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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 3
Zeitschriftenartikel
Neuser, Sonja; Brechmann, Barbara; Heimer, Gali; Broesse, Ines; Schubert, Susanna; O'Grady, Lauren; Zech, Michael; Srivastava, Siddharth; Sweetser, David A.; Dincer, Yasemin; Mall, Volker; Winkelmann, Juliane; Behrends, Christian; Darras, Basil T.; Graham, Robert J.; Jayakar, Parul; Byrne, Barry; Bar-Aluma, Bat El; Haberman, Yael; Szeinberg, Amir; Aldhalaan, Hesham M.; Hashem, Mais; Al Tenaiji, Amal; Ismayl, Omar; Al Nuaimi, Asma E.; Maher, Karima; Ibrahim, Shahnaz; Khan, Fatima; Houlden, Henry; Ramakumaran, Vijayalakshmi S.; Pagnamenta, Alistair T.; Posey, Jennifer E.; Lupski, James R.; Tan, Wen-Hann; ElGhazali, Gehad; Herman, Isabella; Munoz, Tatiana; Repetto, Gabriela M.; Seitz, Angelika; Krumbiegel, Mandy; Poli, Maria Cecilia; Kini, Usha; Efthymiou, Stephanie; Meiler, Jens; Maroofian, Reza; Alkuraya, Fowzan S.; Abou Jamra, Rami; Popp, Bernt; Ben-Zeev, Bruria und Ebrahimi-Fakhari, Darius
(2021):
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
In: Human Mutation, Bd. 42, Nr. 6: S. 762-776
[PDF, 3MB]
Tamim-Yecheskel, Bat-Chen; Fraiberg, Milana; Kokabi, Kamilya; Freud, Saskia; Shatz, Oren; Marvaldi, Letizia; Subic, Nemanja; Brenner, Ori; Tsoory, Michael; Eilam-Altstadter, Raya; Biton, Inbal; Savidor, Alon; Dezorella, Nili; Heimer, Gali; Behrends, Christian; Ben-Zeev, Bruria und Elazar, Zvulun
(2020):
A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation.
In: Autophagy
Fraiberg, Milana; Tamim-Yecheskel, Bat-Chen; Kokabi, Kamilya; Subic, Nemanja; Heimer, Gali; Eck, Franziska; Nalbach, Karsten; Behrends, Christian; Ben-Zeev, Bruria; Shatz, Oren und Elazar, Zvulun
(2020):
Lysosomal targeting of autophagosomes by the TECPR domain of TECPR2.
In: Autophagy