Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy
Walsh, Melissa B, Janzen, Eva, Wingrove, Emily, Hosseinibarkooie, Seyyedmohsen, Muela, Natalia Rodriguez, Davidow, Lance, Dimitriadi, Maria, Norabuena, Erika M, Rubin, Lee L, Wirth, Brunhilde, Hart, Anne C
Published in BMC biology (16.09.2020)
Published in BMC biology (16.09.2020)
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Central synaptopathy is the most conserved feature of motor circuit pathology across spinal muscular atrophy mouse models
Buettner, Jannik M., Sime Longang, Josiane K., Gerstner, Florian, Apel, Katharina S., Blanco-Redondo, Beatriz, Sowoidnich, Leonie, Janzen, Eva, Langenhan, Tobias, Wirth, Brunhilde, Simon, Christian M.
Published in iScience (19.11.2021)
Published in iScience (19.11.2021)
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Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
Mendoza-Ferreira, Natalia, Coutelier, Marie, Janzen, Eva, Hosseinibarkooie, Seyyedmohsen, Löhr, Heiko, Schneider, Svenja, Milbradt, Janine, Karakaya, Mert, Riessland, Markus, Pichlo, Christian, Torres-Benito, Laura, Singleton, Andrew, Zuchner, Stephan, Brice, Alexis, Durr, Alexandra, Hammerschmidt, Matthias, Stevanin, Giovanni, Wirth, Brunhilde
Published in Neurology. Genetics (01.02.2018)
Published in Neurology. Genetics (01.02.2018)
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The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype
Hosseinibarkooie, Seyyedmohsen, Peters, Miriam, Torres-Benito, Laura, Rastetter, Raphael H., Hupperich, Kristina, Hoffmann, Andrea, Mendoza-Ferreira, Natalia, Kaczmarek, Anna, Janzen, Eva, Milbradt, Janine, Lamkemeyer, Tobias, Rigo, Frank, Bennett, C. Frank, Guschlbauer, Christoph, Büschges, Ansgar, Hammerschmidt, Matthias, Riessland, Markus, Kye, Min Jeong, Clemen, Christoph S., Wirth, Brunhilde
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis
Janzen, Eva, Mendoza-Ferreira, Natalia, Hosseinibarkooie, Seyyedmohsen, Schneider, Svenja, Hupperich, Kristina, Tschanz, Theresa, Grysko, Vanessa, Riessland, Markus, Hammerschmidt, Matthias, Rigo, Frank, Bennett, C Frank, Kye, Min Jeong, Torres-Benito, Laura, Wirth, Brunhilde
Published in Brain (London, England : 1878) (01.08.2018)
Published in Brain (London, England : 1878) (01.08.2018)
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