Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering

In vivo dopaminergic and serotonergic dysfunction inDCTN1gene mutation carriers

(2014) Andre C. Felicio et al.   MOVEMENT DISORDERS

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

(2014) Y.-T. Liu et al.   NEUROLOGY

DCTN1Mutation Analysis in Families With Progressive Supranuclear Palsy–Like Phenotypes

(2014) Paola Caroppo et al.   JAMA Neurology

Novel mutation in the replication focus targeting sequence domain ofDNMT1causes hereditary sensory and autonomic neuropathy IE

(2013) Junhui Yuan et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease

(2012) Jose Bras et al.   NATURE REVIEWS NEUROSCIENCE

Dynactin Is Required for Transport Initiation from the Distal Axon

(2012) Armen J. Moughamian et al.   NEURON

Elucidating the genetics and pathology of Perry syndrome

(2009) Christian Wider et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

(2008) Bettina Ebbing et al.   HUMAN MOLECULAR GENETICS

Regulation of Dynactin through the Differential Expression of p150GluedIsoforms

(2008) Ram Dixit et al.   JOURNAL OF BIOLOGICAL CHEMISTRY