Novel challenges in spinal muscular atrophy – How to screen and whom to treat?

por Saffari, Afshin, Kölker, Stefan, Hoffmann, Georg F., Weiler, Markus, Ziegler, Andreas
Publicado 2018

Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex

por Ercan, Ebru, Han, Juliette M., Di Nardo, Alessia, Winden, Kellen, Han, Min-Joon, Hoyo, Leonie, Saffari, Afshin, Leask, Andrew, Geschwind, Daniel H., Sahin, Mustafa
Publicado 2017

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis

por Alecu, Julian E., Saffari, Afshin, Jumo, Hellen, Ziegler, Marvin, Strelko, Oleksandr, Brownstein, Catherine A., Gonzalez‐Heydrich, Joseph, Rodan, Lance H., Gorman, Mark P., Sahin, Mustafa, Ebrahimi‐Fakhari, Darius
Publicado 2022

High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia

por Saffari, Afshin, Brechmann, Barbara, Boeger, Cedric, Saber, Wardiya Afshar, jumo, Hellen, Whye, Dosh, Wood, Delaney, Wahlster, Lara, Alecu, Julian, Ziegler, Marvin, Scheffold, Marlene, Winden, Kellen, Hubbs, Jed, Buttermore, Elizabeth, Barrett, Lee, Borner, Georg, Davies, Alexandra, Sahin, Mustafa, Ebrahimi-Fakhari, Darius
Publicado 2023

Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy

por Döring, Jan H., Saffari, Afshin, Bast, Thomas, Brockmann, Knut, Ehrhardt, Laura, Fazeli, Walid, Janzarik, Wibke G., Klabunde-Cherwon, Annick, Kluger, Gerhard, Muhle, Hiltrud, Pendziwiat, Manuela, Møller, Rikke S., Platzer, Konrad, Santos, Joana Larupa, Schröter, Julian, Hoffmann, Georg F., Kölker, Stefan, Syrbe, Steffen
Publicado 2022

(1)H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

por 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
Publicado 2021

High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia

por Ebrahimi-Fakhari, Darius, Alecu, Julian E, Brechmann, Barbara, Ziegler, Marvin, Eberhardt, Kathrin, Jumo, Hellen, D’Amore, Angelica, Habibzadeh, Parham, Faghihi, Mohammad Ali, De Bleecker, Jan L, Vuillaumier-Barrot, Sandrine, Auvin, Stéphane, Santorelli, Filippo M, Neuser, Sonja, Popp, Bernt, Yang, Edward, Barrett, Lee, Davies, Alexandra K, Saffari, Afshin, Hirst, Jennifer, Sahin, Mustafa
Publicado 2021

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study

por Saffari, Afshin, Brösse, Ines, Wiemer-Kruel, Adelheid, Wilken, Bernd, Kreuzaler, Paula, Hahn, Andreas, Bernhard, Matthias K., van Tilburg, Cornelis M., Hoffmann, Georg F., Gorenflo, Matthias, Hethey, Sven, Kaiser, Olaf, Kölker, Stefan, Wagner, Robert, Witt, Olaf, Merkenschlager, Andreas, Möckel, Andreas, Roser, Timo, Schlump, Jan-Ulrich, Serfling, Antje, Spiegler, Juliane, Milde, Till, Ziegler, Andreas, Syrbe, Steffen
Publicado 2019

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood

por Döring, Jan Henje, Saffari, Afshin, Bast, Thomas, Brockmann, Knut, Ehrhardt, Laura, Fazeli, Walid, Janzarik, Wibke G., Kluger, Gerhard, Muhle, Hiltrud, Møller, Rikke S., Platzer, Konrad, Santos, Joana Larupa, Bache, Iben, Bertsche, Astrid, Bonfert, Michaela, Borggräfe, Ingo, Broser, Philip J., Datta, Alexandre N., Hammer, Trine Bjørg, Hartmann, Hans, Hasse-Wittmer, Anette, Henneke, Marco, Kühne, Hermann, Lemke, Johannes R., Maier, Oliver, Matzker, Eva, Merkenschlager, Andreas, Opp, Joachim, Patzer, Steffi, Rostasy, Kevin, Stark, Birgit, Strzelczyk, Adam, von Stülpnagel, Celina, Weber, Yvonne, Wolff, Markus, Zirn, Birgit, Hoffmann, Georg Friedrich, Kölker, Stefan, Syrbe, Steffen
Publicado 2020

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

por Saffari, Afshin, Lau, Tracy, Tajsharghi, Homa, Karimiani, Ehsan Ghayoor, Kariminejad, Ariana, Efthymiou, Stephanie, Zifarelli, Giovanni, Sultan, Tipu, Toosi, Mehran Beiraghi, Sedighzadeh, Sahar, Siu, Victoria Mok, Ortigoza-Escobar, Juan Darío, AlShamsi, Aisha M, Ibrahim, Shahnaz, Al-Sannaa, Nouriya Abbas, Al-Hertani, Walla, Sandra, Whalen, Tarnopolsky, Mark, Alavi, Shahryar, Li, Chumei, Day-Salvatore, Debra-Lynn, Martínez-González, Maria Jesús, Levandoski, Kristin M, Bedoukian, Emma, Madan-Khetarpal, Suneeta, Idleburg, Michaela J, Menezes, Minal Juliet, Siddharth, Aishwarya, Platzer, Konrad, Oppermann, Henry, Smitka, Martin, Collins, Felicity, Lek, Monkol, Shahrooei, Mohmmad, Ghavideldarestani, Maryam, Herman, Isabella, Rendu, John, Faure, Julien, Baker, Janice, Bhambhani, Vikas, Calderwood, Laurel, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh Sadat, Hashemi, Narges, Doosti, Mohammad, Safi, Mojtaba, Ahangari, Najmeh, Torbati, Paria Najarzadeh, Abedini, Soheila, Salpietro, Vincenzo, Gulec, Elif Yilmaz, Eshaghian, Safieh, Ghazavi, Mohammadreza, Pascher, Michael T, Vogel, Marina, Abicht, Angela, Moutton, Sébastien, Bruel, Ange-Line, Rieubland, Claudine, Gallati, Sabina, Strom, Tim M, Lochmüller, Hanns, Mohammadi, Mohammad Hasan, Alvi, Javeria Raza, Zackai, Elaine H, Keena, Beth A, Skraban, Cara M, Berger, Seth I, Andrew, Erin H, Rahimian, Elham, Morrow, Michelle M, Wentzensen, Ingrid M, Millan, Francisca, Henderson, Lindsay B, Dafsari, Hormos Salimi, Jungbluth, Heinz, Gomez-Ospina, Natalia, McRae, Anne, Peter, Merlene, Veltra, Danai, Marinakis, Nikolaos M, Sofocleous, Christalena, Ashrafzadeh, Farah, Pehlivan, Davut, Lemke, Johannes R, Melki, Judith, Benezit, Audrey, Bauer, Peter, Weis, Denisa, Lupski, James R, Senderek, Jan, Christodoulou, John, Chung, Wendy K, Goodchild, Rose, Offiah, Amaka C, Moreno-De-Luca, Andres, Suri, Mohnish, Ebrahimi-Fakhari, Darius, Houlden, Henry, Maroofian, Reza
Publicado 2023