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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 4
2024
Figueroa, Karla P.; Gross, Caspar 
ORCID: https://orcid.org/0000-0002-9009-5458; Buena-Atienza, Elena ORCID: https://orcid.org/0000-0002-9890-1960; Paul, Sharan; Gandelman, Mandi; Kakar, Naseebullah; Sturm, Marc ORCID: https://orcid.org/0000-0002-6552-8362; Casadei, Nicolas; Admard, Jakob ORCID: https://orcid.org/0000-0003-0466-582X; Park, Joohyun; Zühlke, Christine; Hellenbroich, Yorck; Pozojevic, Jelena; Balachandran, Saranya ORCID: https://orcid.org/0009-0002-4905-3093; Händler, Kristian ORCID: https://orcid.org/0000-0001-5273-5277; Zittel, Simone ORCID: https://orcid.org/0000-0002-3767-6376; Timmann, Dagmar; Erdlenbruch, Friedrich ORCID: https://orcid.org/0009-0006-0654-836X; Herrmann, Laura; Feindt, Thomas; Zenker, Martin ORCID: https://orcid.org/0000-0003-1618-9269; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Dufke, Claudia ORCID: https://orcid.org/0000-0001-5225-2443; Scoles, Daniel R.; Koeppen, Arnulf; Spielmann, Malte ORCID: https://orcid.org/0000-0002-0583-4683; Riess, Olaf ORCID: https://orcid.org/0000-0002-7011-1369; Ossowski, Stephan; Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836 und Pulst, Stefan M. ORCID: https://orcid.org/0000-0003-0883-7879
(2024):
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
In: Nature Genetics [Forthcoming]
ORCID: https://orcid.org/0000-0002-9009-5458; Buena-Atienza, Elena ORCID: https://orcid.org/0000-0002-9890-1960; Paul, Sharan; Gandelman, Mandi; Kakar, Naseebullah; Sturm, Marc ORCID: https://orcid.org/0000-0002-6552-8362; Casadei, Nicolas; Admard, Jakob ORCID: https://orcid.org/0000-0003-0466-582X; Park, Joohyun; Zühlke, Christine; Hellenbroich, Yorck; Pozojevic, Jelena; Balachandran, Saranya ORCID: https://orcid.org/0009-0002-4905-3093; Händler, Kristian ORCID: https://orcid.org/0000-0001-5273-5277; Zittel, Simone ORCID: https://orcid.org/0000-0002-3767-6376; Timmann, Dagmar; Erdlenbruch, Friedrich ORCID: https://orcid.org/0009-0006-0654-836X; Herrmann, Laura; Feindt, Thomas; Zenker, Martin ORCID: https://orcid.org/0000-0003-1618-9269; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Dufke, Claudia ORCID: https://orcid.org/0000-0001-5225-2443; Scoles, Daniel R.; Koeppen, Arnulf; Spielmann, Malte ORCID: https://orcid.org/0000-0002-0583-4683; Riess, Olaf ORCID: https://orcid.org/0000-0002-7011-1369; Ossowski, Stephan; Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836 und Pulst, Stefan M. ORCID: https://orcid.org/0000-0003-0883-7879
(2024):
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
In: Nature Genetics [Forthcoming]
2022
Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; Os, Nienke J. H. van; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu, Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; Warrenburg, Bart vam de; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B. und Hengel, Holger
(2022):
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
In: Genetics in Medicine, Bd. 24, Nr. 10: S. 2079-2090
2021
Deschauer, Marcus; Hengel, Holger; Rupprich, Katrin; Kreiss, Martina; Schlotter-Weigel, Beate; Grimmel, Mona; Admard, Jakob; Schneider, Ilka; Alhaddad, Bader; Gazou, Anastasia; Sturm, Marc; Vorgerd, Matthias; Balousha, Ghassan; Balousha, Osama; Falna, Mohammed; Kirschke, Jan S.; Kornblum, Cornelia; Jordan, Berit; Kraya, Torsten; Strom, Tim M.; Weis, Joachim; Schoels, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas und Haack, Tobias B.
(2021):
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
In: Brain, Bd. 144: S. 574-583
2020
Habermeyer, Johanna; Boyken, Janina; Harrer, Julia; Canneva, Fabio; Ratz, Veronika; Moceri, Sandra; Admard, Jakob; Casadei, Nicolas; Jost, Gregor; Bäuerle, Tobias; Frenzel, Thomas; Schmitz, Christoph; Schütz, Gunnar; Pietsch, Hubertus und Hörsten, Stephan von
(2020):
Comprehensive phenotyping revealed transient startle response reduction and histopathological gadolinium localization to perineuronal nets after gadodiamide administration in rats.
In: Scientific Reports, Bd. 10, Nr. 1, 22385
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