman, Michelle, Hurtig, Jennifer E, Enyenihi, Liz, Sterrett, Maria C, Leung, Sara W, Schneidman-Duhovny, Dina, Estrada-Veras, Juvianee, Duncan, Jacque L, Haaxma, Charlotte A, Kamsteeg, Erik-Jan, Xia, Vivian, Beleford, Daniah, Si, Yue, Douglas, Ganka, Treidene, Hans Einar, van Hoof, Ambro, Fasken, Milo B, Corbett, Anita H

المصدر: Human Molecular Genetics. 29(13)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Rare Diseases, Neurosciences, 2.1 Biological and endogenous factors, Animals, Antigens, Neoplasm, Cerebellum, Developmental Disabilities, Dwarfism, Exosome Multienzyme Ribonuclease Complex, Frameshift Mutation, Homozygote, Humans, Mutation, Missense, Nervous System Malformations, Pedigree, RNA-Binding Proteins, Zebrafish, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4t04689r
https://escholarship.org/content/qt4t04689r/qt4t04689r.pdf

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

المؤلفون: Johnstone, Devon L, Al-Shekaili, Hilal H, Tarailo-Graovac, Maja, Wolf, Nicole I, Ivy, Autumn S, Demarest, Scott, Roussel, Yann, Ciapaite, Jolita, van Roermund, Carlo WT, Kernohan, Kristin D, Kosuta, Ceres, Ban, Kevin, Ito, Yoko, McBride, Skye, Al-Thihli, Khalid, Abdelrahim, Rana A, Koul, Roshan, Al Futaisi, Amna, Haaxma, Charlotte A, Olson, Heather, Sigurdardottir, Laufey Yr, Arnold, Georgianne L, Gerkes, Erica H, Boon, M, Heiner-Fokkema, M Rebecca, Noble, Sandra, Bosma, Marjolein, Jans, Judith, Koolen, David A, Kamsteeg, Erik-Jan, Drögemöller, Britt, Ross, Colin J, Majewski, Jacek, Cho, Megan T, Begtrup, Amber, Wasserman, Wyeth W, Bui, Tuan, Brimble, Elise, Violante, Sara, Houten, Sander M, Wevers, Ron A, van Faassen, Martijn, Kema, Ido P, Lepage, Nathalie, Lines, Matthew A, Dyment, David A, Wanders, Ronald JA, Verhoeven-Duif, Nanda, Ekker, Marc, Boycott, Kym M, Friedman, Jan M, Pena, Izabella A, van Karnebeek, Clara DM

المصدر: Brain. 142(3)

مصطلحات موضوعية: Epilepsy, Neurosciences, Brain Disorders, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Animals, Disease Models, Animal, Female, HEK293 Cells, Humans, Male, Phenotype, Proteins, Pyridoxal Phosphate, Pyridoxine, Vitamin B 6, Vitamin B 6 Deficiency, Zebrafish, PLPBP, PROSC, epilepsy, pyridoxine, vitamin B6-responsive epilepsy, Care4Rare Canada Consortium, PLPBP, PROSC, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/235891bk

المؤلفون: Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G., Hoischen, Alexander, Nelen, Marcel, Gilissen, Christian, Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoen, Peter A. C. ’t, Vissers, Lisenka E. L. M., Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, te Paske, Iris, Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Yaou, Rabah Ben, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Efthymiou, Stephanie, Morsy, Heba, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Abbott, Kristin M., Frederikse, Wilhemina SKerstjens, Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, de Sainte Agathe, Jean-Madeleine, Rooryck, Caroline, Lacombe, Didier, Trimouille, Aurelien, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, de la Rosa, F. Javier Alonso García, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Balicza, Peter, Molnar, Maria Judit, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Osorio, Andrés Nascimento, de Benito, Daniel Natera, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Beeson, David, Cossins, Judith, Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Horvath, Rita, Chinnery, Patrick F., Ratnaike, Thiloka, Gao, Fei, Schon, Katherine, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas, Başak, Ayşe Nazlı, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Claeys, Kristl, Santen, Gijs W. E., Bijlsma, Emilia K., Hoffer, Mariette J. V., Ruivenkamp, Claudia A. L., Boztug, Kaan, Haimel, Matthias, Maystadt, Isabelle, Cordts, Isabelle, Deschauer, Marcus, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Depienne, Christel, Roos, Andreas, May, Patrick, null, null

