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Journal article
Menden, Benita; Incebacak Eltemur, Rana D. 
ORCID: https://orcid.org/0000-0002-2522-6562; Demidov, German ORCID: https://orcid.org/0000-0001-9075-4276; Sturm, Marc ORCID: https://orcid.org/0000-0002-6552-8362; Park, Joohyun; Huridou, Chrisovalantou ORCID: https://orcid.org/0000-0002-1796-8240; Fath, Florian; Nümann, Astrid; Baumann, Alexander; Diets, Illja J.; Dufke, Claudia ORCID: https://orcid.org/0000-0001-5225-2443; Regensburger, Martin ORCID: https://orcid.org/0000-0002-2172-7386; Rönnefarth, Maria; Wilke, Vera; Os, Nienke van; Vielhaber, Stefan; Rattay, Tim W. ORCID: https://orcid.org/0000-0002-5456-7761; Kohl, Zacharias; Peralta, Susana ORCID: https://orcid.org/0000-0002-4406-0617; Pereira Sena, Priscila ORCID: https://orcid.org/0000-0002-2061-5470; Kellner, Melanie; Weissert, Nadine; Traschütz, Andreas; Zeltner, Lena; Boelmans, Kai; Deininger, Natalie; Schütz, Leon ORCID: https://orcid.org/0000-0001-7907-4878; Gross, Caspar ORCID: https://orcid.org/0000-0002-9009-5458; Hinojosa Amaya, Ana Beatriz ORCID: https://orcid.org/0000-0001-9439-7368; Raupach, Katrin; Hengel, Holger ORCID: https://orcid.org/0000-0002-9773-2667; Harmuth, Florian; Admard, Jakob ORCID: https://orcid.org/0000-0003-0466-582X; Bader, Ingrid; Baumann, Sarah; Bender, Friedemann; Bevot, Andrea; Bischoff, Almut T.; Boschann, Felix; Buchert, Rebecca ORCID: https://orcid.org/0000-0001-7576-3326; Buchzik, Daniel; Casadei, Nicolas ORCID: https://orcid.org/0000-0003-2209-0580; Catarino, Claudia B. ORCID: https://orcid.org/0000-0002-6528-7570; Cordts, Isabell ORCID: https://orcid.org/0000-0002-2078-1997; Cremer, Kirsten; Doebler-Neumann, Marion; Ehmke, Nadja ORCID: https://orcid.org/0000-0003-1449-9909; Elbracht, Miriam ORCID: https://orcid.org/0000-0001-5088-1369; Falb, Ruth J.; Feindt, Thomas; Fleszar, Zofia; Gerstner, Lea ORCID: https://orcid.org/0000-0002-9525-1288; Gläser, Dieter; Grasshoff, Ute; Grosch, Sarah; Grundmann, Kathrin; Gutschalk, Alexander ORCID: https://orcid.org/0000-0002-2523-8846; Haaga, Manja; Hayer, Stefanie N.; Hehr, Ute; Hellenbroich, Yorck; Henn, Wolfram; Herr, Barbara; Herzog, Rebecca; Horber, Veronka; Deppe, Jonas; Kaiser, Nadja; Kehrer, Christiane; Kehrer, Martin; Kern, Jan ORCID: https://orcid.org/0000-0001-8526-3894; Keßler, Christoph; Khuller, Katharina; Klinkhammer, Hannah ORCID: https://orcid.org/0000-0003-3752-1275; Kotzaeridou, Urania; Krawitz, Peter ORCID: https://orcid.org/0000-0002-3194-8625; Kreiss, Martina; Küpper, Hanna; Kuste, Alice ORCID: https://orcid.org/0000-0002-1365-6354; Laugwitz, Lucia ORCID: https://orcid.org/0000-0003-2506-1961; Lesemann, Anne; Lichey, Nadine; Linden, Tobias; Macek, Boris ORCID: https://orcid.org/0000-0002-1206-2458; Magg, Janine; Mangold, Elisabeth ORCID: https://orcid.org/0000-0002-3819-2576; Manka, Eva; Marquardt, Iris; Mehnert, Karl; Mengel, David ORCID: https://orcid.org/0000-0002-4133-7182; Morlot, Susanne; Oehl-Jaschkowitz, Barbara; Pauly, Martje G. ORCID: https://orcid.org/0000-0002-7794-0282; Philipp, Melanie ORCID: https://orcid.org/0000-0003-2714-965X; Radelfahr, Florentine; Rautenberg, Maren; Riess, Angelika; Saft, Carsten; Schlotter-Weigel, Beate; Schmidt, Axel ORCID: https://orcid.org/0000-0002-9780-7243; Schwaibold, Eva M. C. ORCID: https://orcid.org/0000-0003-2708-9642; Spahlinger, Veronika; Spranger, Stephanie; Steiner, Katharina Marie; Stendel, Claudia; Thieme, Andreas ORCID: https://orcid.org/0000-0001-6221-8601; Tzschach, Andreas ORCID: https://orcid.org/0000-0002-6840-965X; Velic, Ana; Wiethoff, Sarah; Wilke, Carlo; Züchner, Stephan