Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

(2013) Chiara Vantaggiato et al.   BRAIN

Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

(2012) Danit Oz-Levi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Drosophila mauveMutants Reveal a Role of LYST Homologs Late in the Maturation of Phagosomes and Autophagosomes

(2012) Mokhlasur Rahman et al.   TRAFFIC

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

(2011) Y. Erlich et al.   GENOME RESEARCH

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Adult Chédiak-Higashi syndrome presenting as parkinsonism and dementia

(2010) E. Uyama et al.   ACTA NEUROLOGICA SCANDINAVICA

A concanavalin A-like lectin domain in the CHS1/LYST protein, shared by members of the BEACH family

(2009) Agathe Burgess et al.   BIOINFORMATICS

SNP HiTLink: a high-throughput linkage analysis system employing dense SNP data

(2009) Yoko Fukuda et al.   BMC BIOINFORMATICS

Chediak-Higashi syndrome

(2009) Jerry Kaplan et al.   CURRENT OPINION IN HEMATOLOGY

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

(2008) Sara Salinas et al.   LANCET NEUROLOGY