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Anzahl der Publikationen: 2
Zeitschriftenartikel
Jacob, Maureen; Kölbel, Heike; Harrer, Philip; Kopajtich, Robert; Munot, Pinki; Achleitner, Melanie T; Badmann, Susann; Brugger, Melanie 
ORCID: https://orcid.org/0000-0002-6920-8550; Brunet, Theresa ORCID: https://orcid.org/0000-0002-5183-780X; Bonne, Gisèle; Codina, Marta; Ebner, Laura; Eshraghi, Peyman; Eyring, Katharina; Farhat, Ahmad Shah; Feichtinger, René G; Graf, Elisabeth; Marcé-Grau, Anna; Hahn, Andreas; Houlden, Henry ORCID: https://orcid.org/0000-0002-2866-7777; Karimiani, Ehsan Ghayoor; Manel, Véronique; Mayerhanser, Katharina; Nectoux, Juliette; Nelson, Isabelle; Phadke, Rahul; Prokisch, Holger; Sadeghian, Saeid ORCID: https://orcid.org/0000-0002-7935-3401; Saparov, Alice; Schänzer, Anne ORCID: https://orcid.org/0000-0002-2014-2028; Schara-Schmidt, Ulrike; Schmidt, Julia; Schuler, Rahel; Sewry, Caroline; Shariati, Gholamreza; Slanz, Silke; Smirnov, Dmitrii; Sukenik-Halevy, Rivka; Tajsharghi, Homa; Toosi, Mehran Beiraghi; Trujillano, Laura; Weis, Joachim ORCID: https://orcid.org/0000-0003-3280-6773; Wilson, Louise C; Ben Yaou, Rabah; Zamani, Mina; Zech, Michael; Zschüntzsch, Jana; Kornak, Uwe; Goméz-Andrés, David ORCID: https://orcid.org/0000-0001-5654-7791; Maroofian, Reza ORCID: https://orcid.org/0000-0001-6763-1542; Winkelmann, Juliane; Roos, Andreas; Distelmaier, Felix ORCID: https://orcid.org/0000-0001-8460-3738; Mayr, Johannes A und Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823
(2025):
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
In: Brain, awaf227 [Forthcoming]
ORCID: https://orcid.org/0000-0002-6920-8550; Brunet, Theresa ORCID: https://orcid.org/0000-0002-5183-780X; Bonne, Gisèle; Codina, Marta; Ebner, Laura; Eshraghi, Peyman; Eyring, Katharina; Farhat, Ahmad Shah; Feichtinger, René G; Graf, Elisabeth; Marcé-Grau, Anna; Hahn, Andreas; Houlden, Henry ORCID: https://orcid.org/0000-0002-2866-7777; Karimiani, Ehsan Ghayoor; Manel, Véronique; Mayerhanser, Katharina; Nectoux, Juliette; Nelson, Isabelle; Phadke, Rahul; Prokisch, Holger; Sadeghian, Saeid ORCID: https://orcid.org/0000-0002-7935-3401; Saparov, Alice; Schänzer, Anne ORCID: https://orcid.org/0000-0002-2014-2028; Schara-Schmidt, Ulrike; Schmidt, Julia; Schuler, Rahel; Sewry, Caroline; Shariati, Gholamreza; Slanz, Silke; Smirnov, Dmitrii; Sukenik-Halevy, Rivka; Tajsharghi, Homa; Toosi, Mehran Beiraghi; Trujillano, Laura; Weis, Joachim ORCID: https://orcid.org/0000-0003-3280-6773; Wilson, Louise C; Ben Yaou, Rabah; Zamani, Mina; Zech, Michael; Zschüntzsch, Jana; Kornak, Uwe; Goméz-Andrés, David ORCID: https://orcid.org/0000-0001-5654-7791; Maroofian, Reza ORCID: https://orcid.org/0000-0001-6763-1542; Winkelmann, Juliane; Roos, Andreas; Distelmaier, Felix ORCID: https://orcid.org/0000-0001-8460-3738; Mayr, Johannes A und Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823
(2025):
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
In: Brain, awaf227 [Forthcoming]
Wiessner, Manuela; Roos, Andreas; Munn, Christopher J.; Viswanathan, Ranjith; Whyte, Tamieka; Cox, Dan; Schoser, Benedikt; Sewry, Caroline; Roper, Helen; Phadke, Rahul; Bettolo, Chiara Marini; Barresi, Rita; Charlton, Richard; Bönnemann, Carsten G.; Neto, Osorio Abath; Reed, Umbertina C.; Zanoteli, Edmar; Moreno, Cristiane Araujo Martins; Ertl-Wagner, Birgit; Stucka, Rolf; Goede, Christian de; Silva, Tamiris Borges da; Hathazi, Denisa; Dell'Aica, Margherita; Zahedi, Rene P.; Thiele, Simone; Müller, Juliane; Kingston, Helen; Müller, Susanna; Curtis, Elizabeth; Walter, Maggie C.; Strom, Tim M.; Straub, Volker; Bushby, Kate; Muntoni, Francesco; Swan, Laura E.; Lochmüller, Hanns und Senderek, Jan
(2017):
Mutations in INPPSK, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
In: American Journal of Human Genetics, Bd. 100, Nr. 3: S. 523-536
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