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Repeat instability as the basis for human diseases and as a potential target for therapy

Nature reviews. Molecular cell biology, 2010-03, Vol.11 (3), p.165

2010

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Impeding Transcription of Expanded Microsatellite Repeats by Deactivated Cas9

Molecular cell, 2017-11, Vol.68 (3), p.479-490.e5

2017

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Repeat instability: mechanisms of dynamic mutations

Nature reviews. Genetics, 2005-10, Vol.6 (10), p.729-742

2005

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Effect of Candida glabrata FKS1 and FKS2 Mutations on Echinocandin Sensitivity and Kinetics of 1,3-β-d-Glucan Synthase: Implication for the Existing Susceptibility Breakpoint

Antimicrobial Agents and Chemotherapy, 2009-09, Vol.53 (9), p.3690-3699

2009

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RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2

Neuron (Cambridge, Mass.), 2017-09, Vol.95 (6), p.1292-1305.e5

2017

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Intron retention induced by microsatellite expansions as a disease biomarker

Proceedings of the National Academy of Sciences - PNAS, 2018-04, Vol.115 (16), p.4234-4239

2018

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The alternative initiation factor eIF2A plays key role in RAN translation of myotonic dystrophy type 2 CCUG•CAGG repeats

Human molecular genetics, 2021-05, Vol.30 (11), p.1020-1029

2021

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Mitigating RNA Toxicity in Myotonic Dystrophy using Small Molecules

International journal of molecular sciences, 2019-08, Vol.20 (16), p.4017

2019

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A CTG repeat-selective chemical screen identifies microtubule inhibitors as selective modulators of toxic CUG RNA levels

Proceedings of the National Academy of Sciences - PNAS, 2019-10, Vol.116 (42), p.20991-21000

2019

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The potential of engineered eukaryotic RNA‐binding proteins as molecular tools and therapeutics

Wiley interdisciplinary reviews. RNA, 2020-01, Vol.11 (1), p.e1573-n/a

2020

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Reduced Candida glabrata Susceptibility Secondary to an FKS1 Mutation Developed during Candidemia Treatment

Antimicrobial Agents and Chemotherapy, 2008-06, Vol.52 (6), p.2263-2265

2008

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Altered levels of the splicing factor muscleblind modifies cerebral cortical function in mouse models of myotonic dystrophy

Neurobiology of disease, 2018-04, Vol.112, p.35-48

2018

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CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination

PLoS genetics, 2008-11, Vol.4 (11), p.e1000257-e1000257

2008

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Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus

Nature structural & molecular biology, 2010-09, Vol.17 (9), p.1079

2010

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Delivery of antifungal agents using bioactive and nonbioactive bone cements

The Annals of pharmacotherapy, 2009-10, Vol.43 (10), p.1606

2009

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Repeat-associated non-ATG (RAN) translation in neurological disease

Human molecular genetics, 2013-10, Vol.22 (R1), p.R45-R51

2013

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Genome-wide Expression Profiling of the Response to Polyene, Pyrimidine, Azole, and Echinocandin Antifungal Agents in Saccharomyces cerevisiae

The Journal of biological chemistry, 2003-09, Vol.278 (37), p.34998-35015

2003

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Therapeutic strategies for C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia

Current opinion in neurology, 2021-10, Vol.34 (5), p.748

2021

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Alternative Splicing Outcomes Across an RNA-Binding Protein Concentration Gradient

Journal of molecular biology, 2023-08, Vol.435 (15), p.168156-168156, Article 168156

2023

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Drug–laboratory interaction between beta-lactam antibiotics and the galactomannan antigen test used to detect mould infections

The Brazilian journal of infectious diseases, 2014-09, Vol.18 (5), p.544-547

2014

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Evaluation of a Positive Yeast-in-Blood Service

The American journal of the medical sciences, 2014-07, Vol.348 (1), p.43-46

2014

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Voriconazole: a new triazole antifungal agent

The Annals of pharmacotherapy, 2003-03, Vol.37 (3), p.420

2003

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Widespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxias

Brain (London, England : 1878), 2024-02, Vol.147 (2), p.486-504

2024

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Antifungal-Associated Drug-Induced Cardiac Disease

Clinical infectious diseases, 2015-12, Vol.61 (suppl_6), p.S662-S668

2015

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All in the Family: Repeats and ALS/FTD

Trends in neurosciences (Regular ed.), 2018-05, Vol.41 (5), p.247-250

2018

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Repeat instability as the basis for human diseases and as a potential target for therapy

Impeding Transcription of Expanded Microsatellite Repeats by Deactivated Cas9

Repeat instability: mechanisms of dynamic mutations

Effect of Candida glabrata FKS1 and FKS2 Mutations on Echinocandin Sensitivity and Kinetics of 1,3-β-d-Glucan Synthase: Implication for the Existing Susceptibility Breakpoint

RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2

Intron retention induced by microsatellite expansions as a disease biomarker

The alternative initiation factor eIF2A plays key role in RAN translation of myotonic dystrophy type 2 CCUG•CAGG repeats

Mitigating RNA Toxicity in Myotonic Dystrophy using Small Molecules

A CTG repeat-selective chemical screen identifies microtubule inhibitors as selective modulators of toxic CUG RNA levels

The potential of engineered eukaryotic RNA‐binding proteins as molecular tools and therapeutics

Reduced Candida glabrata Susceptibility Secondary to an FKS1 Mutation Developed during Candidemia Treatment

Altered levels of the splicing factor muscleblind modifies cerebral cortical function in mouse models of myotonic dystrophy

CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination

Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus

Delivery of antifungal agents using bioactive and nonbioactive bone cements

Repeat-associated non-ATG (RAN) translation in neurological disease

Genome-wide Expression Profiling of the Response to Polyene, Pyrimidine, Azole, and Echinocandin Antifungal Agents in Saccharomyces cerevisiae

Therapeutic strategies for C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia

Alternative Splicing Outcomes Across an RNA-Binding Protein Concentration Gradient

Drug–laboratory interaction between beta-lactam antibiotics and the galactomannan antigen test used to detect mould infections

Evaluation of a Positive Yeast-in-Blood Service

Voriconazole: a new triazole antifungal agent

Widespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxias

Antifungal-Associated Drug-Induced Cardiac Disease

All in the Family: Repeats and ALS/FTD

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