Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay.
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A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial designRepeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizuresSpinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease.Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study.Molecular diagnosis of neurogenetic disorders involving trinucleotide repeat expansions.Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy.Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability.Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay.Comparison of Two Different PCR-based Methods for Detection of GAA Expansions in Frataxin Gene.Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2).North and South Indian populations share a common ancestral origin of Friedreich's ataxia but vary in age of GAA repeat expansion.Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes.Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes.Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil.Pentanucleotide repeat-primed PCR for genetic diagnosis of spinocerebellar ataxia type 31.A novel trinucleotide repeat expansion at chromosome 3q26.2 identified by a CAG/CTG repeat expansion detection array.Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3).FXTAS, SCA10, and SCA17 in American patients with movement disorders.Long-range PCR for the diagnosis of spinocerebellar ataxia type 10.Molecular Diagnosis of Friedreich Ataxia Using Analysis of GAA Repeats andFXNGene Exons in Population from Western India
P2860
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P2860
Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Detection of large pathogenic ...... scent repeat-primed PCR assay.
@ast
Detection of large pathogenic ...... scent repeat-primed PCR assay.
@en
type
label
Detection of large pathogenic ...... scent repeat-primed PCR assay.
@ast
Detection of large pathogenic ...... scent repeat-primed PCR assay.
@en
prefLabel
Detection of large pathogenic ...... scent repeat-primed PCR assay.
@ast
Detection of large pathogenic ...... scent repeat-primed PCR assay.
@en
P2093
P2860
P1476
Detection of large pathogenic ...... scent repeat-primed PCR assay.
@en
P2093
Alfredo Brusco
Chiara Michielotto
Cinzia Gellera
Claudia Cagnoli
Nicola Migone
Russell L Margolis
Susan E Holmes
Tetsuo Ashizawa
Tohru Matsuura
P2860
P304
P356
10.1016/S1525-1578(10)60496-5
P577
2004-05-01T00:00:00Z