scholarly article | Q13442814 |
P356 | DOI | 10.1002/HUMU.20075 |
P698 | PubMed publication ID | 15300851 |
P50 | author | Włodzimierz Krzyżosiak | Q9382702 |
Krzysztof Sobczak | Q50202410 | ||
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Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group | Q44511991 | ||
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Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases? | Q45305198 | ||
Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles | Q47192550 | ||
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Regional differences in genetic subgroup frequency in hereditary cerebellar ataxia, and a morphometrical study of brain MR images in SCA1, MJD and SCA6. | Q48166152 | ||
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates | Q48486744 | ||
Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability. | Q51975377 | ||
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. | Q52025538 | ||
Interruptions in the Triplet Repeats of SCA1 and FRAXA Reduce the Propensity and Complexity of Slipped Strand DNA (S-DNA) Formation† | Q56909185 | ||
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Spinocerebellar ataxia type 1 in China: molecular analysis and genotype-phenotype correlation in 5 families | Q73860798 | ||
Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion | Q73884484 | ||
Population variation analysis at nine loci containing expressed trinucleotide repeats | Q74154962 | ||
Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India | Q74170871 | ||
Neurodegenerative diseases. Origins of instability | Q74220077 | ||
Possible association between schizophrenia and a CAG repeat polymorphism in the spinocerebellar ataxia type 1 (SCA1) gene on human chromosome 6p23 | Q77768903 | ||
Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families | Q78081110 | ||
P433 | issue | 3 | |
P304 | page(s) | 236-247 | |
P577 | publication date | 2004-09-01 | |
P1433 | published in | Human Mutation | Q5937269 |
P1476 | title | Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability | |
P478 | volume | 24 |
Q35581548 | A matter of life or death: how microsatellites emerge in and vanish from the human genome |
Q57305142 | A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus |
Q36651700 | Androgen receptor polyglutamine repeat number: models of selection and disease susceptibility |
Q24317006 | Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways |
Q35119694 | Ataxin-2 repeat-length variation and neurodegeneration |
Q33752268 | Bovine proteins containing poly-glutamine repeats are often polymorphic and enriched for components of transcriptional regulatory complexes. |
Q79568360 | CAG and CTG repeat polymorphism in exons of human genes shows distinct features at the expandable loci |
Q33285435 | CAG-encoded polyglutamine length polymorphism in the human genome |
Q37716781 | Chaperones in Polyglutamine Aggregation: Beyond the Q-Stretch. |
Q34329735 | Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. |
Q54544840 | Direct and accurate measurement of CAG repeat configuration in the ataxin-1 (ATXN-1) gene by "dual-fluorescence labeled PCR-restriction fragment length analysis". |
Q28069787 | Expansion, mosaicism and interruption: mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1 |
Q54478897 | Increased negative superhelical density in vivo enhances the genetic instability of triplet repeat sequences. |
Q81140965 | Insights into the mutational history and prevalence of SCA1 in the Indian population through anchored polymorphisms |
Q47351608 | Intrinsic Disorder in Proteins with Pathogenic Repeat Expansions. |
Q47985665 | Large normal alleles and SCA2 prevalence: lessons from a nationwide study and analysis of the literature |
Q50867910 | Large normal and intermediate alleles in the context of SCA2 prenatal diagnosis. |
Q33333636 | Microsatellite evolution: Mutations, sequence variation, and homoplasy in the hypervariable avian microsatellite locus HrU10 |
Q28540820 | Microsatellite interruptions stabilize primate genomes and exist as population-specific single nucleotide polymorphisms within individual human genomes |
Q39605747 | Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference |
Q33791247 | Oligonucleotide-based strategies to combat polyglutamine diseases |
Q34152667 | Polyglutamine repeats are associated to specific sequence biases that are conserved among eukaryotes. |
Q24810496 | Positive selection of a pre-expansion CAG repeat of the human SCA2 gene |
Q36859984 | RNA toxicity in polyglutamine disorders: concepts, models, and progress of research |
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Q34917022 | The role of interruptions in polyQ in the pathology of SCA1. |
Q35633648 | Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target |
Q35603679 | Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles |
Q89029766 | WITHDRAWN: Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients |
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