J. Schickel

Identification of nuclear localisation sequences in spastin (SPG4) using a novel Tetra-GFP reporter system.

M. Bastmeyer, C. Beetz, T. Deufel, 2004, Biochemical and biophysical research communications.

Isoform‐specific increase of spastin stability by N‐terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia

C. Beetz, T. Deufel, T. Klopstock, 2007, European journal of neurology.

Gene for integrin-associated protein (IAP, CD47): physical mapping, genomic structure, and expression studies in skeletal muscle.

R. Sudbrak, K. Zimmer, T. Deufel, 2002, Biochemistry and cell biology = Biochimie et biologie cellulaire.

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

O. Witte, R. Schüle, L. Schöls, 2006, Neurology.

Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause

M. Pericak-Vance, A. Ashley-Koch, M. Hutchinson, 2007, Human mutation.

Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene

J. Liepert, C. Weiller, J. Hazan, 2003, Journal of neurology, neurosurgery, and psychiatry.

Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis

T. Deufel, A. Superti-Furga, M. Kiehntopf, 2002, Human mutation.