Darius Ebrahimi-Fakhari

Scopus Author ID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 59

Top Venues

Annals of clinical and translational neurology

Movement disorders : official journal of the Movement Disorder Society

Nature communications

Neurology. Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Afshin Saffari, Barbara Brechmann, Cedric Böger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye, Delaney Wood, Lara Wahlster, Julian E Alecu, Marvin Ziegler, Marlene Scheffold, Kellen Winden, Jed Hubbs, Elizabeth D Buttermore, Lee Barrett, Georg H H Borner, Alexandra K Davies, Darius Ebrahimi-Fakhari, Mustafa Sahin
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 15 (1) (2024)
Kathryn Yang, Vicente Quiroz, Amy Tam, Rasha Srouji, Ximena Villanueva, Claudia Amarales, Darius Ebrahimi-Fakhari
Juvenile-onset Huntington's disease - Spectrum and evolution of presenting movement disorders. Annals of clinical and translational neurology (2024)
Shyam K Akula, Vicente Quiroz, Alissa M D'Gama, Michelle Y Chiu, Hyun Yong Koh, Afshin Saffari, Zainab Zaman, Amy Tam, Rasha Srouji, Rozalia Valentine, Kimberly Wiltrout, Anna Pinto, Chellamani Harini, Phillip L Pearl, Annapurna H Poduri, Darius Ebrahimi-Fakhari
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. Annals of clinical and translational neurology 11 (6) (2024)
Afshin Saffari, Barbara Brechmann, Cedric Böger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye, Delaney Wood, Lara Wahlster, Julian E Alecu, Marvin Ziegler, Marlene Scheffold, Kellen Winden, Jed Hubbs, Elizabeth D Buttermore, Lee Barrett, Georg H H Borner, Alexandra K Davies, Darius Ebrahimi-Fakhari, Mustafa Sahin
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 15 (1) (2024)
Shyam K Akula, Vicente Quiroz, Alissa M D'Gama, Michelle Y Chiu, Hyun Yong Koh, Afshin Saffari, Zainab Zaman, Amy Tam, Rasha Srouji, Rozalia Valentine, Kimberly Wiltrout, Anna Pinto, Chellamani Harini, Phillip L Pearl, Annapurna H Poduri, Darius Ebrahimi-Fakhari
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. Annals of clinical and translational neurology 11 (6) (2024)
Afshin Saffari, Barbara Brechmann, Cedric Böger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye, Delaney Wood, Lara Wahlster, Julian E Alecu, Marvin Ziegler, Marlene Scheffold, Kellen Winden, Jed Hubbs, Elizabeth D Buttermore, Lee Barrett, Georg H H Borner, Alexandra K Davies, Darius Ebrahimi-Fakhari, Mustafa Sahin
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 15 (1) (2024)
Lindsey M Vogt, Kathryn Yang, Gabriel Tse, Vicente Quiroz, Zainab Zaman, Laura Wang, Rasha Srouji, Amy Tam, Elicia Estrella, Shannon Manzi, Alfonso Fasano, Weston T Northam, Scellig Stone, Mahendranath Moharir, Hernan Gonorazky, Brian McAlvin, Monica Kleinman, Kerri L LaRovere, Carolina Gorodetsky, Darius Ebrahimi-Fakhari
Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus. Movement disorders : official journal of the Movement Disorder Society (2024)
Shyam K Akula, Vicente Quiroz, Alissa M D'Gama, Michelle Y Chiu, Hyun Yong Koh, Afshin Saffari, Zainab Zaman, Amy Tam, Rasha Srouji, Rozalia Valentine, Kimberly Wiltrout, Anna Pinto, Chellamani Harini, Phillip L Pearl, Annapurna H Poduri, Darius Ebrahimi-Fakhari
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. Annals of clinical and translational neurology 11 (6) (2024)
Maria Novelli, Manuela Tolve, Vicente Quiroz, Claudia Carducci, Rossella Bove, Giacomina Ricciardi, Kathryn Yang, Filippo Manti, Francesco Pisani, Darius Ebrahimi-Fakhari, Serena Galosi, Vincenzo Leuzzi
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes. Movement disorders clinical practice (2024)
