Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages.
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Friedreich ataxia: an overviewCardiomyopathy in Friedreich ataxia: clinical findings and researchLong range regulation of human FXN gene expressionFriedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.Cardiomyopathy of Friedreich's ataxia: use of mouse models to understand human disease and guide therapeutic development.The Heart in Friedreich's Ataxia: Basic Findings and Clinical Implications.Incidence in Italy, genetic heterogeneity, and segregation analysis of cystic fibrosis.Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeatLikelihood methods for locating disease genes in nonequilibrium populations.A TAT-frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse modelRecombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval.Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.Friedreich ataxia in Italian families: genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15.Effects of Friedreich's ataxia (GAA)n*(TTC)n repeats on RNA synthesis and stability.The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.Friedreich ataxia (FA) associated with diabetes mellitus type 1 and hyperthrophic cardiomyopathy.Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population.
P2860
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P2860
Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages.
description
1983 nî lūn-bûn
@nan
1983 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1983 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1983年の論文
@ja
1983年学术文章
@wuu
1983年学术文章
@zh-cn
1983年学术文章
@zh-hans
1983年学术文章
@zh-my
1983年学术文章
@zh-sg
1983年學術文章
@yue
name
Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages.
@ast
Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages.
@en
type
label
Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages.
@ast
Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages.
@en
prefLabel
Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages.
@ast
Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages.
@en
P2093
P2860
P1476
Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages
@en
P2093
Campanella G
Capodaglio L
Di Donato S
P2860
P304
P407
P577
1983-05-01T00:00:00Z