Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia

Hot-spot KIF5A mutations cause familial ALS

(2018) David Brenner et al.   BRAIN

Bidirectional motility of kinesin-5 motor proteins: structural determinants, cumulative functions and physiological roles

(2018) Sudhir Kumar Singh et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

KIF5Amutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction

(2016) Jessica Duis et al.   ANNALS OF NEUROLOGY

Overexpression ofKLC2due to a homozygous deletion in the non-coding region causes SPOAN syndrome

(2015) Uirá S. Melo et al.   HUMAN MOLECULAR GENETICS

Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene

(2015) Fatih Bayrakli et al.   JOURNAL OF HUMAN GENETICS

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

(2014) Temistocle Lo Giudice et al.   EXPERIMENTAL NEUROLOGY

A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness

(2014) M. Muglia et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

Spastic Paraplegia Mutation N256S in the Neuronal Microtubule Motor KIF5A Disrupts Axonal Transport in a Drosophila HSP Model

(2012) Petra Füger et al.   PLoS Genetics

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

(2008) Cyril Goizet et al.   HUMAN MUTATION