Afshin Saffari, Barbara Brechmann, Cedric Böger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye, Delaney Wood, Lara Wahlster, Julian E Alecu, Marvin Ziegler, Marlene Scheffold, Kellen Winden, Jed Hubbs, Elizabeth D Buttermore, Lee Barrett, Georg H H Borner, Alexandra K Davies, Darius Ebrahimi-Fakhari, Mustafa Sahin
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 15 (1) (2024)
Afshin Saffari, Barbara Brechmann, Cedric Böger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye, Delaney Wood, Lara Wahlster, Julian E Alecu, Marvin Ziegler, Marlene Scheffold, Kellen Winden, Jed Hubbs, Elizabeth D Buttermore, Lee Barrett, Georg H H Borner, Alexandra K Davies, Darius Ebrahimi-Fakhari, Mustafa Sahin
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 15 (1) (2024)
Shyam K Akula, Vicente Quiroz, Alissa M D'Gama, Michelle Y Chiu, Hyun Yong Koh, Afshin Saffari, Zainab Zaman, Amy Tam, Rasha Srouji, Rozalia Valentine, Kimberly Wiltrout, Anna Pinto, Chellamani Harini, Phillip L Pearl, Annapurna H Poduri, Darius Ebrahimi-Fakhari
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. Annals of clinical and translational neurology (2024)
Shyam K Akula, Vicente Quiroz, Alissa M D'Gama, Michelle Y Chiu, Hyun Yong Koh, Afshin Saffari, Zainab Zaman, Amy Tam, Rasha Srouji, Rozalia Valentine, Kimberly Wiltrout, Anna Pinto, Chellamani Harini, Phillip L Pearl, Annapurna H Poduri, Darius Ebrahimi-Fakhari
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. Annals of clinical and translational neurology 11 (6) (2024)
Shyam K Akula, Vicente Quiroz, Alissa M D'Gama, Michelle Y Chiu, Hyun Yong Koh, Afshin Saffari, Zainab Zaman, Amy Tam, Rasha Srouji, Rozalia Valentine, Kimberly Wiltrout, Anna Pinto, Chellamani Harini, Phillip L Pearl, Annapurna H Poduri, Darius Ebrahimi-Fakhari
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. Annals of clinical and translational neurology 11 (6) (2024)
Afshin Saffari, Barbara Brechmann, Cedric Böger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye, Delaney Wood, Lara Wahlster, Julian E Alecu, Marvin Ziegler, Marlene Scheffold, Kellen Winden, Jed Hubbs, Elizabeth D Buttermore, Lee Barrett, Georg H H Borner, Alexandra K Davies, Darius Ebrahimi-Fakhari, Mustafa Sahin
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 15 (1) (2024)
Afshin Saffari, Barbara Brechmann, Cedric Böger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye, Delaney Wood, Lara Wahlster, Julian E Alecu, Marvin Ziegler, Marlene Scheffold, Kellen Winden, Jed Hubbs, Elizabeth D Buttermore, Lee Barrett, Georg H H Borner, Alexandra K Davies, Darius Ebrahimi-Fakhari, Mustafa Sahin
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 15 (1) (2024)
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Sandra Whalen, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Benedikt Schoser, Sebastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Hallie E Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Chrisodoulou, Wendy K Chung, Rose E Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Suri Mohnish, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology (2023)
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Sandra Whalen, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Benedikt Schoser, Sebastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Hallie E Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Chrisodoulou, Wendy K Chung, Rose E Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Suri Mohnish, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology (2023)
