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Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

Bauer, Peter; Schlipf, Nina Ariane; Schicks, Julia; Rieß, Olaf; Schroeder, Christopher; Schöls, Ludger (Springer, 2012)
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

Schüle-Freyer, Rebecca; Schöls, Ludger (Amer Soc Clinical Investigation Inc, 2012)
Motor protein mutations cause a new form of hereditary spastic paraplegia

Lindig, Tobias; Reichbauer, Jennifer; Bender, Benjamin; Schöls, Ludger; Schüle-Freyer, Rebecca; Oteyza, Andrés Caballero (Lippincott Williams & Wilkins, 2014)
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

Bauer, Peter; Schöls, Ludger; Rieß, Olaf (Oxford Univ Press, 2014)
Cerebellar pathology in Friedreich's ataxia: Atrophied dentate nuclei with normal iron content

Schöls, Ludger (Elsevier Sci Ltd, 2014)
A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

Synofzik, Matthis Benjamin; Maetzler, Walter; Müller vom Hagen, Jennifer Miriam; Schöls, Ludger (Wiley - Blackwell, 2013)
Prospective Analysis of Falls in Dominant Ataxias

Globas, Christoph; Schöls, Ludger (Karger, 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)
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)

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