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Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

Schüle-Freyer, Rebecca; Caballero Oteyza, Andrés; Schöls, Ludger (Cell Press, 2013)
Sulphatation Does Not Appear to Be a Protective Mechanism to Prevent Oxysterol Accumulation in Humans and Mice

Schüle-Freyer, Rebecca; Schöls, Ludger (Public Library Science, 2013)
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)

Schöls, Ludger; Schüle-Freyer, Rebecca; Caballero Oteyza, Andrés (Nature Publishing Group, 2013)
Decreased retinal sensitivity and loss of retinal nerve fibers in multiple system atrophy

Synofzik, Matthis Benjamin; Kernstock, Christoph; Dietzsch, Janko; Heidlauf, Robert Hermann; Schicks, Julia; Srulijes, Karin; Wiethoff, Sarah; Berg, Daniela; Schöls, Ludger; Fischer, Manuel Dominik (Springer, 2013)
Hereditäre Ataxien : Aktuelle Übersicht und diagnostische Strategien

Schöls, Ludger; Rieß, Olaf; Synofzik, Matthis Benjamin (Springer, 2013)
Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7

Schöls, Ludger (Pergamon - Elsevier Science Ltd, 2013)
Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6

Linnemann, Christoph; Bauer, Peter; Hauser, Till-Karsten; Schöls, Ludger (Oxford Univ Press, 2013)
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)
Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

Schüle-Freyer, Rebecca; Schöls, Ludger; Caballero Oteyza, Andrés (Cell Press, 2013)
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive CharcotMarieTooth disease

Schöls, Ludger (Oxford Univ Press, 2013)

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