Tamara M Pringsheim, Amit Batla, Ali Shalash, Jitendra Kumar Sahu, Carlos Cosentino, Darius Ebrahimi-Fakhari, Jennifer Friedman, Jean-Pierre Lin, Jonathan W Mink, Alexander Münchau, Daniela Munoz, Nardo Nardocci, Belen Perez-Duenas, Zomer Sardar, Chahnez Charfi Triki, Hilla Ben-Pazi, Laura Silveira-Moriyama, Monica Troncoso-Schifferli, Kyoko Hoshino, Russell C Dale, Victor S C Fung, Manju A Kurian, Emmanuel Roze
Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics. Movement disorders clinical practice 10 (5) (2023)
Tamara M Pringsheim, Amit Batla, Ali Shalash, Jitendra Kumar Sahu, Carlos Cosentino, Darius Ebrahimi-Fakhari, Jennifer Friedman, Jean-Pierre Lin, Jonathan W Mink, Alexander Münchau, Daniela Munoz, Nardo Nardocci, Belen Perez-Duenas, Zomer Sardar, Chahnez Charfi Triki, Hilla Ben-Pazi, Laura Silveira-Moriyama, Monica Troncoso-Schifferli, Kyoko Hoshino, Russell C Dale, Victor S C Fung, Manju A Kurian, Emmanuel Roze
Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics. Movement disorders clinical practice 10 (5) (2023)
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Sandra Whalen, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Benedikt Schoser, Sebastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Hallie E Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Chrisodoulou, Wendy K Chung, Rose E Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Suri Mohnish, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology (2023)
Afshin Saffari, Barbara Brechmann, Cedric Boeger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye, Delaney Wood, Lara Wahlster, Julian Alecu, Marvin Ziegler, Marlene Scheffold, Kellen Winden, Jed Hubbs, Elizabeth D Buttermore, Lee Barrett, Georg H H Borner, Alexandra K Davies, Mustafa Sahin, Darius Ebrahimi-Fakhari
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. Research square (2023)
Tamara M Pringsheim, Amit Batla, Ali Shalash, Jitendra Kumar Sahu, Carlos Cosentino, Darius Ebrahimi-Fakhari, Jennifer Friedman, Jean-Pierre Lin, Jonathan W Mink, Alexander Münchau, Daniela Munoz, Nardo Nardocci, Belen Perez-Duenas, Zomer Sardar, Chahnez Charfi Triki, Hilla Ben-Pazi, Laura Silveira-Moriyama, Monica Troncoso-Schifferli, Kyoko Hoshino, Russell C Dale, Victor S C Fung, Manju A Kurian, Emmanuel Roze
Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics. Movement disorders clinical practice 10 (5) (2023)
Julian Emanuel Alecu, Afshin Saffari, Marvin Ziegler, Catherine Jordan, Amy Tam, Soyoung Kim, Edward Leung, Krzysztof Szczaluba, Hanna Mierzewska, Staci D King, Filippo M Santorelli, Grace Yoon, Bianca Trombetta, Pia Kivisäkk, Bo Zhang, Mustafa Sahin, Darius Ebrahimi-Fakhari
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia. Movement disorders : official journal of the Movement Disorder Society (2023)
Afshin Saffari, Darius Ebrahimi-Fakhari
Reply to: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Movement disorders : official journal of the Movement Disorder Society 38 (5) (2023)
Zainab Zaman, Nadine Straka, Anna L Pinto, Rasha Srouji, Amy Tam, Uvaraj Periasamy, Scellig Stone, Monica Kleinman, Weston T Northam, Darius Ebrahimi-Fakhari
Deep brain stimulation for medically refractory status dystonicus in UBA5-related disorder. Movement disorders : official journal of the Movement Disorder Society (2023)
Avaneesh R Kunta, Jeremy Jueng, Catherine Jordan, Jasna Kojic, Alisa Mo, Darius Ebrahimi-Fakhari
Blended Phenotype of Prader-Willi Syndrome and HSP- SPG11 Caused by Maternal Uniparental Isodisomy. Neurology. Genetics 8 (6) (2022)
Lara M Lange, Paulina Gonzalez-Latapi, Rajasumi Rajalingam, Marina A J Tijssen, Darius Ebrahimi-Fakhari, Carolin Gabbert, Christos Ganos, Rhia Ghosh, Kishore Raj Kumar, Anthony E Lang, Marcelo Merello, Sterre van der Veen, Bart van de Warrenburg, Tom Warner, Katja Lohmann, Christine Klein, Connie Marras, null null
