Sanjay Bidichandani to Friedreich Ataxia
This is a "connection" page, showing publications Sanjay Bidichandani has written about Friedreich Ataxia.
Connection Strength
8.376
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FXN protomutations are the source of pathogenic expanded GAA alleles in Friedreich ataxia and explain its unequal population distribution. Hum Mol Genet. 2026 Jun 09; 35(11).
Score: 0.934
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Unrecognized high prevalence of expanded composite repeats in Friedreich ataxia. Hum Mol Genet. 2026 Feb 10; 35(3).
Score: 0.913
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DNA methylation in Friedreich ataxia silences expression of frataxin isoform E. Sci Rep. 2022 03 23; 12(1):5031.
Score: 0.697
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Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia. Hum Mol Genet. 2021 02 04; 29(23):3818-3829.
Score: 0.645
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Friedreich ataxia- pathogenesis and implications for therapies. Neurobiol Dis. 2019 12; 132:104606.
Score: 0.585
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Reversal of epigenetic promoter silencing in Friedreich ataxia by a class I histone deacetylase inhibitor. Nucleic Acids Res. 2016 06 20; 44(11):5095-104.
Score: 0.457
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FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia. PLoS One. 2015; 10(9):e0138437.
Score: 0.444
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Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length. Ann Neurol. 2014 Oct; 76(4):522-8.
Score: 0.413
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Altered nucleosome positioning at the transcription start site and deficient transcriptional initiation in Friedreich ataxia. J Biol Chem. 2014 May 30; 289(22):15194-202.
Score: 0.402
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Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription. PLoS One. 2009 Nov 19; 4(11):e7914.
Score: 0.296
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Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. Genomics. 2007 Jul; 90(1):1-5.
Score: 0.249
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Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients. Ann Neurol. 2007 Jan; 61(1):55-60.
Score: 0.243
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Clinical heterogeneity of recessive ataxia in the Mexican population. J Neurol Neurosurg Psychiatry. 2006 Dec; 77(12):1370-2.
Score: 0.241
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Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles. Ann Neurol. 2004 Dec; 56(6):898-901.
Score: 0.210
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Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia. Nucleic Acids Res. 2004; 32(19):5962-71.
Score: 0.209
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Genetic admixture of European FRDA genes is the cause of Friedreich ataxia in the Mexican population. Genomics. 2004 Nov; 84(5):779-84.
Score: 0.209
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The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions. Hum Mol Genet. 2002 Sep 01; 11(18):2175-87.
Score: 0.180
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Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions. Arch Neurol. 2000 Feb; 57(2):246-51.
Score: 0.150
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Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence. Hum Mol Genet. 1999 Dec; 8(13):2425-36.
Score: 0.149
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The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am J Hum Genet. 1998 Jan; 62(1):111-21.
Score: 0.130
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Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. Am J Hum Genet. 1997 May; 60(5):1251-6.
Score: 0.124
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Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues. PLoS One. 2012; 7(10):e47085.
Score: 0.091
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E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA.TTC)(n) sequence. Mutat Res. 2009 Feb 10; 661(1-2):71-7.
Score: 0.069
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Deficiency of RecA-dependent RecFOR and RecBCD pathways causes increased instability of the (GAA*TTC)n sequence when GAA is the lagging strand template. Nucleic Acids Res. 2007; 35(20):6884-94.
Score: 0.064
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The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model. Hum Genet. 2007 Jan; 120(5):633-40.
Score: 0.060
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Expansion of GAA trinucleotide repeats in mammals. Genomics. 2006 Jan; 87(1):57-67.
Score: 0.056
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Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu. Genomics. 2004 Mar; 83(3):373-83.
Score: 0.050
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A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism. Muscle Nerve. 1998 Mar; 21(3):390-3.
Score: 0.033
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Frataxin fracas. Nat Genet. 1997 Apr; 15(4):337-8.
Score: 0.031
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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996 Mar 08; 271(5254):1423-7.
Score: 0.029
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Length-dependent structure formation in Friedreich ataxia (GAA)n*(TTC)n repeats at neutral pH. Nucleic Acids Res. 2004; 32(3):1224-31.
Score: 0.012