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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)
Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings

Hauser, Till-Karsten; Globas, Christoph; Bauer, Peter; 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)
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; Oteyza, Andrés Caballero (Cell Press, 2013)
Hereditäre Ataxien

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)
PRRT2-related disorders: further PKD and ICCA cases and review of the literature

Becker, Felicitas; Schubert, Julian; Lerche, Holger; Weber, Yvonne G.; Müller, Stephan; Schöls, Ludger (Springer Heidelberg, 2013)
L-2 hydroxyglutaric aciduria as a rare cause of leukencephalopathy in adults

Schöls, Ludger; Krägeloh-Mann, Ingeborg (Elsevier Science Bv, 2013)

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