Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

(2013) Matthis Synofzik et al.   BRAIN

Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP

(2013) Chang-He Shi et al.   HUMAN MOLECULAR GENETICS

GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis

(2013) Michael A. Gonzalez et al.   HUMAN MUTATION

Endoplasmic Reticulum Protein Quality Control Is Determined by Cooperative Interactions between Hsp/c70 Protein and the CHIP E3 Ligase

(2013) Yoshihiro Matsumura et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2013) Kathrin N Karle et al.   Orphanet Journal of Rare Diseases

Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia

(2013) Yuting Shi et al.   PLoS One

Reviewing the genetic causes of spastic-ataxias

(2012) S. T. de Bot et al.   NEUROLOGY

The Autosomal Recessive Cerebellar Ataxias

(2012) Mathieu Anheim et al.   NEW ENGLAND JOURNAL OF MEDICINE

The small heat shock protein B8 (HspB8) promotes autophagic removal of misfolded proteins involved in amyotrophic lateral sclerosis (ALS)

(2010) Valeria Crippa et al.   HUMAN MOLECULAR GENETICS

A Critical Role for CHIP in the Aggresome Pathway

(2008) Y. Sha et al.   MOLECULAR AND CELLULAR BIOLOGY

In vivo suppression of polyglutamine neurotoxicity by C-terminus of Hsp70-interacting protein (CHIP) supports an aggregation model of pathogenesis

(2008) Aislinn J. Williams et al.   NEUROBIOLOGY OF DISEASE