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update. Movement disorders : official journal of the Movement Disorder Society 37 (5) (2022)
Julian Emanuel Alecu, Yuhsuke Ohmi, Robiul H Bhuiyan, Kei-Ichiro Inamori, Takahiro Nitta, Afshin Saffari, Hellen Jumo, Marvin Ziegler, Claudio Melo de Gusmao, Nutan Sharma, Shiho Ohno, Noriyoshi Manabe, Yoshiki Yamaguchi, Mariko Kambe, Keiko Furukawa, Mustafa Sahin, Jin-Ichi Inokuchi, Koichi Furakawa, Darius Ebrahimi-Fakhari
Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis. American journal of medical genetics. Part A 188 (9) (2022)
Carolina Alvarez, Mona Grimmel, Darius Ebrahimi-Fakhari, Victoria Paul, Natalie Deininger, Angelika Riess, Tobias Haack, Elena Gardella, Rikke Møller, Allan Bayat
Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder. Clinical genetics (2022)
Julian Emanuel Alecu, Afshin Saffari, Hellen Jumo, Marvin Ziegler, Oleksandr Strelko, Catherine A Brownstein, Joseph Gonzalez-Heydrich, Lance H Rodan, Mark P Gorman, Mustafa Sahin, Darius Ebrahimi-Fakhari
Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis. Annals of clinical and translational neurology 9 (4) (2022)
Julian Emanuel Alecu, Afshin Saffari, Catherine Jordan, Siddharth Srivastava, Craig Blackstone, Darius Ebrahimi-Fakhari
De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations. Human molecular genetics (2022)
Maya Chopra, Dustin L Gable, Jamie Love-Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz, Elizabeth Barkoudah, Lucia Bastianelli, David Coulter, Emily Davidson, Claudio M De Gusmao, David Fogelman, Kathleen Huth, Paige Marshall, Donna Nimec, Jessica Solomon Sanders, Benjamin J Shore, Brian Snyder, Scellig S D Stone, Ana Ubeda, Colyn Watkins, Charles Berde, Jeffrey Bolton, Catherine Brownstein, Michael Costigan, Darius Ebrahimi-Fakhari, Abbe Lai, Anne O'Donnell-Luria, Alex R Paciorkowski, Anna Pinto, John Pugh, Lance Rodan, Eugene Roe, Lindsay Swanson, Bo Zhang, Michael C Kruer, Mustafa Sahin, Annapurna H Poduri, Siddharth Srivastava
Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Annals of clinical and translational neurology 9 (2) (2022)
Alisa Mo, Afshin Saffari, Melanie Kellner, Marion Döbler-Neumann, Catherine Jordan, Siddharth Srivastava, Bo Zhang, Mustafa Sahin, John K Fink, Linsley Smith, Jennifer E Posey, Katharine E Alter, Camilo Toro, Craig Blackstone, Ariane G Soldatos, Michelle Christie, Rebecca Schüle, Darius Ebrahimi-Fakhari
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Movement disorders : official journal of the Movement Disorder Society (2022)
Afshin Saffari, Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang, Oleksandr Strelko, Sonja Neuser, Marie Y Davis, Nobuaki Yoshikura, Naonobu Futamura, Tomoya Takeuchi, Shin Nabatame, Hiroyuki Ishiura, Shoji Tsuji, Huda Shujaa Aldeen, Elisa Cali, Clarissa Rocca, Henry Houlden, Stephanie Efthymiou, null null, Birgit Assmann, Grace Yoon, Bianca A Trombetta, Pia Kivisäkk, Florian S Eichler, Haitian Nan, Yoshihisa Takiyama, Alessandra Tessa, Filippo Maria Santorelli, Mustafa Sahin, C Shan Xu, Edward Yang, Rebecca Schüle, Darius Ebrahimi-Fakhari
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. Brain : a journal of neurology (2022)
Avaneesh R Kunta, Jeremy Jueng, Catherine Jordan, Jasna Kojic, Alisa Mo, Darius Ebrahimi-Fakhari
Blended Phenotype of Prader-Willi Syndrome and HSP- SPG11 Caused by Maternal Uniparental Isodisomy. Neurology. Genetics 8 (6) (2022)
Dustin L Gable, Alisa Mo, Elicia Estrella, Afshin Saffari, Partha S Ghosh, Darius Ebrahimi-Fakhari
Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants. American journal of medical genetics. Part A 188 (12) (2022)
