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GlcNAc-Asn is a biomarker for NGLY1 deficiency

Journal of biochemistry (Tokyo), 2022-02, Vol.171 (2), p.177-186

2022

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Position-dependent splicing activation and repression by SR and hnRNP proteins rely on common mechanisms

RNA (Cambridge), 2013-01, Vol.19 (1), p.96-102

2013

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Biological plasticity rescues target activity in CRISPR knock outs

Nature methods, 2019-11, Vol.16 (11), p.1087-1093

2019

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Gut barrier defects, intestinal immune hyperactivation and enhanced lipid catabolism drive lethality in NGLY1-deficient Drosophila

Nature communications, 2023-09, Vol.14 (1), p.5667-16, Article 5667

2023

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The chromatin regulator Brg1 suppresses formation of intraductal papillary mucinous neoplasm and pancreatic ductal adenocarcinoma

Nature cell biology, 2014-03, Vol.16 (3), p.255-267

2014

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In-mask temperature and humidity can validate respirator wear-time and indicate lung health status

Journal of exposure science & environmental epidemiology, 2019-06, Vol.29 (4), p.578-583

2019

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Longitudinal changes in proportionate mortality due to COVID-19 by occupation in England and Wales

Scandinavian journal of work, environment & health, 2022-11, Vol.48 (8), p.611-620

2022

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Liver-specific deletion of Ngly1 causes abnormal nuclear morphology and lipid metabolism under food stress

Biochimica et biophysica acta. Molecular basis of disease, 2020-03, Vol.1866 (3), p.165588-165588, Article 165588

2020

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Patient-derived gene and protein expression signatures of NGLY1 deficiency

Journal of biochemistry (Tokyo), 2022-02, Vol.171 (2), p.187-199

2022

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Inhibition of NGLY1 Inactivates the Transcription Factor Nrf1 and Potentiates Proteasome Inhibitor Cytotoxicity

ACS central science, 2017-11, Vol.3 (11), p.1143-1155

2017

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How can exposure assessment for pesticides in epidemiological studies be improved? Insights from the IMPRESS project

Environment international, 2024-10, Vol.192, p.109013, Article 109013

2024

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NGLY1 deficiency: a prospective natural history study

Human molecular genetics, 2023-09, Vol.32 (18), p.2787-2796

2023

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Self-reported and urinary biomarker-based measures of exposure to glyphosate and mancozeb and sleep problems among smallholder farmers in Uganda

Environment international, 2023-12, Vol.182, p.108277-108277, Article 108277

2023

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The effectiveness of respiratory protection worn by communities to protect from volcanic ash inhalation. Part I: Filtration efficiency tests

International journal of hygiene and environmental health, 2018-07, Vol.221 (6), p.967-976

2018

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The Silent Sway of Splicing by Synonymous Substitutions

The Journal of biological chemistry, 2015-11, Vol.290 (46), p.27700-27711

2015

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Development of a standard operating procedure for the DCFH2-DA acellular assessment of reactive oxygen species produced by nanomaterials

Toxicology mechanisms and methods, 2022-07, Vol.32 (6), p.439-452

2022

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In Utero Exposure to Particulate Air Pollution during Pregnancy: Impact on Birth Weight and Health through the Life Course

International journal of environmental research and public health, 2020-12, Vol.17 (23), p.8948

2020

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The effectiveness of respiratory protection worn by communities to protect from volcanic ash inhalation. Part II: Total inward leakage tests

International journal of hygiene and environmental health, 2018-07, Vol.221 (6), p.977-984

2018

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Saltwater intrusion and human health risks for coastal populations under 2050 climate scenarios

Scientific reports, 2024-07, Vol.14 (1), p.15881-6, Article 15881

2024

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Occupation and SARS-CoV-2 in Europe: a review

European respiratory review, 2024-07, Vol.33 (173), p.240044

2024

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A health impact assessment of long-term exposure to particulate air pollution in Thailand

Environmental research letters, 2021-05, Vol.16 (5), p.55018

2021

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If the mask fits: Facial dimensions and mask performance

International journal of industrial ergonomics, 2019-07, Vol.72, p.308-310

2019

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AAV9-NGLY1 gene replacement therapy improves phenotypic and biomarker endpoints in a rat model of NGLY1 Deficiency

Molecular therapy. Methods & clinical development, 2022-12, Vol.27, p.259-271

2022

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Long-term follow-up on HIV infected and non-infected women with cervical cancer from Tanzania: staging, access to cancer-directed therapies and associated survival in a real-life remote setting

BMC cancer, 2022-08, Vol.22 (1), p.1-892, Article 892

2022

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The effectiveness of recycling policy options: Waste diversion or just diversions?

Waste management (Elmsford), 2013-03, Vol.33 (3), p.508-518

Mueller, William

2013

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GlcNAc-Asn is a biomarker for NGLY1 deficiency

Position-dependent splicing activation and repression by SR and hnRNP proteins rely on common mechanisms

Biological plasticity rescues target activity in CRISPR knock outs

Gut barrier defects, intestinal immune hyperactivation and enhanced lipid catabolism drive lethality in NGLY1-deficient Drosophila

The chromatin regulator Brg1 suppresses formation of intraductal papillary mucinous neoplasm and pancreatic ductal adenocarcinoma

In-mask temperature and humidity can validate respirator wear-time and indicate lung health status

Longitudinal changes in proportionate mortality due to COVID-19 by occupation in England and Wales

Liver-specific deletion of Ngly1 causes abnormal nuclear morphology and lipid metabolism under food stress

Patient-derived gene and protein expression signatures of NGLY1 deficiency

Inhibition of NGLY1 Inactivates the Transcription Factor Nrf1 and Potentiates Proteasome Inhibitor Cytotoxicity

How can exposure assessment for pesticides in epidemiological studies be improved? Insights from the IMPRESS project

NGLY1 deficiency: a prospective natural history study

Self-reported and urinary biomarker-based measures of exposure to glyphosate and mancozeb and sleep problems among smallholder farmers in Uganda

The effectiveness of respiratory protection worn by communities to protect from volcanic ash inhalation. Part I: Filtration efficiency tests

The Silent Sway of Splicing by Synonymous Substitutions

Development of a standard operating procedure for the DCFH2-DA acellular assessment of reactive oxygen species produced by nanomaterials

In Utero Exposure to Particulate Air Pollution during Pregnancy: Impact on Birth Weight and Health through the Life Course

The effectiveness of respiratory protection worn by communities to protect from volcanic ash inhalation. Part II: Total inward leakage tests

Saltwater intrusion and human health risks for coastal populations under 2050 climate scenarios

Occupation and SARS-CoV-2 in Europe: a review

A health impact assessment of long-term exposure to particulate air pollution in Thailand

If the mask fits: Facial dimensions and mask performance

AAV9-NGLY1 gene replacement therapy improves phenotypic and biomarker endpoints in a rat model of NGLY1 Deficiency

Long-term follow-up on HIV infected and non-infected women with cervical cancer from Tanzania: staging, access to cancer-directed therapies and associated survival in a real-life remote setting

The effectiveness of recycling policy options: Waste diversion or just diversions?

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