Related references
Note: Only part of the references are listed.MSA-C or SCA 17? A clinicopathological case update
Karen M. Doherty et al.
MOVEMENT DISORDERS (2016)
The Pathogenic Role of Low Range Repeats in SCA17
Jung Hwan Shin et al.
PLOS ONE (2015)
Late Onset Ataxia: MSA-C or SCA 17? A Gene Penetrance Dilemma
Karen M. Doherty et al.
MOVEMENT DISORDERS (2014)
The Role of Interruptions in polyQ in the Pathology of SCA1
Rajesh P. Menon et al.
PLOS GENETICS (2013)
What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration
M. E. Ketelaar et al.
CLINICAL GENETICS (2012)
PET and MRI Reveal Early Evidence of Neurodegeneration in Spinocerebellar Ataxia Type 17
Kathrin Brockmann et al.
JOURNAL OF NUCLEAR MEDICINE (2012)
Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions
R. R. Hire et al.
CLINICAL GENETICS (2011)
SCA17 repeat expansion: Mildly expanded CAG/CAA repeat alleles in neurological disorders and the functional implications
Chiung-Mei Chen et al.
CLINICA CHIMICA ACTA (2010)
Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene
D. Nolte et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2010)
Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism
J-Y. Kim et al.
NEUROLOGY (2009)
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4)
Giovanni Stevanin et al.
CEREBELLUM (2008)
Phenotypic discordance in a pair of monozygotic twins with Huntington's disease
M. Panas et al.
CLINICAL GENETICS (2008)
Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17
Rui Gao et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Spinocerebellar ataxia type 17 (SCA17): Oculomotor phenotype and clinical characterization of 15 Italian patients
Caterina Mariotti et al.
JOURNAL OF NEUROLOGY (2007)
Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene
Ashish Nanda et al.
MOVEMENT DISORDERS (2007)
Minimum prevalence of spinocerebellar ataxia 17 in the north east of England
K Craig et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2005)
Spinocerebellar ataxia type 17:: Report of a family with reduced penetrance of an unstable GIn49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes -: art. no. 27
C Zühlke et al.
BMC MEDICAL GENETICS (2005)
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length
DR Langbehn et al.
CLINICAL GENETICS (2004)
Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype
P Bauer et al.
JOURNAL OF MEDICAL GENETICS (2004)
Spinocerebellar ataxia type 17 in the Yugoslav population
A Alendar et al.
ACTA NEUROLOGICA SCANDINAVICA (2004)
SCA17 homozygote showing Huntington's disease-like phenotype
Y Toyoshima et al.
ANNALS OF NEUROLOGY (2004)
Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17
M Oda et al.
ARCHIVES OF NEUROLOGY (2004)
Intergenerational instability and marked anticipation in SCA-17
F Maltecca et al.
NEUROLOGY (2003)
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
A Rolfs et al.
ANNALS OF NEUROLOGY (2003)
SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6
CH Zühlke et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2003)
Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes
G Stevanin et al.
BRAIN (2003)
Phenotypical variability of expanded alleles in the TATA-binding protein gene -: Reduced penetrance in SCA17?
C Zühlke et al.
JOURNAL OF NEUROLOGY (2003)
Spinocerebellar ataxia in monozygotic twins
JH Anderson et al.
ARCHIVES OF NEUROLOGY (2002)
CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms
S Choudhry et al.
HUMAN MOLECULAR GENETICS (2001)
CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia
H Fujigasaki et al.
BRAIN (2001)
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
K Nakamura et al.
HUMAN MOLECULAR GENETICS (2001)
Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia
C Zühlke et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2001)