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: Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y, Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M, Gunay-Aygun, Meral, Muriello, Michael J, Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G, Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl AAP, Oegema, Renske, Mitchell, Wendy G, Pierson, Tyler Mark, Andrews, Marisa V, Willing, Marcia C, Rodan, Lance H, Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H, Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M, Hashem, Mais O, AlSayed, Moeenaldeen D, Abdulrahim, Maha M, Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel AH, Faqeih, Eissa A, Asmari, Ali Al, Algain, Sulwan M, Jad, Lamyaa A, Aldhalaan, Hesham M, Helbig, Ingo, Koolen, David A, Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E, Klee, Eric W, Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A, Stewart, James C, Claridge-Chang, Adam, Lefeber, Dirk J, Alkuraya, Fowzan S, Mathuru, Ajay S, Venkatesh, Byrappa, Barycki, Joseph J, Simpson, Melanie A, Jamuar, Saumya S, Schöls, Ludger, Reversade, Bruno

المصدر: Nature communications. 11(1)

مصطلحات موضوعية: Organoids, Animals, Zebrafish, Humans, Epilepsy, Syndrome, Oxidoreductases, Pedigree, Kinetics, Genes, Recessive, Alleles, Adolescent, Child, Child, Preschool, Infant, Female, Male, Protein Domains, Loss of Function Mutation, Preschool, Genes, Recessive

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5f80k46t

المؤلفون: Abrams, Alexander J, Hufnagel, Robert B, Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A, Campeanu, Ion J, Griffin, Laurie B, Groenewald, Saskia, Strickland, Alleene V, Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M, Sund, Kristen L, Wang, Xinjian, Krueger, Laura A, Peng, Yanyan, Prada, Carlos E, Prows, Cynthia A, Schorry, Elizabeth K, Antonellis, Anthony, Zimmerman, Holly H, Abdul-Rahman, Omar A, Yang, Yaping, Downes, Susan M, Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Németh, Andrea H, Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E

المصدر: Nature genetics. 47(8)

مصطلحات موضوعية: COS Cells, Embryo, Nonmammalian, Animals, Animals, Genetically Modified, Zebrafish, Humans, Optic Atrophy, Autosomal Dominant, Charcot-Marie-Tooth Disease, Genetic Predisposition to Disease, Phosphate Transport Proteins, Muscle Proteins, Saccharomyces cerevisiae Proteins, Membrane Proteins, Mitochondrial Proteins, Microscopy, Confocal, Microscopy, Electron, Transmission, Pedigree, Sequence Analysis, DNA, RNA Interference, Protein Binding, Mutation, Female, Male, Mitochondrial Membranes, HEK293 Cells, Exome, Chlorocebus aethiops, Brain Disorders, Genetics, Neurosciences, Rare Diseases, Eye Disease and Disorders of Vision, Neurological, Biological Sciences, Medical and Health Sciences, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2ft7n3zk

المؤلفون: Theofilopoulos, Spyridon, Griffiths, William J, Morris, Andrew A, Martinez, Adelaida, Reddy, M Ashwin, Martinuzzi, Andrea, Bassi, Maria T, Honda, Akira, Mizuochi, Tatsuki, Kimura, Akihiko, Nittono, Hiroshi, De Michele, Giuseppe, Crick, Peter J, Carbone, Rosa, Criscuolo, Chiara, Yau, Joyce L, Seckl, Jonathan R, Schüle, Rebecca, Schöls, Ludger, Sailer, Andreas W, Kuhle, Jens, Fraidakis, Matthew J, Gustafsson, Jan-Åke, Yang, Shanzheng, Steffensen, Knut R, Björkhem, Ingemar, Ernfors, Patrik, Sjövall, Jan, Arenas, Ernest, Wang, Yuqin, Meljon, Anna, Ogundare, Michael, Kitambi, Satish Srinivas, Lockhart, Andrew, Tuschl, Karin, Clayton, Peter T

المساهمون: Theofilopoulos, S, Griffiths, Wj, Crick, Pj, Yang, S, Meljon, A, Ogundare, M, Kitambi, S, Lockhart, A, Tuschl, K, Clayton, Pt, Morris, Aa, Martinez, A, Reddy, Ma, Martinuzzi, A, Bassi, Mt, Honda, A, Mizuochi, T, Kimura, A, Nittono, H, DE MICHELE, Giuseppe, Carbone, Rosa, Criscuolo, Chiara, Yau, Jl, Seckl, Jr, Schüle, R, Schöls, L, Sailer, Aw, Kuhle, J, Fraidakis, Mj, Gustafsson, Jå, Steffensen, Kr, Björkhem, I, Ernfors, P, Sjövall, J, Arenas, E, Wang, Y.

