Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?
about
Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10Comparative genomics and molecular dynamics of DNA repeats in eukaryotesMicrosatellite interruptions stabilize primate genomes and exist as population-specific single nucleotide polymorphisms within individual human genomesAncestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansionsRepeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizuresSpinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients.Expansion of the Spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestryA matter of life or death: how microsatellites emerge in and vanish from the human genome.SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion StructureTransgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: a toxic RNA gain-of-function model.The Repeat Expansion Diseases: The dark side of DNA repair.Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.Transgenic models of spinocerebellar ataxia type 10: modeling a repeat expansion disorder.Spinocerebellar ataxia type 10: from Amerindians to Latin Americans.Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits.Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.RNA toxicity and foci formation in microsatellite expansion diseases.HeteroGenome: database of genome periodicity.Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability.A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.Intrinsic Disorder in Proteins with Pathogenic Repeat Expansions.Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions.Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil.Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations.Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease
P2860
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P2860
Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?
description
2005 nî lūn-bûn
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2005 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Interruptions in the expanded ...... purity as a disease modifier?
@ast
Interruptions in the expanded ...... purity as a disease modifier?
@en
Interruptions in the expanded ...... purity as a disease modifier?
@en-gb
Interruptions in the expanded ...... purity as a disease modifier?
@nl
type
label
Interruptions in the expanded ...... purity as a disease modifier?
@ast
Interruptions in the expanded ...... purity as a disease modifier?
@en
Interruptions in the expanded ...... purity as a disease modifier?
@en-gb
Interruptions in the expanded ...... purity as a disease modifier?
@nl
prefLabel
Interruptions in the expanded ...... purity as a disease modifier?
@ast
Interruptions in the expanded ...... purity as a disease modifier?
@en
Interruptions in the expanded ...... purity as a disease modifier?
@en-gb
Interruptions in the expanded ...... purity as a disease modifier?
@nl
P2093
P2860
P921
P356
P1476
Interruptions in the expanded ...... purity as a disease modifier?
@en
P2093
Benjamin B Roa
Christopher E Pearson
David L Nelson
Parul Jayakar
Tetsuo Ashizawa
Tohru Matsuura
P2860
P304
P356
10.1086/498654
P407
P577
2005-11-15T00:00:00Z