Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes
G Aydin, G Dekomien, S Hoffjan, WM Gerding… - BMC neurology, 2018 - Springer
Background Spinocerebellar ataxia (SCA) subtypes are often caused by expansions in non-
coding regions of genes like SCA8, SCA10, SCA12 and SCA36. Other ataxias are known to …
coding regions of genes like SCA8, SCA10, SCA12 and SCA36. Other ataxias are known to …
Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients
Z Musova, Z Sedlacek, R Mazanec, J Klempir, J Roth… - The Cerebellum, 2013 - Springer
Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders
currently associated with 27 genes. The most frequent types are caused by expansions in …
currently associated with 27 genes. The most frequent types are caused by expansions in …
Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1–3, 6 and 7 CAG expansions
A Brusco, C Cagnoli, A Franco, E Dragone… - Journal of …, 2002 - Springer
Spinocerebellar ataxias (SCA) are a heterogeneous group of neurodegenerative disorders,
six of which are caused by expansion of a polyglutamine-coding CAG repeats (SCA1-3, 6, 7 …
six of which are caused by expansion of a polyglutamine-coding CAG repeats (SCA1-3, 6, 7 …
[HTML][HTML] Spinocerebellar ataxia tethering PCR: a rapid genetic test for the diagnosis of spinocerebellar ataxia types 1, 2, 3, 6, and 7 by PCR and capillary …
C Cagnoli, A Brussino, C Mancini, M Ferrone… - The Journal of Molecular …, 2018 - Elsevier
Spinocerebellar ataxia (SCA) types 1, 2, 3, 6, and 7, associated with a (CAG) n repeat
expansion in coding sequences, are the most prevalent autosomal dominant ataxias …
expansion in coding sequences, are the most prevalent autosomal dominant ataxias …
Investigation of SCA10 in the Cypriot population: further exclusion of SCA dynamic repeat mutations
C Votsi, E Zamba-Papanicolaou, A Georghiou… - Journal of the …, 2012 - Elsevier
Autosomal dominant cerebellar ataxias (ADCAs) encompass a heterogeneous group of rare
diseases that affect the cerebellum and its connections. The most common forms have been …
diseases that affect the cerebellum and its connections. The most common forms have been …
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier
P Origone, F Gotta, M Lamp, L Trevisan, A Geroldi… - Cerebellum & …, 2018 - Springer
Abstract Background Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous
forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can …
forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can …
Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families
RJ Sinke, EF Ippel, CM Diepstraten… - Archives of …, 2001 - jamanetwork.com
Background Autosomal dominant cerebellar ataxias (ADCAs), or spinocerebellar ataxias
(SCAs), are a heterogeneous group of neurodegenerative disorders. Mild CAG repeat …
(SCAs), are a heterogeneous group of neurodegenerative disorders. Mild CAG repeat …
SCA‐LSVD: a repeat‐oriented locus‐specific variation database for genotype to phenotype correlations in spinocerebellar ataxias
Repeat expansion has been implicated in 10 out of 17 candidate genes identified for
autosomal dominant cerebellar ataxias (ADCAs)—commonly referred as spinocerebellar …
autosomal dominant cerebellar ataxias (ADCAs)—commonly referred as spinocerebellar …
[HTML][HTML] Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia
G Koutsis, S Pemble, MG Sweeney, R Paudel… - Journal of the …, 2012 - Elsevier
The relative frequency of different autosomal dominant cerebellar ataxias, commonly
referred to as spinocerebellar ataxias (SCAs), varies considerably among populations of …
referred to as spinocerebellar ataxias (SCAs), varies considerably among populations of …
Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study
H Jacobi, ST Du Montcel, S Romanzetti… - The Lancet …, 2020 - thelancet.com
Summary Background Spinocerebellar ataxias (SCAs) are autosomal dominant
neurodegenerative diseases. Our aim was to study the conversion to manifest ataxia among …
neurodegenerative diseases. Our aim was to study the conversion to manifest ataxia among …