المساهمون: Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G., Hoischen, Alexander, Nelen, Marcel, Gilissen, Christian, Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthi, Wilke, Carlo, Traschütz, Andrea, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Han, Hoogerbrugge, Nicoline, Hoen, Peter A. C. ’t, Vissers, Lisenka E. L. M., Steyaert, Wouter, Sablauskas, Karoli, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, te Paske, Iri, Janssen, Erik, de Boer, Elke, Steehouwer, Marloe, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thoma, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yanni, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasio, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marco, Hernández, Carle, Picó, Daniel, Paramonov, Ida, Lochmüller, Hann, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni

مصطلحات موضوعية: Exome sequencing, Genome sequencing, Uniformity of coverage

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/37138343; info:eu-repo/semantics/altIdentifier/wos/WOS:000979939700001; volume:17; issue:1; firstpage:39-1; lastpage:39-9; numberofpages:9; journal:HUMAN GENOMICS; https://hdl.handle.net/11392/2543391; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85158030412; https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5

الاتاحة: https://hdl.handle.net/11392/2543391
https://doi.org/10.1186/s40246-023-00485-5
https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5

المؤلفون: Helbig, Katherine L, Lauerer, Robert J, Bahr, Jacqueline C, Souza, Ivana A, Myers, Candace T, Uysal, Betül, Schwarz, Niklas, Gandini, Maria A, Huang, Sun, Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, de Villemeur, Thierry Billette, Héron, Delphine, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R, Soerensen, Kristina P, Kibaek, Maria, Kamsteeg, Erik-Jan, Koolen, David A, Gunning, Boudewijn, Schelhaas, H Jurgen, Kruer, Michael C, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C, Klee, Eric W, Tillema, Jan-Mendelt, Payne, Eric T, Cousin, Margot A, Kruisselbrink, Teresa M, Wick, Myra J, Baker, Joshua, Haan, Eric, Smith, Nicholas, Sadeghpour, Azita, Davis, Erica E, Katsanis, Nicholas, Genomics, Task Force for Neonatal, Allori, Alexander, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Boyd, Brita, Chambers, Eileen, Cope, Heidi, Cotten, C Michael, Curington, Theresa, Ellestad, Sarah, Fisher, Kimberley, French, Amanda, Gallentine, William, Goldberg, Ronald, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Purves, Todd, Ross, Sherry, Smith, Edward, Wiener, John, Corbett, Mark A, MacLennan, Alastair H, Gecz, Jozef, Biskup, Saskia, Goldmann, Eva, Rodan, Lance H, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E, Asamoah, Alexander, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D, Filloux, Francis, Tvrdik, Tatiana, Cascino, Gregory D

المصدر: American Journal of Human Genetics. 103(5)

مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Neurodegenerative, Brain Disorders, Neurosciences, Epilepsy, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Calcium Channels, R-Type, Cation Transport Proteins, Child, Child, Preschool, Contracture, Dyskinesias, Female, Genetic Variation, Humans, Infant, Male, Megalencephaly, Neurodevelopmental Disorders, Spasms, Infantile, Task Force for Neonatal Genomics, Deciphering Developmental Disorders Study, CACNA1E, ion channel, arthrogryposis, calcium channel, epilepsy, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2061z9kg

المؤلفون: Steyaert, Wouter, Haer-Wigman, Lonneke, Pfundt, Rolph, Hellebrekers, Debby, Steehouwer, Marloes, Hampstead, Juliet, de Boer, Elke, Stegmann, Alexander, Yntema, Helger, Kamsteeg, Erik-Jan, Brunner, Han, Hoischen, Alexander, Gilissen, Christian

