Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)

Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

(2012) Christian Beetz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features

(2012) L. Leonardis et al.   EUROPEAN JOURNAL OF NEUROLOGY

NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis

(2012) Hylke M. Blauw et al.   HUMAN MOLECULAR GENETICS

Axonal transport deficit in a KIF5A –/– mouse model

(2012) Kathrin N. Karle et al.   NEUROGENETICS

Genetics of Hereditary Spastic Paraplegias

(2012) Rebecca Schüle et al.   SEMINARS IN NEUROLOGY

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

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

Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

(2010) Christian Guelly et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Axonal integrity of corticospinal projections to the upper limbs in patients with pure hereditary spastic paraplegia

(2010) Nicolas Lang et al.   CLINICAL NEUROPHYSIOLOGY

Widespread thalamic and cerebellar degeneration in a patient with a complicated hereditary spastic paraplegia (HSP)

(2009) K. Seidel et al.   ANNALS OF ANATOMY-ANATOMISCHER ANZEIGER

Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients

(2009) Paul R. Kasher et al.   JOURNAL OF NEUROCHEMISTRY