Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia

Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort

(2012) Koen L. I. van Gassen et al.   BRAIN

SPASTmutations in Australian patients with hereditary spastic paraplegia

(2012) H. Vandebona et al.   INTERNAL MEDICINE JOURNAL

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

(2012) Peter Bauer et al.   NEUROGENETICS

Genetics of Hereditary Spastic Paraplegias

(2012) Rebecca Schüle et al.   SEMINARS IN NEUROLOGY

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

(2011) NA Schlipf et al.   CLINICAL GENETICS

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia

(2010) DS McCorquodale et al.   CLINICAL GENETICS

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation

(2010) Christophe Verny et al.   MITOCHONDRION

Differentiation of Hereditary Spastic Paraparesis From Primary Lateral Sclerosis in Sporadic Adult-Onset Upper Motor Neuron Syndromes

(2009) Frans Brugman et al.   ARCHIVES OF NEUROLOGY

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5

(2009) C. Goizet et al.   BRAIN