المصدر: NATURE COMMUNICATIONS ; ISSN: 2041-1723

مصطلحات موضوعية: Medicine and Health Sciences, COPY NUMBER VARIATION, GENE CONVERSION, SEQUENCE, EVOLUTION, ALIGNMENT

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/01J3NESS9T65QKS1C7P8J4ZPAR; https://biblio.ugent.be/publication/01J3NESS9T65QKS1C7P8J4ZPAR/file/01JAQNV1XA4H7HCGXKYPE3G42K

الاتاحة: https://biblio.ugent.be/publication/01J3NESS9T65QKS1C7P8J4ZPAR
http://hdl.handle.net/1854/LU-01J3NESS9T65QKS1C7P8J4ZPAR
https://doi.org/10.1038/s41467-023-42531-9
https://biblio.ugent.be/publication/01J3NESS9T65QKS1C7P8J4ZPAR/file/01JAQNV1XA4H7HCGXKYPE3G42K

المؤلفون: van Jaarsveld, Richard H., Reilly, Jack, Cornips, Marie-Claire, Hadders, Michael A., Agolini, Emanuele, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Bellanger, Severine Audebert, van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Brischoux-Boucher, Elise, Caylor, Raymond C., Ciolfi, Andrea, van Essen, Ton A. J., Fontana, Paolo, Hopman, Saskia, Iascone, Maria, Javier, Margaret M., Kamsteeg, Erik-Jan, Kerkhof, Jennifer, Kido, Jun, Kim, Hyung-Goo, Kleefstra, Tjitske, Lonardo, Fortunato, Lai, Abbe, Lev, Dorit, Levy, Michael A., Lewis, M. E. Suzanne, Lichty, Angie, Mannens, Marcel M. A. M., Matsumoto, Naomichi, Maya, Idit, McConkey, Haley, Megarbane, Andre, Michaud, Vincent, Miele, Evelina, Niceta, Marcello, Novelli, Antonio, Onesimo, Roberta, Pfundt, Rolph, Popp, Bernt, Prijoles, Eloise, Relator, Raissa, Redon, Sylvia, Rots, Dmitrijs, Rouault, Karen, Saida, Ken, Schieving, Jolanda, Tartaglia, Marco, Tenconi, Romano, Uguen, Kevin, Verbeek, Nienke, Walsh, Christopher A., Yosovich, Keren, Yuskaitis, Christopher J., Zampino, Giuseppe, Sadikovic, Bekim, Alders, Mariëlle, Oegema, Renske

المصدر: van Jaarsveld , R H , Reilly , J , Cornips , M-C , Hadders , M A , Agolini , E , Ahimaz , P , Anyane-Yeboa , K , Bellanger , S A , van Binsbergen , E , van den Boogaard , M-J , Brischoux-Boucher , E , Caylor , R C , Ciolfi , A , van Essen , T A J , Fontana , P , Hopman , S , Iascone , M , Javier , M M , Kamsteeg , E-J , Kerkhof , J , Kido , J , Kim , H-G ....

الاتاحة: https://research.vumc.nl/en/publications/3b04e7e5-7564-479a-aa70-2dd1d5f307dd
https://doi.org/10.1016/j.gim.2022.09.006
http://www.scopus.com/inward/record.url?scp=85141320488&partnerID=8YFLogxK

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, Rubio Gozalbo, M.E., 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: Biochimica et Biophysica Acta - Molecular Basis of Disease 1869 (2023) 8 ; ISSN: 0925-4439

مصطلحات موضوعية: Calcium, EMRE, MCU, Mitochondria, Muscle involvement, SMDT1

وصف الملف: application/pdf

Relation: https://edepot.wur.nl/636605

الاتاحة: https://research.wur.nl/en/publications/smdt1-variants-impair-emre-mediated-mitochondrial-calcium-uptake-
https://doi.org/10.1016/j.bbadis.2023.166808