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Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration

Nature communications, 2018-09, Vol.9 (1), p.3648-14, Article 3648

2018

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Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots

Genetics in medicine, 2021-03, Vol.23 (3), p.555-561

2021

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Staufen 1 amplifies proapoptotic activation of the unfolded protein response

Cell death and differentiation, 2020-10, Vol.27 (10), p.2942-2951

2020

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Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening

Genetics in medicine, 2021-04, Vol.23 (4), p.767-776

2021

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Correction: Generation of SNCA Cell Models Using Zinc Finger Nuclease (ZFN) Technology for Efficient High-Throughput Drug Screening

PloS one, 2021-08, Vol.16 (8), p.e0256366-e0256366

2021

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Gene co-expression network analysis for identifying modules and functionally enriched pathways in SCA2

Human molecular genetics, 2017-08, Vol.26 (16), p.3069-3080

2017

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Ataxin-2 regulates RGS8 translation in a new BAC-SCA2 transgenic mouse model

PLoS genetics, 2015-04, Vol.11 (4), p.e1005182-e1005182

2015

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Correction: Staufen 1 amplifies proapoptotic activation of the unfolded protein response

Cell death and differentiation, 2021-01, Vol.28 (12), p.3374-3374

2021

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MBNL1 Is the Primary Determinant of Focus Formation and Aberrant Insulin Receptor Splicing in DM1

The Journal of biological chemistry, 2005-02, Vol.280 (7), p.5773-5780

2005

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Expanded CUG Repeats Dysregulate RNA Splicing by Altering the Stoichiometry of the Muscleblind 1 Complex

The Journal of biological chemistry, 2011-11, Vol.286 (44), p.38427-38438

2011

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Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG Repeat

PloS one, 2015-06, Vol.10 (6), p.e0128769

2015

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RNA splicing is responsive to MBNL1 dose

PloS one, 2012-11, Vol.7 (11), p.e48825

2012

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Generation of SNCA Cell Models Using Zinc Finger Nuclease (ZFN) Technology for Efficient High-Throughput Drug Screening

PloS one, 2015-08, Vol.10 (8), p.e0136930

2015

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Interaction of musleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing

The EMBO journal, 2006-09, Vol.25 (18), p.4271-4283

2006

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Spontaneous shaker rat mutant - a new model for X-linked tremor/ataxia

Disease models & mechanisms, 2016-05, Vol.9 (5), p.553-562

2016

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Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy

PloS one, 2010-03, Vol.5 (3), p.e9857-e9857

2010

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Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features

PloS one, 2008-12, Vol.3 (12), p.e3968-e3968

2008

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Muscleblind-Like 1 and Muscleblind-Like 3 Depletion Synergistically Enhances Myotonia by Altering Clc-1 RNA Translation

EBioMedicine, 2015-09, Vol.2 (9), p.1034-1047

2015

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Co-expression networks in generation of induced pluripotent stem cells

Biology open, 2016-03, Vol.5 (3), p.300-310

2016

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Antisense oligonucleotide therapy for spinocerebellar ataxia type 2

Nature (London), 2017-04, Vol.544 (7650), p.362-366

2017

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Staufen1 in Human Neurodegeneration

Annals of neurology, 2021-06, Vol.89 (6), p.1114-1128

2021

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Correction: Generation of SNCA Cell Models Using Zinc Finger Nuclease

PloS one, 2021-08, Vol.16 (8), p.e0256366

2021

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Staufen Impairs Autophagy in Neurodegeneration

Annals of neurology, 2023-02, Vol.93 (2), p.398-416

2023

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Slc9a6 mutation causes Purkinje cell loss and ataxia in the shaker rat

Human molecular genetics, 2023-05, Vol.32 (10), p.1647-1659

2023

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ALS-associated genes in SCA2 mouse spinal cord transcriptomes

Human molecular genetics, 2020-06, Vol.29 (10), p.1658-1672

2020

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Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration

Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots

Staufen 1 amplifies proapoptotic activation of the unfolded protein response

Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening

Correction: Generation of SNCA Cell Models Using Zinc Finger Nuclease (ZFN) Technology for Efficient High-Throughput Drug Screening

Gene co-expression network analysis for identifying modules and functionally enriched pathways in SCA2

Ataxin-2 regulates RGS8 translation in a new BAC-SCA2 transgenic mouse model

Correction: Staufen 1 amplifies proapoptotic activation of the unfolded protein response

MBNL1 Is the Primary Determinant of Focus Formation and Aberrant Insulin Receptor Splicing in DM1

Expanded CUG Repeats Dysregulate RNA Splicing by Altering the Stoichiometry of the Muscleblind 1 Complex

Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG Repeat

RNA splicing is responsive to MBNL1 dose

Generation of SNCA Cell Models Using Zinc Finger Nuclease (ZFN) Technology for Efficient High-Throughput Drug Screening

Interaction of musleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing

Spontaneous shaker rat mutant - a new model for X-linked tremor/ataxia

Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy

Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features

Muscleblind-Like 1 and Muscleblind-Like 3 Depletion Synergistically Enhances Myotonia by Altering Clc-1 RNA Translation

Co-expression networks in generation of induced pluripotent stem cells

Antisense oligonucleotide therapy for spinocerebellar ataxia type 2

Staufen1 in Human Neurodegeneration

Correction: Generation of SNCA Cell Models Using Zinc Finger Nuclease

Staufen Impairs Autophagy in Neurodegeneration

Slc9a6 mutation causes Purkinje cell loss and ataxia in the shaker rat

ALS-associated genes in SCA2 mouse spinal cord transcriptomes

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