Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families

(2019) Giovanna De Michele et al.   PARKINSONISM & RELATED DISORDERS

CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset

(2019) Jong-Min Lee et al.   CELL

The complex phenotype of spinocerebellar ataxia type 48 (SCA48) in eight unrelated Italian families

(2019) M Lieto et al.   EUROPEAN JOURNAL OF NEUROLOGY

Changes in protein function underlie the disease spectrum in patients with CHIP mutations

(2019) Sabrina C. Madrigal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The cerebellum and cognition

(2018) Jeremy D. Schmahmann   NEUROSCIENCE LETTERS

Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16

(2018) José Gazulla et al.   NEUROLOGICAL SCIENCES

Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)

(2018) David Genis et al.   NEUROLOGY

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

(2017) Stefanie Nicole Hayer et al.   Orphanet Journal of Rare Diseases

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach

(2016) Louise-Laure Mariani et al.   JAMA Neurology

Cerebellar Contribution to Social Cognition

(2015) Franziska Hoche et al.   CEREBELLUM

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

(2015) Conceição Bettencourt et al.   CEREBELLUM

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

(2015) M. Coutelier et al.   NEUROLOGY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

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

(2014) Matthis Synofzik et al.   Orphanet Journal of Rare Diseases

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

(2014) Ketil Heimdal et al.   Orphanet Journal of Rare Diseases

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

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

(2013) Yuting Shi et al.   PLoS One

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

(2012) Stephan Klebe et al.   BRAIN

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

(2011) Katya Rascovsky et al.   BRAIN

Classification of primary progressive aphasia and its variants

(2011) M. L. Gorno-Tempini et al.   NEUROLOGY

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY