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Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

The EMBO journal, 2010-04, Vol.29 (7), p.1248-1261

2010

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Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?

European journal of medical genetics, 2018-11, Vol.61 (11), p.674-679

2018

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Short antisense oligonucleotides alleviate the pleiotropic toxicity of RNA harboring expanded CGG repeats

Nature communications, 2021-02, Vol.12 (1), p.1265-17, Article 1265

2021

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Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS

Human molecular genetics, 2015-09, Vol.24 (17), p.4948-4957

2015

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An Integrative Study of Protein-RNA Condensates Identifies Scaffolding RNAs and Reveals Players in Fragile X-Associated Tremor/Ataxia Syndrome

Cell reports (Cambridge), 2018-12, Vol.25 (12), p.3422-3434.e7

2018

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Refining the Spectrum of Neuronal Intranuclear Inclusion Disease: A Case Report

Journal of neuropathology and experimental neurology, 2019-07, Vol.78 (7), p.665-670

2019

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Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation

Human molecular genetics, 2021-08, Vol.30 (17), p.1632-1648

2021

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Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS

Molecular therapy. Nucleic acids, 2019-12, Vol.18, p.546-553

2019

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The quest for targeted therapy in fragile X syndrome

Expert opinion on therapeutic targets, 2015-10, Vol.19 (10), p.1277-1281

2015

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Inducible expression of human C9ORF72 36× G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice

Disease models & mechanisms, 2021-02, Vol.14 (2)

2021

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Gustatory Plasticity in "C. elegans" Involves Integration of Negative Cues and NaCl Taste Mediated by Serotonin, Dopamine, and Glutamate

Learning & memory (Cold Spring Harbor, N.Y.), 2008-11, Vol.15 (11), p.829-836

2008

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Combination Therapy in Fragile X Syndrome; Possibilities and Pitfalls Illustrated by Targeting the mGluR5 and GABA Pathway Simultaneously

Frontiers in molecular neuroscience, 2017-11, Vol.10, p.368-368

2017

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Implementing Advance Care Planning and Care Coordination in the Care for People With Parkinson Disease: A Feasibility Study

The Journal of neuroscience nursing, 2024-10, Vol.56 (5), p.174-179

2024

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FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

Acta neuropathologica communications, 2014-11, Vol.2 (1), p.162-162, Article 162

2014

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Induced expression of expanded CGG RNA causes mitochondrial dysfunction in vivo

Cell cycle (Georgetown, Tex.), 2014-08, Vol.13 (16), p.2600-2608

2014

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Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome

Human molecular genetics, 2017-06, Vol.26 (11), p.2133-2145

2017

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Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice

Acta neuropathologica, 2011-10, Vol.122 (4), p.467-479

2011

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FBXO7 Immunoreactivity in α-Synuclein–Containing Inclusions in Parkinson Disease and Multiple System Atrophy

Journal of neuropathology and experimental neurology, 2013-06, Vol.72 (6), p.482-488

2013

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CGG‐repeat length and neuropathological and molecular correlates in a mouse model for fragile X‐associated tremor/ataxia syndrome

Journal of neurochemistry, 2008-12, Vol.107 (6), p.1671-1682

2008

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In silico, in vitro , and in vivo Approaches to Identify Molecular Players in Fragile X Tremor and Ataxia Syndrome

Frontiers in molecular biosciences, 2020-03, Vol.7, p.31-31

2020

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Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)

Journal of neurodevelopmental disorders, 2014-08, Vol.6 (1), p.26-26, Article 26

2014

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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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The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

Brain (London, England : 1878), 2012-03, Vol.135 (Pt 3), p.723-735

2012

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PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology

Brain (London, England : 1878), 2014-05, Vol.137 (5), p.1361-1373

2014

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Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?

Short antisense oligonucleotides alleviate the pleiotropic toxicity of RNA harboring expanded CGG repeats

Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS

An Integrative Study of Protein-RNA Condensates Identifies Scaffolding RNAs and Reveals Players in Fragile X-Associated Tremor/Ataxia Syndrome

Refining the Spectrum of Neuronal Intranuclear Inclusion Disease: A Case Report

Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation

Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS

The quest for targeted therapy in fragile X syndrome

Inducible expression of human C9ORF72 36× G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice

Gustatory Plasticity in "C. elegans" Involves Integration of Negative Cues and NaCl Taste Mediated by Serotonin, Dopamine, and Glutamate

Combination Therapy in Fragile X Syndrome; Possibilities and Pitfalls Illustrated by Targeting the mGluR5 and GABA Pathway Simultaneously

Implementing Advance Care Planning and Care Coordination in the Care for People With Parkinson Disease: A Feasibility Study

FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

Induced expression of expanded CGG RNA causes mitochondrial dysfunction in vivo

Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome

Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice

FBXO7 Immunoreactivity in α-Synuclein–Containing Inclusions in Parkinson Disease and Multiple System Atrophy

CGG‐repeat length and neuropathological and molecular correlates in a mouse model for fragile X‐associated tremor/ataxia syndrome

In silico, in vitro , and in vivo Approaches to Identify Molecular Players in Fragile X Tremor and Ataxia Syndrome

Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)

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

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology

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