المؤلفون: Saffari, Afshin, Tajsharghi, Homa, Maroofian, Reza

المصدر: Brain. 146(8):3273-3288

مصطلحات موضوعية: AMC5, NDD, Torsin-1A, arthrogryposis multiplex congenita 5, biallelic variation, Translationell medicin TRIM, Translational Medicine TRIM

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-22889
https://doi.org/10.1093/brain/awad039
https://his.diva-portal.org/smash/get/diva2:1777786/FULLTEXT02.pdf

المؤلفون: Saffari, Afshin^{Aff1, Aff2}, Brechmann, Barbara, Böger, Cedric, Saber, Wardiya Afshar, Jumo, Hellen^{Aff1, Aff3}, Whye, Dosh, Wood, Delaney, Wahlster, Lara, Alecu, Julian E., Ziegler, Marvin, Scheffold, Marlene, Winden, Kellen, Hubbs, Jed, Buttermore, Elizabeth D., Barrett, Lee, Borner, Georg H. H., Davies, Alexandra K.^{Aff5, Aff6}, Ebrahimi-Fakhari, Darius^{Aff1, Aff7, IDs41467023442641_cor18}, Sahin, Mustafa^{Aff1, Aff3}

المصدر: Nature Communications. 15(1)

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المؤلفون: Ebrahimi-Fakhari, Darius, Teinert, Julian, Behne, Robert, Wimmer, Miriam, D'Amore, Angelica, Eberhardt, Kathrin, Brechmann, Barbara, Ziegler, Marvin, Jensen, Dana M., Nagabhyrava, Premsai, Geisel, Gregory, Carmody, Erin, Shamshad, Uzma, Dies, Kira A., Yuskaitis, Christopher J., Salussolia, Catherine L., Ebrahimi-Fakhari, Daniel, Pearson, Toni S., Saffari, Afshin, Ziegler, Andreas, Koelker, Stefan, Volkmann, Jens, Wiesener, Antje, Bearden, David R., Lakhani, Shenela, Segal, Devorah, Udwadia-Hegde, Anaita, Martinuzzi, Andrea, Hirst, Jennifer, Perlman, Seth, Takiyama, Yoshihisa, Xiromerisiou, Georgia, Vill, Katharina, Walker, William O., Shukla, Anju, Gupta, Rachana Dubey, Dahl, Niklas, Aksoy, Ayse, Verhelst, Helene, Delgado, Mauricio R., Pourova, Radka Kremlikova, Sadek, Abdelrahim A., Elkhateeb, Nour M., Blumkin, Lubov, Brea-Fernandez, Alejandro J., Dacruz-Alvarez, David, Smol, Thomas, Ghoumid, Jamal, Miguel, Diego, Heine, Constanze, Schlump, Jan-Ulrich, Langen, Hendrik, Baets, Jonathan, Bulk, Saskia, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C., Lim-Melia, Elizabeth, Aydinli, Nur, Alanay, Yasemin, El-Rashidy, Omnia, Nampoothiri, Sheela, Patel, Chirag, Beetz, Christian, Bauer, Peter, Yoon, Grace, Guillot, Mireille, Miller, Steven P., Bourinaris, Thomas, Houlden, Henry, Robelin, Laura, Anheim, Mathieu, Alamri, Abdullah S., Mahmoud, Adel A. H., Inaloo, Soroor, Habibzadeh, Parham, Faghihi, Mohammad Ali, Jansen, Anna C., Brock, Stefanie, Roubertie, Agathe, Darras, Basil T., Agrawal, Pankaj B., Santorelli, Filippo M., Gleeson, Joseph, Zaki, Maha S., Sheikh, Sarah, I, Bennett, James T., Sahin, Mustafa

المصدر: Brain. 143(10):2929-2944

مصطلحات موضوعية: SPG47, SPG50, SPG51, SPG52, neurodegeneration

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-435414
https://doi.org/10.1093/brain/awz307

المؤلفون: Akula, Shyam K., Quiroz, Vicente, D'Gama, Alissa M., Chiu, Michelle Y., Koh, Hyun Yong, Saffari, Afshin, Zaman, Zainab, Tam, Amy, Srouji, Rasha, Valentine, Rozalia, Wiltrout, Kimberly, Pinto, Anna, Harini, Chellamani, Pearl, Phillip L., Poduri, Annapurna, Ebrahimi‐Fakhari, Darius

المصدر: Annals of Clinical & Translational Neurology; Jun2024, Vol. 11 Issue 6, p1643-1647, 5p

مصطلحات موضوعية: MOVEMENT disorders, FOCAL dystonia, MISSENSE mutation, SYNDROMES, CHILDREN with epilepsy, DYSKINESIAS

المؤلفون: Ercan, Ebru, Han, Juliette M, Di Nardo, Alessia, Winden, Kellen, Han, Min-Joon, Hoyo, Leonie, Saffari, Afshin, Leask, Andrew, Geschwind, Daniel H, Sahin, Mustafa

المصدر: Journal of Experimental Medicine. 214(3)

مصطلحات موضوعية: Intellectual and Developmental Disabilities (IDD), Genetics, Brain Disorders, Tuberous Sclerosis, Neurodegenerative, Rare Diseases, Neurosciences, Autoimmune Disease, Multiple Sclerosis, 1.1 Normal biological development and functioning, Underpinning research, Neurological, Animals, Connective Tissue Growth Factor, Disease Models, Animal, Mice, Mice, Inbred C57BL, Mice, Inbred CBA, Myelin Sheath, Neurons, Oligodendroglia, Rats, TOR Serine-Threonine Kinases, Tuberous Sclerosis Complex 1 Protein, Tuberous Sclerosis Complex 2 Protein, Tumor Suppressor Proteins, Medical and Health Sciences, Immunology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6pb3782b

المؤلفون: Saffari, Afshin, Cannet, Claire, Blaschek, Astrid, Hahn, Andreas, Hoffmann, Georg F., Johannsen, Jessika, Kirsten, Romy, Kockaya, Musa, Kölker, Stefan, Müller-Felber, Wolfgang, Roos, Andreas, Schäfer, Hartmut, Schara, Ulrike, Spraul, Manfred, Trefz, Friedrich K., Vill, Katharina, Wick, Wolfgang, Weiler, Markus, Okun, Jürgen G., Ziegler, Andreas^Aff1

المصدر: Orphanet Journal of Rare Diseases. 16(1)

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المؤلفون: Ziegler, Andreas^Aff1, Wilichowski, Ekkehard, Schara, Ulrike, Hahn, Andreas, Müller-Felber, Wolfgang, Johannsen, Jessika, von der Hagen, Maja, von Moers, Arpad, Stoltenburg, Corinna, Saffari, Afshin, Walter, Maggie C., Husain, Ralf A., Pechmann, Astrid, Köhler, Cornelia, Horber, Veronka, Schwartz, Oliver, Kirschner, Janbernd

المصدر: Der Nervenarzt. 91(6):518-529

المؤلفون: Saffari, Afshin, Weiler, Markus, Hoffmann, Georg Friedrich, Ziegler, Andreas^Aff1

المصدر: Der Nervenarzt. 90(8):809-816