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

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

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

Autor(en):

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
Schöls, Ludger
Schüle-Freyer, Rebecca

Erschienen in:

Brain (2014), Bd. 137, S. 69-77

Verlagsangabe:

Oxford Univ Press

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1093/brain/awt326

ISSN:

0006-8950