PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

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PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

Author: Synofzik, Matthis; Gonzalez, Michael A.; Lourenco, Charles Marques; Coutelier, Marie; Haack, Tobias B.; Rebelo, Adriana; Hannequin, Didier; Strom, Tim M.; Prokisch, Holger; Kernstock, Christoph; Durr, Alexandra; Schoels, Ludger; Lima-Martinez, Marcos M.; Farooq, Amjad; Schuele, Rebecca; Stevanin, Giovanni; Marques, Wilson, Jr.; Zuechner, Stephan
Tübinger Autor(en):
Kernstock, Christoph
Synofzik, Matthis Benjamin
Schöls, Ludger
Schüle-Freyer, Rebecca
Published in: Brain (2014), Bd. 137, S. 69-77
Verlagsangabe: Oxford Univ Press
Language: English
Full text: http://dx.doi.org/10.1093/brain/awt326
ISSN: 0006-8950
DDC Classifikation: 610 - Medicine and health
570 - Life sciences; biology
Dokumentart: Artikel
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