Novel dominant variant in STUB1 causing ataxia, movement disorders and cognitive impairment: A complex phenotype mimicking SCA17

Spinocerebellar ataxia type 48: last but not least

(2020) Giovanna De Michele et al.   NEUROLOGICAL SCIENCES

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

(2020) Thomas Roux et al.   GENETICS IN MEDICINE

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

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

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

Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family

(2019) R. Palvadeau et al.   NEUROGENETICS

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

(2018) David Genis et al.   NEUROLOGY

Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations

(2014) M. Cordoba et al.   NEUROLOGY

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

Movement disorders in spinocerebellar ataxias

(2011) Judith van Gaalen et al.   MOVEMENT DISORDERS