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

[1]  S. Pappatà,et al.  Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families. , 2019, Parkinsonism & related disorders.

[2]  J. Schmahmann.  The cerebellum and cognition , 2019, Neuroscience Letters.

[3]  S. Beltran,et al.  Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48) , 2018, Neurology.

[4]  R. Valabrègue,et al.  Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes , 2018, NeuroImage: Clinical.

[5]  Bing-Wen Soong,et al.  Spinocerebellar ataxias. , 2018, Handbook of clinical neurology.

[6]  J. López-Sendón,et al.  Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1 , 2015, Cerebellum.

[7]  Holger Storf,et al.  Se-atlas-cartographic representation of experts for rare diseases , 2014, Orphanet Journal of Rare Diseases.

[8]  Hai-hui Li,et al.  Diffusion Tensor Imaging of Spinocerebellar Ataxia Type 12 , 2014, Medical science monitor : international medical journal of experimental and clinical research.

[9]  K. Heimdal,et al.  STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity , 2014, Orphanet Journal of Rare Diseases.

[10]  E. Gatto,et al.  Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations , 2014, Neurology.

[11]  N. Simonis,et al.  Autosomal recessive cerebellar ataxia of adult onset due to STUB1 Mutations , 2014, Neurology.

[12]  S. Züchner,et al.  Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts , 2014, Orphanet Journal of Rare Diseases.

[13]  J. Schisler,et al.  Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. , 2014, Human molecular genetics.

[14]  Jun Wang,et al.  Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia , 2013, PloS one.

[15]  Ellen T. Gelfand,et al.  The Genotype-Tissue Expression (GTEx) project , 2013, Nature Genetics.

[16]  C. Westin,et al.  An introduction to diffusion tensor image analysis. , 2011, Neurosurgery clinics of North America.

[17]  Alexandra Durr,et al.  Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond , 2010, The Lancet Neurology.

[18]  H. Paulson,et al.  The spinocerebellar ataxias. , 2009, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

[19]  P. Cohen,et al.  Chaperoned ubiquitylation--crystal structures of the CHIP U box E3 ubiquitin ligase and a CHIP-Ubc13-Uev1a complex. , 2005, Molecular cell.

[20]  P. Connell,et al.  Identification of CHIP, a Novel Tetratricopeptide Repeat-Containing Protein That Interacts with Heat Shock Proteins and Negatively Regulates Chaperone Functions , 1999, Molecular and Cellular Biology.

[21]  J. Schmahmann,et al.  The cerebellar cognitive affective syndrome. , 1998, Brain : a journal of neurology.