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

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المؤلفون: G, Amico, L, Banov, V, Capra, R, Caorsi, F, Caroli, C, Gandolfo, T, Giacomini, AC, Molinari, P, Moretti, A, Moscatelli, L, Nobili, A, Palmieri, M, Pavanello, G, Prato, A, Rimini, A, Ronchetti, S, Signa, S, Uccella, Grossi, Alice, Severino, Mariasavina, Rusmini, Marta, Tortora, Domenico, Ramenghi, Luca A., Cama, Armando, Rossi, Andrea, Di Rocco, Maja, Ceccherini, Isabella, Bertamino, Marta

المصدر: In European Journal of Medical Genetics November 2020 63(11)

المؤلفون: Miano, Maurizio, Bertola, Nadia, Grossi, Alice, Dell'Orso, Gianluca, Regis, Stefano, Rusmini, Marta, Uva, Paolo, Vozzi, Diego, Fioredda, Francesca, Palmisani, Elena, Lupia, Michela, Lanciotti, Marina, Grilli, Federica, Corsolini, Fabio, Arcuri, Luca, Giarratana, Maria Carla, Ceccherini, Isabella, Dufour, Carlo, Cappelli, Enrico, Ravera, Silvia

المصدر: International Journal of Molecular Sciences; Feb2024, Vol. 25 Issue 4, p2083, 13p

مصطلحات موضوعية: RNA splicing, GENETIC variation, ALTERNATIVE RNA splicing, METABOLISM, MITOCHONDRIA, BONE marrow

المؤلفون: Ceccherini, Isabella^Aff4, Rusmini, Marta^Aff4, Arostegui, Juan Ignacio^Aff5

المساهمون: Hashkes, Philip J., editor^Aff1, Laxer, Ronald M., editor^Aff2, Simon, Anna, editor^Aff3

المصدر: Textbook of Autoinflammation. :19-48

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