KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

(2011) Jean-Baptiste Rivière et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

KIF1A is the primary anterograde motor protein required for the axonal transport of dense-core vesicles in cultured hippocampal neurons

(2011) K.Y. Lo et al.   NEUROSCIENCE LETTERS

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

(2009) C. Goizet et al.   BRAIN

Genetics of motor neuron disorders: new insights into pathogenic mechanisms

(2009) Patrick A. Dion et al.   NATURE REVIEWS GENETICS

Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

(2008) Maria K. Tsaousidou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recent advances in the genetics of spastic paraplegias

(2008) Giovanni Stevanin et al.   Current Neurology and Neuroscience Reports

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

(2008) Cyril Goizet et al.   HUMAN MUTATION

SPG10 is a rare cause of spastic paraplegia in European families

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

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

(2008) Sara Salinas et al.   LANCET NEUROLOGY

New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)

(2008) Channa Hewamadduma et al.   NEUROGENETICS