4.5 Article

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform

Michael Gonzalez et al.

HUMAN MUTATION (2015)

Article Biochemistry & Molecular Biology

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

Chang-He Shi et al.

HUMAN MOLECULAR GENETICS (2014)

Article Genetics & Heredity

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

Matthis Synofzik et al.

ORPHANET JOURNAL OF RARE DISEASES (2014)

Article Genetics & Heredity

STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity

Ketil Heimdal et al.

ORPHANET JOURNAL OF RARE DISEASES (2014)

Article Clinical Neurology

Scale for the assessment and rating of ataxia -: Development of a new clinical scale

T. Schmitz-Huebsch et al.

NEUROLOGY (2006)

Review Biochemistry & Molecular Biology

CHIP: a quality-control E3 ligase collaborating with molecular chaperones

S Murata et al.

INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2003)