Alexandra K Davies, Julian Emanuel Alecu, Marvin Ziegler, Catherine G Vasilopoulou, Fabrizio Merciai, Hellen Jumo, Wardiya Afshar Saber, Mustafa Sahin, Darius Ebrahimi-Fakhari, Georg H H Borner
AP-4-mediated axonal transport controls endocannabinoid production in neurons. Nature communications 13 (1) (2022)
Avaneesh R Kunta, Jeremy Jueng, Catherine Jordan, Jasna Kojic, Alisa Mo, Darius Ebrahimi-Fakhari
Blended Phenotype of Prader-Willi Syndrome and HSP- SPG11 Caused by Maternal Uniparental Isodisomy. Neurology. Genetics 8 (6) (2022)
Avaneesh R Kunta, Jeremy Jueng, Catherine Jordan, Jasna Kojic, Alisa Mo, Darius Ebrahimi-Fakhari
Blended Phenotype of Prader-Willi Syndrome and HSP- SPG11 Caused by Maternal Uniparental Isodisomy. Neurology. Genetics 8 (6) (2022)
Afshin Saffari, Julian Schröter, Sven F Garbade, Julian Emanuel Alecu, Darius Ebrahimi-Fakhari, Georg F Hoffmann, Stefan Kölker, Markus Ries, Steffen Syrbe
Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases. Autophagy (2021)
Darius Ebrahimi-Fakhari, Julian Emanuel Alecu, Marvin Ziegler, Gregory Geisel, Catherine Jordan, Angelica D'Amore, Rebecca C Yeh, Shyam K Akula, Afshin Saffari, Sanjay P Prabhu, Mustafa Sahin, Edward Yang, null null
Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia. Neurology 97 (19) (2021)
Margaret C Savage, Agnieszka Kielian, Christopher Elitt, Jurriaan M Peters, Darius Ebrahimi-Fakhari
Startle Epilepsy Triggered By Maternal Cough. Neuropediatrics 52 (4) (2021)
Reza Maroofian, Andrea Gubas, Rauan Kaiyrzhanov, Marcello Scala, Khalid Hundallah, Mariasavina Severino, Mohamed S Abdel-Hamid, Jill Anne Rosenfeld, Darius Ebrahimi-Fakhari, Zahir Ali, Fazal Rahim, Henry Houlden, Sharon A Tooze, Norah S Alsaleh, Maha S Zaki
Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course. Brain communications 3 (3) (2021)
Sonja Neuser, Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O'Grady, Michael Zech, Siddharth Srivastava, David A Sweetser, Yasemin Dincer, Volker Mall, Juliane Winkelmann, Christian Behrends, Basil T Darras, Robert J Graham, Parul Jayakar, Barry Byrne, Bat El Bar-Aluma, Yael Haberman, Amir Szeinberg, Hesham M Aldhalaan, Mais Hashem, Amal Al Tenaiji, Omar Ismayl, Asma E Al Nuaimi, Karima Maher, Shahnaz Ibrahim, Fatima Khan, Henry Houlden, Vijayalakshmi S Ramakumaran, Alistair T Pagnamenta, Jennifer E Posey, James R. Lupski, Wen-Hann Tan, Gehad ElGhazali, Isabella Herman, Tatiana Muñoz, Gabriela M Repetto, Angelika Seitz, Mandy Krumbiegel, Maria Cecilia Poli, Usha Kini, Stephanie Efthymiou, Jens Meiler, Reza Maroofian, Fowzan Sami Alkuraya, Rami Abou Jamra, Bernt Popp, Bruria Ben-Zeev, Darius Ebrahimi-Fakhari
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Human mutation 42 (6) (2021)
Catherine Jordan, Gregory Geisel, Julian Emanuel Alecu, Bo Zhang, Mustafa Sahin, Darius Ebrahimi-Fakhari
Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia. Neurology. Genetics 7 (4) (2021)
Darius Ebrahimi-Fakhari, Julian E Alecu, Barbara Brechmann, Marvin Ziegler, Kathrin Eberhardt, Hellen Jumo, Angelica D'Amore, Parham Habibzadeh, Mohammad Ali Faghihi, Jan L De Bleecker, Sandrine Vuillaumier-Barrot, Stėphane Auvin, Filippo M Santorelli, Sonja Neuser, Bernt Popp, Edward Yang, Lee Barrett, Alexandra K Davies, Afshin Saffari, Jennifer Hirst, Mustafa Sahin
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia. Brain communications 3 (4) (2021)
Marvin Ziegler, Bianca E Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I Kornblum, Darius Ebrahimi-Fakhari
Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. Neurology. Genetics 7 (1) (2020)
