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Hamster organotypic modeling of SARS-CoV-2 lung and brainstem infection

Nature communications, 2021-10, Vol.12 (1), p.5809-17, Article 5809

2021

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Reproduction Function in Male Patients With Bardet Biedl Syndrome

The journal of clinical endocrinology and metabolism, 2020-12, Vol.105 (12), p.1-e4429

2020

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Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice

Nature communications, 2017-06, Vol.8 (1), p.15661-15661, Article 15661

2017

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ISCA1 is essential for mitochondrial Fe4S4 biogenesis in vivo

Nature communications, 2017-05, Vol.8 (1), p.15124-15124, Article 15124

2017

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High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models

Molecular therapy. Methods & clinical development, 2020-12, Vol.19, p.120-138

2020

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Trafficking of Endogenous Immunoglobulins by Endothelial Cells at the Blood-Brain Barrier

Scientific reports, 2016-05, Vol.6 (1), p.25658-25658, Article 25658

2016

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Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice

Molecular therapy, 2018-04, Vol.26 (4), p.1082-1092

2018

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Biodistribution of X‑Ray Iodinated Contrast Agent in Nano-Emulsions Is Controlled by the Chemical Nature of the Oily Core

ACS nano, 2014-10, Vol.8 (10), p.10537-10550

2014

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Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy

Nature communications, 2022-11, Vol.13 (1), p.6849-6849, Article 6849

2022

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Androgen receptor coordinates muscle metabolic and contractile functions

Journal of cachexia, sarcopenia and muscle, 2023-08, Vol.14 (4), p.1707-1720

2023

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Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

Nature genetics, 2006-01, Vol.38 (1), p.112-117

2006

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T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

Proceedings of the National Academy of Sciences - PNAS, 2009-11, Vol.106 (44), p.18763-18768

2009

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Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin‐proteasome pathways

The FASEB journal, 2013-08, Vol.27 (8), p.3384-3394

2013

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Liver receptor homolog 1 is essential for ovulation

Genes & development, 2008-07, Vol.22 (14), p.1871-1876

2008

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Myocytic androgen receptor controls the strength but not the mass of limb muscles

Proceedings of the National Academy of Sciences - PNAS, 2010-08, Vol.107 (32), p.14327-14332

2010

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Cardiac forces regulate zebrafish heart valve delamination by modulating Nfat signaling

PLoS biology, 2022-01, Vol.20 (1), p.e3001505-e3001505

2022

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Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

Proceedings of the National Academy of Sciences - PNAS, 2009-02, Vol.106 (6), p.1820-1825

2009

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Lsd1 Ablation Triggers Metabolic Reprogramming of Brown Adipose Tissue

Cell reports (Cambridge), 2016-10, Vol.17 (4), p.1008-1021

2016

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Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration

Human molecular genetics, 2015-12, Vol.24 (23), p.6736-6755

2015

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BBS-Induced Ciliary Defect Enhances Adipogenesis, Causing Paradoxical Higher-Insulin Sensitivity, Glucose Usage, and Decreased Inflammatory Response

Cell metabolism, 2012-09, Vol.16 (3), p.363-377

2012

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A novel function of Huntingtin in the cilium and retinal ciliopathy in Huntington's disease mice

Neurobiology of disease, 2015-08, Vol.80, p.15-28

2015

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Polyglutamine-expanded ATXN7 alters a specific epigenetic signature underlying photoreceptor identity gene expression in SCA7 mouse retinopathy

Journal of biomedical science, 2022-12, Vol.29 (1), p.107-107, Article 107

2022

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Peroxisome proliferator-activated receptor gamma is required in mature white and brown adipocytes for their survival in the mouse

Proceedings of the National Academy of Sciences - PNAS, 2004-03, Vol.101 (13), p.4543-4547

2004

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Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia

Disease models & mechanisms, 2013-05, Vol.6 (3), p.608-621

2013

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Hamster organotypic modeling of SARS-CoV-2 lung and brainstem infection

Reproduction Function in Male Patients With Bardet Biedl Syndrome

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice

FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis

ISCA1 is essential for mitochondrial Fe4S4 biogenesis in vivo

High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models

Trafficking of Endogenous Immunoglobulins by Endothelial Cells at the Blood-Brain Barrier

Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice

Biodistribution of X‑Ray Iodinated Contrast Agent in Nano-Emulsions Is Controlled by the Chemical Nature of the Oily Core

Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy

Androgen receptor coordinates muscle metabolic and contractile functions

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin‐proteasome pathways

Liver receptor homolog 1 is essential for ovulation

Myocytic androgen receptor controls the strength but not the mass of limb muscles

Cardiac forces regulate zebrafish heart valve delamination by modulating Nfat signaling

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

Lsd1 Ablation Triggers Metabolic Reprogramming of Brown Adipose Tissue

Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration

BBS-Induced Ciliary Defect Enhances Adipogenesis, Causing Paradoxical Higher-Insulin Sensitivity, Glucose Usage, and Decreased Inflammatory Response

A novel function of Huntingtin in the cilium and retinal ciliopathy in Huntington's disease mice

Polyglutamine-expanded ATXN7 alters a specific epigenetic signature underlying photoreceptor identity gene expression in SCA7 mouse retinopathy

Peroxisome proliferator-activated receptor gamma is required in mature white and brown adipocytes for their survival in the mouse

Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia

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