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Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization

JCI insight, 2023-09, Vol.8 (17)

2023

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Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice

Neurobiology of disease, 2008-07, Vol.31 (1), p.127-132

2008

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Zebrafish macrophage developmental arrest underlies depletion of microglia and reveals Csf1r-independent metaphocytes

eLife, 2020-05, Vol.9

2020

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Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

American journal of human genetics, 2019-05, Vol.104 (5), p.936-947

2019

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IDH1-mutated transgenic zebrafish lines: An in-vivo model for drug screening and functional analysis

PloS one, 2018-06, Vol.13 (6), p.e0199737-e0199737

2018

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Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development

Glia, 2019-09, Vol.67 (9), p.1705-1718

2019

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Identification of a conserved and acute neurodegeneration‐specific microglial transcriptome in the zebrafish

Glia, 2017-01, Vol.65 (1), p.138-149

2017

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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Acta neuropathologica, 2020-03, Vol.139 (3), p.415-442

2020

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Reverse genetic screen reveals that Il34 facilitates yolk sac macrophage distribution and seeding of the brain

Disease models & mechanisms, 2019-03, Vol.12 (3)

2019

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Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance

Genome medicine, 2021-10, Vol.13 (1), p.162-162, Article 162

2021

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Reduction of oxidative stress suppresses poly-GR-mediated toxicity in zebrafish embryos

Disease models & mechanisms, 2021-11, Vol.14 (11)

2021

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AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome

Neurobiology of disease, 2011-06, Vol.42 (3), p.311-317

2011

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Disruption of a Long-Range Cis-Acting Regulator for Shh Causes Preaxial Polydactyly

Proceedings of the National Academy of Sciences - PNAS, 2002-05, Vol.99 (11), p.7548-7553

2002

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Colony-Stimulating Factor 1 Receptor (CSF1R) Regulates Microglia Density and Distribution, but Not Microglia Differentiation In Vivo

Cell reports (Cambridge), 2018-07, Vol.24 (5), p.1203-1217.e6

2018

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The zebrafish homologue of Parkinson's disease ATP13A2 is essential for embryonic survival

Brain research bulletin, 2013-01, Vol.90, p.118-126

2013

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Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy

Acta neuropathologica, 2022-08, Vol.144 (2), p.211-239

2022

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Identification of antiparkinsonian drugs in the 6-hydroxydopamine zebrafish model

Pharmacology, biochemistry and behavior, 2020-02, Vol.189, p.172828-172828, Article 172828

2020

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The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction

Human molecular genetics, 2023-01, Vol.32 (1), p.151-160

2023

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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Acta neuropathologica, 2023-08, Vol.146 (2), p.353-368

2023

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Retraction Note to: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD

Acta neuropathologica communications, 2016-12, Vol.4 (1), p.129-129, Article 129

2016

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Reduction in fragile X related 1 protein causes cardiomyopathy and muscular dystrophy in zebrafish

Journal of experimental biology, 2009-08, Vol.212 (Pt 16), p.2564-2570

2009

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Biallelic Variants in ASNA1 , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

Circulation. Genomic and precision medicine, 2019-09, Vol.12 (9), p.397-406

2019

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A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD

Acta neuropathologica communications, 2014-12, Vol.2 (1), p.166-166

2014

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A Double RING-H2 Domain in RNF32, a Gene Expressed during Sperm Formation

Biochemical and biophysical research communications, 2002-03, Vol.292 (1), p.58-65

2002

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Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization

Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice

Zebrafish macrophage developmental arrest underlies depletion of microglia and reveals Csf1r-independent metaphocytes

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

IDH1-mutated transgenic zebrafish lines: An in-vivo model for drug screening and functional analysis

Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development

Identification of a conserved and acute neurodegeneration‐specific microglial transcriptome in the zebrafish

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Reverse genetic screen reveals that Il34 facilitates yolk sac macrophage distribution and seeding of the brain

Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance

Reduction of oxidative stress suppresses poly-GR-mediated toxicity in zebrafish embryos

AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome

Disruption of a Long-Range Cis-Acting Regulator for Shh Causes Preaxial Polydactyly

Colony-Stimulating Factor 1 Receptor (CSF1R) Regulates Microglia Density and Distribution, but Not Microglia Differentiation In Vivo

The zebrafish homologue of Parkinson's disease ATP13A2 is essential for embryonic survival

Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy

Identification of antiparkinsonian drugs in the 6-hydroxydopamine zebrafish model

The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Retraction Note to: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD

Reduction in fragile X related 1 protein causes cardiomyopathy and muscular dystrophy in zebrafish

Biallelic Variants in ASNA1 , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD

A Double RING-H2 Domain in RNF32, a Gene Expressed during Sperm Formation

Novel parkin mutations detected in patients with early-onset Parkinson's disease

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