المصدر: The journal of clinical investigation 124(11), 4829-4842 (2014). doi:10.1172/JCI68506

مصطلحات موضوعية: Male, cerebrospinal fluid [Paraparesis, Spastic], Cell Survival, LIM-Homeodomain Proteins, cerebrospinal fluid [Cholestenes], metabolism [Orphan Nuclear Receptors], Animals, Humans, metabolism [Transcription Factors], ddc:610, Cells, Cultured, Zebrafish, Liver X Receptors, Mice, Knockout, Motor Neurons, Cholestenes, cerebrospinal fluid [Xanthomatosis, Cerebrotendinous], blood [Xanthomatosis, Cerebrotendinous], Xanthomatosis, Cerebrotendinous, Orphan Nuclear Receptors, blood [Cholestenes], metabolism [LIM-Homeodomain Proteins], cholestenoic acid, Mice, Inbred C57BL, blood [Paraparesis, Spastic], Paraparesis, Spastic, insulin gene enhancer binding protein Isl-1, Female, physiology [Motor Neurons], Transcription Factors, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b0eba91b22791e0e44531303605f4eb5
https://europepmc.org/articles/PMC4347238/

المؤلفون: Rieber, Nikolaus, Singh, Anurag, Öz, Hasan, Carevic, Melanie, Bouzani, Maria, Amich, Jorge, Ost, Michael, Ye, Zhiyong, Ballbach, Marlene, Schäfer, Iris, Mezger, Markus, Klimosch, Sascha N., Weber, Alexander N.R., Handgretinger, Rupert, Krappmann, Sven, Liese, Johannes, Engeholm, Maik, Schüle, Rebecca, Salih, Helmut Rainer, Marodi, Laszlo, Speckmann, Carsten, Grimbacher, Bodo, Ruland, Jürgen, Brown, Gordon D., Beilhack, Andreas, Loeffler, Juergen, Hartl, Dominik

المصدر: Cell Host & Microbe

مصطلحات موضوعية: Cancer Research, Neutrophils, Aspergillus fumigatus, Candidiasis, CARD Signaling Adaptor Proteins, Disease Models, Animal, Mice, Short Article, Immunology and Microbiology(all), Candida albicans, Host-Pathogen Interactions, Immune Tolerance, Animals, Aspergillosis, Humans, Lectins, C-Type, Molecular Biology, Cells, Cultured, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8349ca4206879fda3013c3d176ae57c2

المؤلفون: Wilke, Carlo, Haas, Eva, Reetz, Kathrin, Faber, Jennifer, Garcia‐Moreno, Hector, Santana, Magda M, Warrenburg, Bart, Hengel, Holger, Lima, Manuela, Filla, Alessandro, Durr, Alexandra, Melegh, Bela, Masciullo, Marcella, Infante, Jon, Giunti, Paola, Neumann, Manuela, Vries, Jeroen, Pereira de Almeida, Luis, Rakowicz, Maria, Jacobi, Heike, Schüle, Rebecca, Kaeser, Stephan A, Kuhle, Jens, Klockgether, Thomas, Schöls, Ludger, Barro, Christian, Hübener‐Schmid, Jeannette, Synofzik, Matthis, Deuschle, Christian, Stransky, Elke, Brockmann, Kathrin, Schulz, Jörg B, Baliko, Laszlo, Gaalen, Judith, Raposo, Mafalda, Jeromin, Andreas

المصدر: EMBO Molecular Medicine
EMBO molecular medicine 12(7), e11803 (2020). doi:10.15252/emmm.201911803
EMBO Molecular Medicine, 12(7):11803. Wiley

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, FEATURES, chemistry [Intermediate Filaments], Intermediate Filaments, PROTEIN, Prodromal Symptoms, CSF, Severity of Illness Index, Article, blood [Machado-Joseph Disease], Mice, Animals, Humans, ddc:610, knock‐in mouse model, knock-in mouse model, Biomarkers & Diagnostic Imaging, LIGHT-CHAIN, blood [Biomarkers], DISEASE PROGRESSION, presymptomatic stage, MOUSE MODEL, Machado-Joseph Disease, Articles, phosphorylated neurofilament heavy chain, spinocerebellar ataxia type 3, Cross-Sectional Studies, neurofilament light chain, ONSET, Female, NEUROPATHOLOGY, Biomarkers, Neuroscience

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::82c5c841614970207227ce961662fe86