Issue 2/2016
Content (8 Articles)
A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening
E. H. Gerkes, J. M. Fock, W. F. A. den Dunnen, M. J. van Belzen, C. A. van der Lans, E. W. Hoving, I. E. Fakkert, M. J. Smith, D. G. Evans, M. J. W. Olderode-Berends
A novel heat shock protein alpha 8 (Hspa8) molecular network mediating responses to stress- and ethanol-related behaviors
Kyle R. Urquhart, Yinghong Zhao, Jessica A. Baker, Ye Lu, Lei Yan, Melloni N. Cook, Byron C. Jones, Kristin M. Hamre, Lu Lu
Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence
Karina Carvalho Donis, Jonas Alex Morales Saute, Ana Carolina Krum-Santos, Gabriel Vasata Furtado, Eduardo Preusser Mattos, Maria Luiza Saraiva-Pereira, Vanessa Leotti Torman, Laura Bannach Jardim
Recessive mutations of TMC1 associated with moderate to severe hearing loss
Ayesha Imtiaz, Azra Maqsood, Atteeq U. Rehman, Robert J. Morell, Jeffrey R. Holt, Thomas B. Friedman, Sadaf Naz
Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid
Nina Jensen, Jacob Kwasi Autzen, Lene Pedersen
Multiple sclerosis in families: risk factors beyond known genetic polymorphisms
Denis A. Akkad, De-Hyung Lee, Kathrin Bruch, Aiden Haghikia, Jörg T. Epplen, Sabine Hoffjan, Ralf A. Linker
Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia
Yi-Hong Shao, Karine Choquet, Roberta La Piana, Martine Tétreault, Marie-Josée Dicaire, Kym M. Boycott, Jacek Majewski, Bernard Brais
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
Michelangelo Cao, Marta Donà, M. Lucia Valentino, Claudio Semplicini, Alessandra Maresca, Matteo Cassina, Alessandra Torraco, Eva Galletta, Valeria Manfioli, Gianni Sorarù, Valerio Carelli, Roberto Stramare, Enrico Bertini, Rosalba Carozzo, Leonardo Salviati, Elena Pegoraro