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Afshin Saffari

Harvard Medical School
H指数:21
被引数:1,769

个人简介

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荣誉奖项

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Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47
EMBO MOLECULAR MEDICINE
IF8.3
2024-10-020
OAAI
Wiseman, Jessica P.; Scarrott, Joseph M.; Alves-Cruzeiro, Joao; Saffari, Afshin; Boger, Cedric; Karyka, Evangelia; Dawes, Emily; Davies, Alexandra K.; Marchi, Paolo M.; Graves, Emily; Fernandes, Fiona; Yang, Zih-Liang; Coldicott, Ian; Hirst, Jennifer; Webster, Christopher P.; Highley, J. Robin; Hackett, Neil; Angyal, Adrienn; de Silva, Thushan; Higginbottom, Adrian; Shaw, Pamela J.; Ferraiuolo, Laura; Ebrahimi-Fakhari, Darius; Azzouz, Mimoun
The systemic complexity of a monogenic disease: the molecular network of spinal muscular atrophy
BRAIN
IF11.7
2024-08-261
PRE
Tapken, Ines; Schweitzer, Theresa; Paganin, Martina; Schuening, Tobias; Detering, Nora T.; Sharma, Gaurav; Niesert, Moritz; Saffari, Afshin; Kuhn, Daniela; Glynn, Amy; Cieri, Federica; Santonicola, Pamela; Cannet, Claire; Gerstner, Florian; Faller, Kiterie M. E.; Huang, Yu-Ting; Kothary, Rashmi; Gillingwater, Thomas H.; Di Schiavi, Elia; Simon, Christian M.; Hensel, Niko; Ziegler, Andreas; Viero, Gabriella; Pich, Andreas; Claus, Peter
The expanding clinical and genetic spectrum of DYNC1H1-related disorders
BRAIN
IF11.7
2024-06-080
OAAI
Moeller, Birk; Becker, Lena-Luise; Saffari, Afshin; Afenjar, Alexandra; Coci, Emanuele G.; Williamson, Rachel; Ward-Melver, Catherine; Gibaud, Marc; Sedlackova, Lucie; Lassuthova, Petra; Liba, Zuzana; Vlckova, Marketa; William, Nancy; Klee, Eric W.; Gavrilova, Ralitza H.; Levy, Jonathan; Capri, Yline; Scavina, Mena; Koerner, Robert Walter; Valivullah, Zaheer; Weiss, Claudia; Moeller, Greta Marit; Frazier, Zoe; Roberts, Amy; Gener, Blanca; Scala, Marcello; Striano, Pasquale; Zara, Federico; 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; Kuesters, Benno; Beggs, Alan H.; Sveden, Abigail; Chopra, Maya; Genetti, Casie A.; Nicolai, Joost; Doetsch, Joerg; Koy, Anne; Boennemann, Carsten G.; von der Hagen, Maja; von Kleist-Retzow, Juergen-Christoph; Voermans, Nicol C.; Jungbluth, Heinz; Dafsari, Hormos Salimi
High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia
NATURE COMMUNICATIONS
IF15.7
2024-01-175
OAAI
Saffari, Afshin; Brechmann, Barbara; Boger, Cedric; Saber, Wardiya Afshar; Jumo, Hellen; 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.; Ebrahimi-Fakhari, Darius; Sahin, Mustafa
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1
NEUROLOGY
IF8.5
2023-08-293
OA
Thalwitzer, Kim M.; Driedger, Jan H.; Xian, Julie; Saffari, Afshin; Zacher, Pia; Boelsterli, Bigna K.; Ruggiero, Sarah McKeown; Sullivan, Katie Rose; Datta, Alexandre N.; Kellinghaus, Christoph; Althaus, Juergen; Wiemer-Kruel, Adelheid; van Baalen, Andreas; Pampel, Armin; Alber, Michael; Braakman, Hilde M. H.; Debus, Otfried M.; Denecke, Jonas; Hobbiebrunken, Elke; Breitweg, Ina; Diehl, Danielle; Eitel, Hans; Gburek-Augustat, Janina; Preisel, Martin; Schlump, Jan-Ulrich; Laufs, Mirjam; Mammadova, Dilbar; Wurst, Carsten; Prager, Christine; Loehr-Nilles, Christa; Martin, Peter; Garbade, Sven F.; Platzer, Konrad; Benkel-Herrenbrueck, Ira; Egler, Kerstin; Fazeli, Walid; Lemke, Johannes R.; Runkel, Eva; Klein, Barbara; Linden, Tobias; Schroeter, Julian; Steffeck, Heike; Thies, Bastian; von Deimling, Florian; Illsinger, Sabine; Borggraefe, Ingo; Classen, Georg; Wieczorek, Dagmar; Ramantani, Georgia; Koelker, Stefan; Hoffmann, Georg F.; Ries, Markus; Helbig, Ingo; Syrbe, Steffen
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
BRAIN
IF11.7
2023-02-094
OAAI
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; Dario Ortigoza-Escobar, Juan; AlShamsi, Aisha M.; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Jesus Martinez-Gonzalez, Maria; 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, Sebastien; Bruel, Ange-Line; Rieubland, Claudine; Gallati, Sabina; Strom, Tim M.; Lochmueller, 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
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15
BRAIN
IF11.7
2022-10-315
OA
Saffari, Afshin; Kellner, Melanie; Jordan, Catherine; Rosengarten, Helena; Mo, Alisa; Zhang, Bo; Strelko, Oleksandr; Neuser, Sonja; Davis, Marie Y.; Yoshikura, Nobuaki; Futamura, Naonobu; Takeuchi, Tomoya; Nabatame, Shin; Ishiura, Hiroyuki; Tsuji, Shoji; Aldeen, Huda Shujaa; Cali, Elisa; Rocca, Clarissa; Houlden, Henry; Efthymiou, Stephanie; Assmann, Birgit; Yoon, Grace; Trombetta, Bianca A.; Kivisakk, Pia; Eichler, Florian; Nan, Haitian; Takiyama, Yoshihisa; Tessa, Alessandra; Santorelli, Filippo M.; Sahin, Mustafa; Blackstone, Craig; Yang, Edward; Schuele, Rebecca; Ebrahimi-Fakhari, Darius
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST

由SPAST的从头变异引起的早发性和严重的复杂遗传性痉挛性截瘫

MOVEMENT DISORDERS
IF7.6
2022-09-1410
OA
Mo, Alisa; Saffari, Afshin; Kellner, Melanie; Dobler-Neumann, Marion; Jordan, Catherine; Srivastava, Siddharth; Zhang, Bo; Sahin, Mustafa; Fink, John K.; Smith, Linsley; Posey, Jennifer E.; Alter, Katharine E.; Toro, Camilo; Blackstone, Craig; Soldatos, Ariane G.; Christie, Michelle; Schule, Rebecca; Ebrahimi-Fakhari, Darius

研究方向

暂未获取到该数据
D
Darius Ebrahimi‐Fakhari
H 指数:37论文数:192被引数:1.3万
M
Mustafa Kürşat Şahin
H 指数:13论文数:89被引数:1,103
G
Georg F. Hoffmann
H 指数:101论文数:1,118被引数:3.8万
S
Stefan Kölker
H 指数:61论文数:823被引数:1.2万
J
Julian E. Alecu
H 指数:10论文数:44被引数:306
A
Andreas Ziegler
H 指数:23论文数:83被引数:1,607
M
M. L. ZIEGLER
H 指数:12论文数:142被引数:443
C
Catherine Jordan
H 指数:7论文数:10被引数:410
S
Steffen Syrbe
H 指数:36论文数:201被引数:5,336
L
Lara Wahlster
H 指数:20论文数:53被引数:1,805