ORCID: https://orcid.org/0000-0002-8498-5235; Zittel, Simone ORCID: https://orcid.org/0000-0002-3767-6376; Os, Nienke van; Warrenburg, Bart van de; Husain, Ralf A. ORCID: https://orcid.org/0000-0003-0798-6346; Deschauer, Marcus ORCID: https://orcid.org/0000-0001-6116-6790; Distelmaier, Felix ORCID: https://orcid.org/0000-0003-4304-7848; Dufke, Andreas ORCID: https://orcid.org/0000-0002-5616-5010; Graessner, Holm ORCID: https://orcid.org/0000-0001-9803-7183; Hemmer, Bernhard ORCID: https://orcid.org/0000-0001-5985-6784; Jacobi, Heike ORCID: https://orcid.org/0000-0002-6986-3969; Klockgether, Thomas ORCID: https://orcid.org/0000-0001-6174-5442; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Kobeleva, Xenia; Korenke, Georg-Christoph; Kuechler, Alma; Kuhlenbäumer, Gregor ORCID: https://orcid.org/0000-0002-3262-8113; Kurth, Ingo ORCID: https://orcid.org/0000-0002-5642-8378; Nguyen, Huu Phuc ORCID: https://orcid.org/0000-0001-6139-788X; Wunderlich, Gilbert ORCID: https://orcid.org/0000-0001-5544-335X; Zeuner, Kirsten E.; Klebe, Stephan; Auer-Grumbach, Michaela; Butryn, Michaela; Winkler, Jürgen ORCID: https://orcid.org/0000-0003-0630-9204; Timmann, Dagmar; Synofzik, Matthis ORCID: https://orcid.org/0000-0002-2280-7273; Warrenburg, Bart van de; Schüle, Rebecca; Schöls, Ludger; Ossowski, Stephan ORCID: https://orcid.org/0000-0002-7416-9568; Riess, Olaf ORCID: https://orcid.org/0000-0002-7011-1369; Weber, Jonasz J. ORCID: https://orcid.org/0000-0003-3758-1569 und Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836
(2026):
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
In: Nature Communications, Vol. 17, 1698
[PDF, 12MB]
ORCID: https://orcid.org/0000-0002-2522-6562; Demidov, German ORCID: https://orcid.org/0000-0001-9075-4276; Sturm, Marc ORCID: https://orcid.org/0000-0002-6552-8362; Park, Joohyun; Huridou, Chrisovalantou ORCID: https://orcid.org/0000-0002-1796-8240; Fath, Florian; Nümann, Astrid; Baumann, Alexander; Diets, Illja J.; Dufke, Claudia ORCID: https://orcid.org/0000-0001-5225-2443; Regensburger, Martin ORCID: https://orcid.org/0000-0002-2172-7386; Rönnefarth, Maria; Wilke, Vera; Os, Nienke van; Vielhaber, Stefan; Rattay, Tim W. ORCID: https://orcid.org/0000-0002-5456-7761; Kohl, Zacharias; Peralta, Susana ORCID: https://orcid.org/0000-0002-4406-0617; Pereira Sena, Priscila ORCID: https://orcid.org/0000-0002-2061-5470; Kellner, Melanie; Weissert, Nadine; Traschütz, Andreas; Zeltner, Lena; Boelmans, Kai; Deininger, Natalie; Schütz, Leon ORCID: https://orcid.org/0000-0001-7907-4878; Gross, Caspar ORCID: https://orcid.org/0000-0002-9009-5458; Hinojosa Amaya, Ana Beatriz ORCID: https://orcid.org/0000-0001-9439-7368; Raupach, Katrin; Hengel, Holger ORCID: https://orcid.org/0000-0002-9773-2667; Harmuth, Florian; Admard, Jakob ORCID: https://orcid.org/0000-0003-0466-582X; Bader, Ingrid; Baumann, Sarah; Bender, Friedemann; Bevot, Andrea; Bischoff, Almut T.; Boschann, Felix; Buchert, Rebecca ORCID: https://orcid.org/0000-0001-7576-3326; Buchzik, Daniel; Casadei, Nicolas ORCID: https://orcid.org/0000-0003-2209-0580; Catarino, Claudia B. ORCID: https://orcid.org/0000-0002-6528-7570; Cordts, Isabell ORCID: https://orcid.org/0000-0002-2078-1997; Cremer, Kirsten; Doebler-Neumann, Marion; Ehmke, Nadja ORCID: https://orcid.org/0000-0003-1449-9909; Elbracht, Miriam ORCID: https://orcid.org/0000-0001-5088-1369; Falb, Ruth J.; Feindt, Thomas; Fleszar, Zofia; Gerstner, Lea ORCID: https://orcid.org/0000-0002-9525-1288; Gläser, Dieter; Grasshoff, Ute; Grosch, Sarah; Grundmann, Kathrin; Gutschalk, Alexander