Angelica D'Amore, Alessandra Tessa, Valentina Naef, Maria Teresa Bassi, Andrea Citterio, Romina Romaniello, Gianluca Fichi, Daniele Galatolo, Serena Mero, Roberta Battini, Giulia Bertocci, Jacopo Baldacci, Federico Sicca, Federica Gemignani, Ivana Ricca, Anna Rubegni, Jennifer Hirst, Maria Marchese, Mustafa Sahin, Darius Ebrahimi-Fakhari, Filippo Maria Santorelli
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52. Annals of clinical and translational neurology 7 (4) (2020)
Inês do Carmo G Gonçalves, Johanna Brecht, Maximilian Paul Thelen, Wiebke A Rehorst, Miriam Peters, Hyun Ju Lee, Susanne Motameny, Laura Torres-Benito, Darius Ebrahimi-Fakhari, Natalia L Kononenko, Janine Altmüller, David Vilchez, Mustafa Sahin, Brunhilde Wirth, Min Jeong Kye
Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Scientific reports 10 (1) (2020)
Siddharth Srivastava, Angelica D'Amore, Julie S Cohen, Lindsay C Swanson, Ivana Ricca, Antonella Pini, Ali Fatemi, Darius Ebrahimi-Fakhari, Filippo Maria Santorelli
Expansion of the genetic landscape of ERLIN2-related disorders. Annals of clinical and translational neurology 7 (4) (2020)
Darius Ebrahimi-Fakhari, Alexander Münchau, Maria Stamelou
A special issue on childhood-onset movement disorders. Movement disorders : official journal of the Movement Disorder Society 34 (5) (2019)
Julian Teinert, Robert Behne, Miriam Wimmer, Darius Ebrahimi-Fakhari
Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy. Journal of inherited metabolic disease 43 (1) (2019)
Megan S Kane, Jia Zhao, Julie Muskett, Amelia Diplock, Siddharth Srivastava, Natalie Hauser, John F Deeken, John E Niederhuber, Wendy E Smith, Thierry Vilboux, Darius Ebrahimi-Fakhari
EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome. Neuropediatrics 50 (4) (2019)
Inês do Carmo G Gonçalves, Johanna Brecht, Maximilian Paul Thelen, Wiebke A Rehorst, Miriam Peters, Hyun Ju Lee, Susanne Motameny, Laura Torres-Benito, Darius Ebrahimi-Fakhari, Natalia L Kononenko, Janine Altmüller, David Vilchez, Mustafa Sahin, Brunhilde Wirth, Min Jeong Kye
Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Scientific reports 8 (1) (2018)
Inês do Carmo G Gonçalves, Johanna Brecht, Maximilian Paul Thelen, Wiebke A Rehorst, Miriam Peters, Hyun Ju Lee, Susanne Motameny, Laura Torres-Benito, Darius Ebrahimi-Fakhari, Natalia L Kononenko, Janine Altmüller, David Vilchez, Mustafa Sahin, Brunhilde Wirth, Min Jeong Kye
Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Scientific reports 8 (1) (2018)
Darius Ebrahimi-Fakhari, Clara Van Karnebeek, Alexander Münchau
Movement Disorders in Treatable Inborn Errors of Metabolism. Movement disorders : official journal of the Movement Disorder Society 34 (5) (2018)
Darius Ebrahimi-Fakhari, Chi Cheng, Kira Dies, Amelia Diplock, Danielle B Pier, Conor S Ryan, Brendan C Lanpher, Jennifer Hirst, Wendy K Chung, Mustafa Sahin, Elisabeth Rosser, Basil Darras, James T Bennett, null null
Clinical and genetic characterization of AP4B1-associated SPG47. American journal of medical genetics. Part A 176 (2) (2017)
Afshin Saffari, Stefan Kölker, Georg F Hoffmann, Darius Ebrahimi-Fakhari
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases. Journal of inherited metabolic disease 40 (5) (2017)
Duyu A Nie, Zehua Chen, Darius Ebrahimi-Fakhari, Alessia Di Nardo, Kristina Julich, Victoria R Bradford, Yung-Chih Cheng, Clifford J Woolf, Myriam Heiman, Mustafa Sahin
The Stress-Induced Atf3-Gelsolin Cascade Underlies Dendritic Spine Deficits in Neuronal Models of Tuberous Sclerosis Complex. The Journal of neuroscience : the official journal of the Society for Neuroscience 35 (30) (2015)

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Darius Ebrahimi-Fakhari