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High MMP-9 activity levels in fragile X syndrome are lowered by minocycline

American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.1897-1903

2013

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CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles

Journal of medical genetics, 2014-05, Vol.51 (5), p.309-318

2014

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CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size

Human molecular genetics, 2014-06, Vol.23 (12), p.3228-3238

2014

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Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome

Neurobiology of aging, 2014-05, Vol.35 (5), p.1189-1197

2014

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The sinoatrial node extracellular matrix promotes pacemaker phenotype and protects automaticity in engineered heart tissues from cyclic strain

Cell reports (Cambridge), 2023-12, Vol.42 (12), p.113505-113505, Article 113505

2023

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Enhanced asynchronous Ca(2+) oscillations associated with impaired glutamate transport in cortical astrocytes expressing Fmr1 gene premutation expansion

The Journal of biological chemistry, 2013-05, Vol.288 (19), p.13831

2013

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Clinical and molecular implications of mosaicism in FMR1 full mutations

Frontiers in genetics, 2014-09, Vol.5, p.318-318

2014

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NODAL inhibition promotes differentiation of pacemaker-like cardiomyocytes from human induced pluripotent stem cells

Stem cell research, 2020-12, Vol.49, p.102043-102043, Article 102043

2020

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Molecular biomarkers predictive of sertraline treatment response in young children with fragile X syndrome

Brain & development (Tokyo. 1979), 2017-06, Vol.39 (6), p.483-492

2017

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Differential increases of specific FMR1 mRNA isoforms in premutation carriers

Journal of medical genetics, 2015-01, Vol.52 (1), p.42-52

2015

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Intranuclear inclusions in a fragile X mosaic male

Translational neurodegeneration, 2013-05, Vol.2 (1), p.10-10, Article 10

2013

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Structural Dynamics and Single-Stranded DNA Binding Activity of the Three N-Terminal Domains of the Large Subunit of Replication Protein A from Small Angle X-ray Scattering

Biochemistry (Easton), 2010-04, Vol.49 (13), p.2880-2889

2010

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NMR Analysis of the Architecture and Functional Remodeling of a Modular Multidomain Protein, RPA

Journal of the American Chemical Society, 2009-05, Vol.131 (18), p.6346-6347

2009

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Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome

Journal of neurodevelopmental disorders, 2014-07, Vol.6 (1), p.25-25, Article 25

2014

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Replication Protein A Stimulates the Werner Syndrome Protein Branch Migration Activity

The Journal of biological chemistry, 2009-12, Vol.284 (50), p.34682-34691

2009

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Screening newborn blood spots for 22q11.2 deletion syndrome using multiplex droplet digital PCR

Clinical chemistry (Baltimore, Md.), 2015-01, Vol.61 (1), p.182-190

2015

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Enhanced Asynchronous Ca2+ Oscillations Associated with Impaired Glutamate Transport in Cortical Astrocytes Expressing Fmr1 Gene Premutation Expansion

The Journal of biological chemistry, 2013-05, Vol.288 (19), p.13831-13841

2013

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High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome

American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.2154-2161

2015

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Human induced pluripotent stem cell line with genetically encoded fluorescent voltage indicator generated via CRISPR for action potential assessment post‐cardiogenesis

Stem cells (Dayton, Ohio), 2020-01, Vol.38 (1), p.90-101

2020

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Reduced EAAT1 and mGluR5 expression in the cerebellum of FMR1 premutation carriers with FXTAS

Neurobiology of aging, 2013-11, Vol.35 (5), p.1189-1197

2013

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NMR Analysis of the Architecture and Functional Remodeling of a Modular Multi-Domain Protein, RPA

Journal of the American Chemical Society, 2009-05, Vol.131 (18), p.6346-6347

2009

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Structural dynamics and ssDNA binding activity of the three N-terminal domains of the large subunit of Replication Protein A from small angle X-ray scattering

Biochemistry (Easton), 2010-04, Vol.49 (13), p.2880-2889

2010

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Identification of the Mouse and Rat Orthologs of the Gene Mutated in Usher Syndrome Type IIA and the Cellular Source of USH2A mRNA in Retina, a Target Tissue of the Disease

Genomics (San Diego, Calif.), 2002-08, Vol.80 (2), p.195-203

2002

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Domain-based structural studies of replication protein A: Analysis of an RPA32N phospho-mimic mutant and the role of RPA70N in binding ssDNA

Pretto Garcia, Dalyir Imelda

2010

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Intranuclear inclusions in a fragile X mosaic male

Translational neurodegeneration, 2013, Vol.2 (1), p.10-10

2013

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High MMP-9 activity levels in fragile X syndrome are lowered by minocycline

CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles

CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size

Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome

The sinoatrial node extracellular matrix promotes pacemaker phenotype and protects automaticity in engineered heart tissues from cyclic strain

Enhanced asynchronous Ca(2+) oscillations associated with impaired glutamate transport in cortical astrocytes expressing Fmr1 gene premutation expansion

Clinical and molecular implications of mosaicism in FMR1 full mutations

NODAL inhibition promotes differentiation of pacemaker-like cardiomyocytes from human induced pluripotent stem cells

Molecular biomarkers predictive of sertraline treatment response in young children with fragile X syndrome

Differential increases of specific FMR1 mRNA isoforms in premutation carriers

Intranuclear inclusions in a fragile X mosaic male

Structural Dynamics and Single-Stranded DNA Binding Activity of the Three N-Terminal Domains of the Large Subunit of Replication Protein A from Small Angle X-ray Scattering

NMR Analysis of the Architecture and Functional Remodeling of a Modular Multidomain Protein, RPA

Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome

Replication Protein A Stimulates the Werner Syndrome Protein Branch Migration Activity

Screening newborn blood spots for 22q11.2 deletion syndrome using multiplex droplet digital PCR

Enhanced Asynchronous Ca2+ Oscillations Associated with Impaired Glutamate Transport in Cortical Astrocytes Expressing Fmr1 Gene Premutation Expansion

High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome

Human induced pluripotent stem cell line with genetically encoded fluorescent voltage indicator generated via CRISPR for action potential assessment post‐cardiogenesis

Reduced EAAT1 and mGluR5 expression in the cerebellum of FMR1 premutation carriers with FXTAS

NMR Analysis of the Architecture and Functional Remodeling of a Modular Multi-Domain Protein, RPA

Structural dynamics and ssDNA binding activity of the three N-terminal domains of the large subunit of Replication Protein A from small angle X-ray scattering

Identification of the Mouse and Rat Orthologs of the Gene Mutated in Usher Syndrome Type IIA and the Cellular Source of USH2A mRNA in Retina, a Target Tissue of the Disease

Domain-based structural studies of replication protein A: Analysis of an RPA32N phospho-mimic mutant and the role of RPA70N in binding ssDNA

Intranuclear inclusions in a fragile X mosaic male

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