The Guanine Nucleotide Exchange Factor Kalirin-7 Is a Novel Synphilin-1 Interacting Protein and Modifies Synphilin-1 Aggregate Transport and Formation

Por Tsai, Yu-Chun, Riess, Olaf, Soehn, Anne S., Nguyen, Huu Phuc
Publicado em 2012

Genetic analysis of polymorphisms in the kalirin gene for association with age-at-onset in European Huntington disease patients

Por Tsai, Yu-Chun, Metzger, Silke, Riess, Olaf, Soehn, Anne S, Nguyen, Huu Phuc
Publicado em 2012

Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias

Por Bis, Dana M., Schüle, Rebecca, Reichbauer, Jennifer, Synofzik, Matthis, Rattay, Tim W., Soehn, Anne, de Jonghe, Peter, Schöls, Ludger, Züchner, Stephan
Publicado no Mol Genet Genomic Med (2017)

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families

Por Soehn, Anne S., Rattay, Tim W., Beck-Wödl, Stefanie, Schäferhoff, Karin, Monk, David, Döbler-Neumann, Marion, Hörtnagel, Konstanze, Schlüter, Agatha, Ruiz, Montserrat, Pujol, Aurora, Züchner, Stephan, Riess, Olaf, Schüle, Rebecca, Bauer, Peter, Schöls, Ludger
Publicado no Neurology (2016)

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Por Synofzik, Matthis, Soehn, Anne S, Gburek-Augustat, Janina, Schicks, Julia, Karle, Kathrin N, Schüle, Rebecca, Haack, Tobias B, Schöning, Martin, Biskup, Saskia, Rudnik-Schöneborn, Sabine, Senderek, Jan, Hoffmann, Karl-Titus, MacLeod, Patrick, Schwarz, Johannes, Bender, Benjamin, Krüger, Stefan, Kreuz, Friedmar, Bauer, Peter, Schöls, Ludger
Publicado em 2013