ORCID: https://orcid.org/0000-0002-2523-8846; Haaga, Manja; Hayer, Stefanie N.; Hehr, Ute; Hellenbroich, Yorck; Henn, Wolfram; Herr, Barbara; Herzog, Rebecca; Horber, Veronka; Deppe, Jonas; Kaiser, Nadja; Kehrer, Christiane; Kehrer, Martin; Kern, Jan ORCID: https://orcid.org/0000-0001-8526-3894; Keßler, Christoph; Khuller, Katharina; Klinkhammer, Hannah ORCID: https://orcid.org/0000-0003-3752-1275; Kotzaeridou, Urania; Krawitz, Peter ORCID: https://orcid.org/0000-0002-3194-8625; Kreiss, Martina; Küpper, Hanna; Kuste, Alice ORCID: https://orcid.org/0000-0002-1365-6354; Laugwitz, Lucia ORCID: https://orcid.org/0000-0003-2506-1961; Lesemann, Anne; Lichey, Nadine; Linden, Tobias; Macek, Boris ORCID: https://orcid.org/0000-0002-1206-2458; Magg, Janine; Mangold, Elisabeth ORCID: https://orcid.org/0000-0002-3819-2576; Manka, Eva; Marquardt, Iris; Mehnert, Karl; Mengel, David ORCID: https://orcid.org/0000-0002-4133-7182; Morlot, Susanne; Oehl-Jaschkowitz, Barbara; Pauly, Martje G. ORCID: https://orcid.org/0000-0002-7794-0282; Philipp, Melanie ORCID: https://orcid.org/0000-0003-2714-965X; Radelfahr, Florentine; Rautenberg, Maren; Riess, Angelika; Saft, Carsten; Schlotter-Weigel, Beate; Schmidt, Axel ORCID: https://orcid.org/0000-0002-9780-7243; Schwaibold, Eva M. C. ORCID: https://orcid.org/0000-0003-2708-9642; Spahlinger, Veronika; Spranger, Stephanie; Steiner, Katharina Marie; Stendel, Claudia; Thieme, Andreas ORCID: https://orcid.org/0000-0001-6221-8601; Tzschach, Andreas ORCID: https://orcid.org/0000-0002-6840-965X; Velic, Ana; Wiethoff, Sarah; Wilke, Carlo; Züchner, Stephan ORCID: https://orcid.org/0000-0002-8498-5235; Zittel, Simone ORCID: https://orcid.org/0000-0002-3767-6376; Os, Nienke van; Warrenburg, Bart van de; Husain, Ralf A. ORCID: https://orcid.org/0000-0003-0798-6346; Deschauer, Marcus ORCID: https://orcid.org/0000-0001-6116-6790; Distelmaier, Felix ORCID: https://orcid.org/0000-0003-4304-7848; Dufke, Andreas ORCID: https://orcid.org/0000-0002-5616-5010; Graessner, Holm ORCID: https://orcid.org/0000-0001-9803-7183; Hemmer, Bernhard ORCID: https://orcid.org/0000-0001-5985-6784; Jacobi, Heike ORCID: https://orcid.org/0000-0002-6986-3969; Klockgether, Thomas ORCID: https://orcid.org/0000-0001-6174-5442; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Kobeleva, Xenia; Korenke, Georg-Christoph; Kuechler, Alma; Kuhlenbäumer, Gregor ORCID: https://orcid.org/0000-0002-3262-8113; Kurth, Ingo ORCID: https://orcid.org/0000-0002-5642-8378; Nguyen, Huu Phuc ORCID: https://orcid.org/0000-0001-6139-788X; Wunderlich, Gilbert ORCID: https://orcid.org/0000-0001-5544-335X; Zeuner, Kirsten E.; Klebe, Stephan; Auer-Grumbach, Michaela; Butryn, Michaela; Winkler, Jürgen ORCID: https://orcid.org/0000-0003-0630-9204; Timmann, Dagmar; Synofzik, Matthis ORCID: https://orcid.org/0000-0002-2280-7273; Warrenburg, Bart van de; Schüle, Rebecca; Schöls, Ludger; Ossowski, Stephan ORCID: https://orcid.org/0000-0002-7416-9568; Riess, Olaf ORCID: https://orcid.org/0000-0002-7011-1369; Weber, Jonasz J. ORCID: https://orcid.org/0000-0003-3758-1569 und Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836
(2026):
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
In: Nature Communications, Vol. 17, 1698
[PDF, 12MB]
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]
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, Vol. 24, No. 10: pp. 2079-2090
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, Vol. 144: pp. 574-583
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, Vol. 10, No. 1, 22385
[PDF, 7MB]