A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)

Development of a Multiplex Ligation-Dependent Probe Amplification Assay for Diagnosis and Estimation of the Frequency of Spinocerebellar Ataxia Type 15

(2009) D. Ganesamoorthy et al.   CLINICAL CHEMISTRY

High-Resolution Melting Analysis (HRMA)-More than just sequence variant screening

(2009) Rolf H.A.M. Vossen et al.   HUMAN MUTATION

A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)

(2008) Pengfei Lin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

(2008) Christian Beetz et al.   BRAIN

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

(2008) Cyril Goizet et al.   HUMAN MUTATION

High-resolution DNA melting analysis: advancements and limitations

(2008) Carl T. Wittwer   HUMAN MUTATION

SPG10 is a rare cause of spastic paraplegia in European families

(2008) R Schule et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots

(2008) Christian Beetz et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

(2008) Sara Salinas et al.   LANCET NEUROLOGY

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

(2008) Rebecca Schüle et al.   NEUROGENETICS