Search Results - Ebrahimi-Fakhari, Darius

Refine Results
  1. 1
    Cover Image

    An update on autophagy disorders by Dafsari, Hormos Salimi (Author) , Martinelli, Diego (Author) , Saffari, Afshin (Author) , Ebrahimi-Fakhari, Darius (Author) , Fanto, Manolis (Author) , Dionisi-Vici, Carlo (Author) , Jungbluth, Heinz (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  2. 2
    Cover Image

    The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome by Akula, Shyam K. (Author) , Quiroz, Vicente (Author) , D'Gama, Alissa M. (Author) , Chiu, Michelle Y. (Author) , Koh, Hyun Yong (Author) , Saffari, Afshin (Author) , Zaman, Zainab (Author) , Tam, Amy (Author) , Srouji, Rasha (Author) , Valentine, Rozalia (Author) , Wiltrout, Kimberly (Author) , Pinto, Anna (Author) , Harini, Chellamani (Author) , Pearl, Phillip L. (Author) , Poduri, Annapurna (Author) , Ebrahimi-Fakhari, Darius (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  3. 3
    Cover Image

    The GENESIS database and tools: A decade of discovery in Mendelian genomics by Danzi, Matt (Author) , Powell, Eric (Author) , Rebelo, Adriana P. (Author) , Dohrn, Maike F. (Author) , Beijer, Danique (Author) , Fazal, Sarah (Author) , Xu, Isaac R. L. (Author) , Medina, Jessica (Author) , Chen, Sitong (Author) , Arcia de Jesus, Yeisha (Author) , Schatzman, Jacquelyn (Author) , Hershberger, Ray E. (Author) , Saporta, Mario (Author) , Baets, Jonathan (Author) , Falk, Marni (Author) , Herrmann, David N. (Author) , Scherer, Steven S. (Author) , Reilly, Mary M. (Author) , Cortese, Andrea (Author) , Marques, Wilson (Author) , Cornejo-Olivas, Mario R. (Author) , Sanmaneechai, Oranee (Author) , Kennerson, Marina L. (Author) , Jordanova, Albena (Author) , Silva, Thiago Y. T. (Author) , Pedroso, Jose Luiz (Author) , Schierbaum, Luca (Author) , Ebrahimi-Fakhari, Darius (Author) , Peric, Stojan (Author) , Lee, Yi-Chung (Author) , Synofzik, Matthis (Author) , Tekin, Mustafa (Author) , Ravenscroft, Gianina (Author) , Shy, Mike (Author) , Basak, Nazli (Author) , Schüle-Freyer, Rebecca (Author) , Zuchner, Stephan (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  4. 4
    Cover Image

    Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47 by Wiseman, Jessica P. (Author) , Scarrott, Joseph M (Author) , Alves-Cruzeiro, João (Author) , Saffari, Afshin (Author) , Böger, Cedric (Author) , Karyka, Evangelia (Author) , Dawes, Emily (Author) , Davies, Alexandra K (Author) , Marchi, Paolo M (Author) , Graves, Emily (Author) , Fernandes, Fiona (Author) , Yang, Zih-Liang (Author) , Coldicott, Ian (Author) , Hirst, Jennifer (Author) , Webster, Christopher P (Author) , Highley, J Robin (Author) , Hackett, Neil (Author) , Angyal, Adrienn (Author) , Silva, Thushan de (Author) , Higginbottom, Adrian (Author) , Shaw, Pamela J (Author) , Ferraiuolo, Laura (Author) , Ebrahimi-Fakhari, Darius (Author) , Azzouz, Mimoun (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  5. 5
    Cover Image

    The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15 by Saffari, Afshin (Author) , Kellner, Melanie (Author) , Jordan, Catherine (Author) , Rosengarten, Helena (Author) , Mo, Alisa (Author) , Zhang, Bo (Author) , Strelko, Oleksandr (Author) , Neuser, Sonja Anna (Author) , Davis, Marie Y (Author) , Yoshikura, Nobuaki (Author) , Futamura, Naonobu (Author) , Takeuchi, Tomoya (Author) , Nabatame, Shin (Author) , Ishiura, Hiroyuki (Author) , Tsuji, Shoji (Author) , Aldeen, Huda Shujaa (Author) , Cali, Elisa (Author) , Rocca, Clarissa (Author) , Houlden, Henry (Author) , Efthymiou, Stephanie (Author) , Assmann, Birgit (Author) , Yoon, Grace (Author) , Trombetta, Bianca A (Author) , Kivisäkk, Pia (Author) , Eichler, Florian (Author) , Nan, Haitian (Author) , Takiyama, Yoshihisa (Author) , Tessa, Alessandra (Author) , Santorelli, Filippo M (Author) , Sahin, Mustafa (Author) , Blackstone, Craig (Author) , Yang, Edward (Author) , Schüle-Freyer, Rebecca (Author) , Ebrahimi-Fakhari, Darius (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  6. 6
    Cover Image

    Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy: a systematic cross-sectional analysis of 160 published cases by Saffari, Afshin (Author) , Schröter, Julian (Author) , Garbade, Sven (Author) , Alecu, Julian E. (Author) , Ebrahimi-Fakhari, Darius (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Ries, Markus (Author) , Syrbe, Steffen (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  7. 7
    Cover Image

