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Showing 7 out of a total of 7 results for community: Universitätsbibliographie. (0.006 seconds)

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FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications

Lindig, Tobias; Eckstein, Kathrin N.; Wiethoff, Sarah; Reichbauer, Jennifer; Bauer, Peter; Rattay, Tim Wilfried; Söhn, Anne; Döbler-Neumann, Marion; Krägeloh-Mann, Ingeborg; Schöls, Ludger; Schüle, Rebecca (Oxford Univ Press, 2019)
Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias

Reichbauer, Jennifer; Schüle, Rebecca; Synofzik, Matthis Benjamin; Rattay, Tim Wilfried; Söhn, Anne; Schöls, Ludger (Wiley, 2017)
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Synofzik, Matthis Benjamin; Gburek-Augustat, Janina; Schicks, Julia; Karle, Kathrin Nora; Biskup, Saskia; Bender, Benjamin; Bauer, Peter; Schüle-Freyer, Rebecca; Schöning, Martin; Schöls, Ludger; Söhn, Anne (Biomed Central Ltd, 2013)
Klinik und Genetik der spastischen Spinalparalysen

Schöls, Ludger; Söhn, Anne; Bauer, Peter; Schlipf, Nina Ariane (Springer, 2013)
Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families

Söhn, Anne; Rattay, Tim Wilfried; Beck-Wödl, Stefanie; Schäferhoff, Karin; Döbler-Neumann, Marion; Rieß, Olaf; Schüle-Freyer, Rebecca; Bauer, Peter; Schöls, Ludger (Lippincott Williams & Wilkins, 2016)
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Reichbauer, Jennifer; Hengel, Holger; Atasu, Burcu; Lindig, Tobias; Sturm, Marc; Bauer, Peter; Lohmann, Ebba; Söhn, Anne; Rattay, Tim Wilfried; Synofzik, Matthis Benjamin; Schöls, Ludger; Schüle-Freyer, Rebecca (Oxford Univ Press, 2017)
Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic

Just, Jennifer; Hengel, Holger; Winter, Natalie; Grimm, Alexander; Rattay, Tim Wilfried; Röben, Benjamin; Schüle, Rebecca; Synofzik, Matthis Benjamin; Söhn, Anne; Dammeier, Nele Maria; Schöls, Ludger (Bmc, 2018)