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NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Nature communications, 2020-09, Vol.11 (1), p.4625-4625, Article 4625

2020

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The interaction of genetics and environmental toxicants in amyotrophic lateral sclerosis：results from animal models

Neural regeneration research, 2017-06, Vol.12 (6), p.902-905

Sher, Roger B

2017

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Identification of quantitative trait loci for survival in the mutant dynactin p150Glued mouse model of motor neuron disease

PloS one, 2022-09, Vol.17 (9), p.e0274615-e0274615

2022

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A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

American journal of human genetics, 2011-06, Vol.88 (6), p.845-851

2011

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Genetic background effects on disease onset and lifespan of the mutant dynactin p150Glued mouse model of motor neuron disease

PloS one, 2015-03, Vol.10 (3), p.e0117848-e0117848

2015

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Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy

Human molecular genetics, 2011-10, Vol.20 (19), p.3841-3851

2011

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Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Nature communications, 2020-10, Vol.11 (1), p.5022-5022, Article 5022

2020

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NEMF mutations in mice illustrate how Importin-β specific nuclear transport defects recapitulate neurodegenerative disease hallmarks

PLoS genetics, 2024-09, Vol.20 (9), p.e1011411

2024

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Gait analysis detects early changes in transgenic SOD1(G93A) mice

Muscle & nerve, 2005-07, Vol.32 (1), p.43-50

2005

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Rhabdomyosarcomas in aging A/J mice

PloS one, 2011-08, Vol.6 (8), p.e23498-e23498

2011

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Understanding the muscular dystrophy caused by deletion of choline kinase beta in mice

Biochimica et biophysica acta, 2009-05, Vol.1791 (5), p.347-356

2009

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A Rostrocaudal Muscular Dystrophy Caused by a Defect in Choline Kinase Beta, the First Enzyme in Phosphatidylcholine Biosynthesis

The Journal of biological chemistry, 2006-02, Vol.281 (8), p.4938-4948

2006

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Hanging on for the ride: Adhesion to the extracellular matrix mediates cellular responses in skeletal muscle morphogenesis and disease

Developmental biology, 2015-05, Vol.401 (1), p.75-91

2015

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Differential expression of choline kinase isoforms in skeletal muscle explains the phenotypic variability in the rostrocaudal muscular dystrophy mouse

Biochimica et biophysica acta, 2010-04, Vol.1801 (4), p.446-454

2010

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The SATB1-MIR22-GBA axis mediates glucocerebroside accumulation inducing a cellular senescence-like phenotype in dopaminergic neurons

Aging cell, 2024-04, Vol.23 (4), p.e14077

2024

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Identification of quantitative trait loci for survival in the mutant dynactin p150Glued mouse model of motor neuron disease

PloS one, 2022-09, Vol.17 (9)

2022

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Functional rescue in a mouse model of congenital muscular dystrophy with megaconial myopathy

Human molecular genetics, 2019-08, Vol.28 (16), p.2635-2647

2019

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Choline kinase beta is required for normal endochondral bone formation

Biochimica et biophysica acta, 2014-07, Vol.1840 (7), p.2112-2122

2014

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A major QTL on mouse chromosome 17 resulting in lifespan variability in SOD1-G93A transgenic mouse models of amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2014-12, Vol.15 (7-8), p.588-600

2014

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Biological Control of the Leafminer Liriomyza trifolii (Burgess): Implications for Intraguild Predation between Diglyphus begini Ashmead and Steinernema carpocapsae (Weiser)

Biological control, 2000-02, Vol.17 (2), p.155-163

2000

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Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain

Human molecular genetics, 2005-10, Vol.14 (19), p.2801-2811

2005

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NEMF mutations in mice illustrate how Importin-[beta] specific nuclear transport defects recapitulate neurodegenerative disease hallmarks

PLoS genetics, 2024-09, Vol.20 (9), p.e1011411

2024

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Effect of genetic background on phenotype variability in transgenic mouse models of amyotrophic lateral sclerosis: A window of opportunity in the search for genetic modifiers

Amyotrophic lateral sclerosis, 2011-03, Vol.12 (2), p.79-86

2011

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Embryonic Exposure to the Environmental Neurotoxin BMAA Negatively Impacts Early Neuronal Development and Progression of Neurodegeneration in the Sod1-G93R Zebrafish Model of Amyotrophic Lateral Sclerosis

Toxicological sciences, 2017-05, p.kfx020

2017

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Genetic Background Effects on Disease Onset and Lifespan of the Mutant Dynactin p150.sup.Glued Mouse Model of Motor Neuron Disease

PloS one, 2015-03, Vol.10 (3)

2015

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NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

The interaction of genetics and environmental toxicants in amyotrophic lateral sclerosis：results from animal models

Identification of quantitative trait loci for survival in the mutant dynactin p150Glued mouse model of motor neuron disease

A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

Genetic background effects on disease onset and lifespan of the mutant dynactin p150Glued mouse model of motor neuron disease

Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

NEMF mutations in mice illustrate how Importin-β specific nuclear transport defects recapitulate neurodegenerative disease hallmarks

Gait analysis detects early changes in transgenic SOD1(G93A) mice

Rhabdomyosarcomas in aging A/J mice

Understanding the muscular dystrophy caused by deletion of choline kinase beta in mice

A Rostrocaudal Muscular Dystrophy Caused by a Defect in Choline Kinase Beta, the First Enzyme in Phosphatidylcholine Biosynthesis

Hanging on for the ride: Adhesion to the extracellular matrix mediates cellular responses in skeletal muscle morphogenesis and disease

Differential expression of choline kinase isoforms in skeletal muscle explains the phenotypic variability in the rostrocaudal muscular dystrophy mouse

The SATB1-MIR22-GBA axis mediates glucocerebroside accumulation inducing a cellular senescence-like phenotype in dopaminergic neurons

Identification of quantitative trait loci for survival in the mutant dynactin p150Glued mouse model of motor neuron disease

Functional rescue in a mouse model of congenital muscular dystrophy with megaconial myopathy

Choline kinase beta is required for normal endochondral bone formation

A major QTL on mouse chromosome 17 resulting in lifespan variability in SOD1-G93A transgenic mouse models of amyotrophic lateral sclerosis

Biological Control of the Leafminer Liriomyza trifolii (Burgess): Implications for Intraguild Predation between Diglyphus begini Ashmead and Steinernema carpocapsae (Weiser)

Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain

NEMF mutations in mice illustrate how Importin-[beta] specific nuclear transport defects recapitulate neurodegenerative disease hallmarks

Effect of genetic background on phenotype variability in transgenic mouse models of amyotrophic lateral sclerosis: A window of opportunity in the search for genetic modifiers

Embryonic Exposure to the Environmental Neurotoxin BMAA Negatively Impacts Early Neuronal Development and Progression of Neurodegeneration in the Sod1-G93R Zebrafish Model of Amyotrophic Lateral Sclerosis

Genetic Background Effects on Disease Onset and Lifespan of the Mutant Dynactin p150.sup.Glued Mouse Model of Motor Neuron Disease

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