    Childhood-onset hereditary spastic paraplegia and its treatable mimics by Ebrahimi-Fakhari, Darius (Author) , Saffari, Afshin (Author) , Pearl, Phillip L. (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  8. 8
    Cover Image

    Blended phenotype of Silver-Russell Syndrome and SPG50 caused by maternal isodisomy of chromosome 7 by Ziegler, Marvin (Author) , Russell, Bianca E. (Author) , Eberhardt, Kathrin (Author) , Geisel, Gregory (Author) , D'Amore, Angelica (Author) , Sahin, Mustafa (Author) , Kornblum, Harley I. (Author) , Ebrahimi-Fakhari, Darius (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  9. 9
    Cover Image

    Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia by Ebrahimi-Fakhari, Darius (Author) , Saffari, Afshin (Author) , Ziegler, Andreas (Author) , Kölker, Stefan (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  10. 10
    Cover Image

    Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases by Saffari, Afshin (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Ebrahimi-Fakhari, Darius (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  11. 11
    Cover Image

    Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons by Ebrahimi-Fakhari, Darius (Author) , Saffari, Afshin (Author) , Wahlster, Lara (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  12. 12
    Cover Image

    Impaired mitochondrial dynamics and mitophagy in neuronal models of tuberous sclerosis complex by Ebrahimi-Fakhari, Darius (Author) , Saffari, Afshin (Author) , Wahlster, Lara (Author) , Kölker, Stefan (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  13. 13
    Cover Image

    Molecular chaperones and protein folding as therapeutic targets in Parkinson’s disease and other synucleinopathies by Ebrahimi-Fakhari, Darius (Author) , Wahlster, Lara (Author) ,

    BioMed Central 2016

    Get full text
    Article (Journal) Book/Monograph Online Resource


    Saved in:
  14. 14
    Cover Image

    Impaired mitochondrial dynamics and mitophagy in neuronal models of tuberous sclerosis complex by Ebrahimi-Fakhari, Darius (Author) , Saffari, Afshin (Author) , Wahlster, Lara (Author) , Di Nardo, Alessia (Author) , Turner, Daria (Author) , Lewis, Tommy L. (Author) , Conrad, Christopher (Author) , Rothberg, Jonathan M. (Author) , Lipton, Jonathan O. (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Han, Min-Joon (Author) , Polleux, Franck (Author) , Sahin, Mustafa (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  15. 15
    Cover Image

    Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism by Ebrahimi-Fakhari, Darius (Author) , Saffari, Afshin (Author) , Wahlster, Lara (Author) , Lu, Jenny (Author) , Byrne, Susan (Author) , Hoffmann, Georg F. (Author) , Jungbluth, Heinz (Author) , Sahin, Mustafa (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  16. 16
    Cover Image

    Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells by Ebrahimi-Fakhari, Darius (Author) , Wahlster, Lara (Author) , Bartz, Fabian (Author) , Werenbeck-Ueding, Jennifer (Author) , Praggastis, Maria (Author) , Zhang, Jessie (Author) , Joggerst-Thomalla, Brigitte (Author) , Theiß, Susanne (Author) , Grimm, Dirk (Author) , Ory, Daniel S. (Author) , Runz, Heiko (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  17. 17
    Cover Image

    Nomenclature of genetic movement disorders: recommendations of the international Parkinson and movement disorder society task force by Marras, Connie (Author) , Lang, Anthony (Author) , Warrenburg, Bart P. van de (Author) , Sue, Carolyn M. (Author) , Tabrizi, Sarah J. (Author) , Bertram, Lars (Author) , Mercimek‐Mahmutoglu, Saadet (Author) , Ebrahimi-Fakhari, Darius (Author) , Warner, Thomas T. (Author) , Durr, Alexandra (Author) , Assmann, Birgit (Author) , Lohmann, Katja (Author) , Kostic, Vladimir (Author) , Klein, Christine (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  18. 18
    Cover Image

    Reply letter to Jinnah “Locus pocus” and Albanese “Complex dystonia is not a category in the new 2013 consensus classification”: Necessary evolution, no magic! by Klein, Christine (Author) , Lang, Anthony (Author) , Warrenburg, Bart P. van de (Author) , Sue, Carolyn M. (Author) , Tabrizi, Sarah J. (Author) , Bertram, Lars (Author) , Mercimek‐Mahmutoglu, Saadet (Author) , Ebrahimi-Fakhari, Darius (Author) , Warner, Thomas T. (Author) , Durr, Alexandra (Author) , Assmann, Birgit (Author) , Kostic, Vladimir (Author) , Lohmann, Katja (Author) , Marras, Connie (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  19. 19
    Cover Image

    Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) by Klionsky, Daniel (Author) , Oehme, Ina (Author) , Hamacher-Brady, Anne (Author) , Rasse, Tobias M. (Author) , Schuck, Sebastian (Author) , Ebrahimi-Fakhari, Darius (Author) , Fortunato, Franco (Author) , Lemberg, Marius (Author) , Parlato, Rosanna (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  20. 20
    Cover Image

    EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy by Byrne, Susan (Author) , Kölker, Stefan (Author) , Ebrahimi-Fakhari, Darius (Author) , Hoffmann, Georg F. (Author) , Pilz, Daniela (Author) , Schara, Ulrike (Author) , Zenker, Martin (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:

Search Tools: