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Evidence-based path to newborn screening for duchenne muscular dystrophy

Annals of neurology, 2012-03, Vol.71 (3), p.304-313

2012

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Nicotinic alpha 7 receptor expression and modulation of the lung epithelial response to lipopolysaccharide

PloS one, 2017-04, Vol.12 (4), p.e0175367

2017

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LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy

Annals of neurology, 2013-04, Vol.73 (4), p.481-488

2013

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A novel human-infection-derived bacterium provides insights into the evolutionary origins of mutualistic insect-bacterial symbioses

PLoS genetics, 2012-11, Vol.8 (11), p.e1002990-e1002990

2012

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Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy

Human mutation, 2022-04, Vol.43 (4), p.511-528

2022

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Lung epithelial response to cigarette smoke and modulation by the nicotinic alpha 7 receptor

PloS one, 2017-11, Vol.12 (11), p.e0187773-e0187773

2017

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Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy

PloS one, 2017-12, Vol.12 (12), p.e0189664-e0189664

2017

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A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction

PLoS genetics, 2008-07, Vol.4 (7), p.e1000125-e1000125

2008

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Accelerated evolution of mitochondrial but not nuclear genomes of Hymenoptera: new evidence from crabronid wasps

PloS one, 2012-03, Vol.7 (3), p.e32826-e32826

2012

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Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45

Annals of neurology, 2015-04, Vol.77 (4), p.668-674

2015

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Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

Human mutation, 2011-03, Vol.32 (3), p.299-308

2011

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EGO, a novel, noncoding RNA gene, regulates eosinophil granule protein transcript expression

Blood, 2007-06, Vol.109 (12), p.5191-5198

2007

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Long‐range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy

Annals of neurology, 2018-08, Vol.84 (2), p.234-245

2018

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High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis

Molecular genetics & genomic medicine, 2021-04, Vol.9 (4), p.e1619-n/a

2021

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Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing

Genome research, 2023-09, Vol.33 (9), p.1439

2023

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A Strong Signature of Balancing Selection in the 5′ cis-Regulatory Region of CCR5

Proceedings of the National Academy of Sciences - PNAS, 2002-08, Vol.99 (16), p.10539-10544

2002

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Absence of Significant Off-Target Splicing Variation with a U7snRNA Vector Targeting DMD Exon 2 Duplications

Human gene therapy, 2021-11, Vol.32 (21-22), p.1346

2021

Volltextzugriff (PDF)

Core transcriptional networks in Williams syndrome: IGF1-PI3K-AKT-mTOR, MAPK and actin signaling at the synapse echo autism

Human molecular genetics, 2021-04, Vol.30 (6), p.411-429

2021

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Incipient genome erosion and metabolic streamlining for antibiotic production in a defensive symbiont

Proceedings of the National Academy of Sciences - PNAS, 2021-04, Vol.118 (17), p.1

2021

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The interferon-inducible p47 (IRG) GTPases in vertebrates: loss of the cell autonomous resistance mechanism in the human lineage

Genome biology, 2005-01, Vol.6 (11), p.R92-R92

2005

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A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity

European journal of human genetics : EJHG, 2023-06, Vol.31 (6), p.663-673

2023

Volltextzugriff (PDF)

Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy

Brain (London, England : 1878), 2024-02, Vol.147 (2), p.414-426

2024

Volltextzugriff (PDF)

Position of Glycine Substitutions in the Triple Helix of COL6A1, COL6A2, and COL6A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies

Human mutation, 2013-11, Vol.34 (11), p.1558-1567

2013

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Complex signatures of natural selection at GYPA

Human genetics, 2018-02, Vol.137 (2), p.151-160

2018

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Evidence-based path to newborn screening for duchenne muscular dystrophy

Nicotinic alpha 7 receptor expression and modulation of the lung epithelial response to lipopolysaccharide

LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy

A novel human-infection-derived bacterium provides insights into the evolutionary origins of mutualistic insect-bacterial symbioses

Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy

Lung epithelial response to cigarette smoke and modulation by the nicotinic alpha 7 receptor

Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy

A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction

Accelerated evolution of mitochondrial but not nuclear genomes of Hymenoptera: new evidence from crabronid wasps

Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

EGO, a novel, noncoding RNA gene, regulates eosinophil granule protein transcript expression

Long‐range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy

High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis

Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing

A Strong Signature of Balancing Selection in the 5′ cis-Regulatory Region of CCR5

Absence of Significant Off-Target Splicing Variation with a U7snRNA Vector Targeting DMD Exon 2 Duplications

Core transcriptional networks in Williams syndrome: IGF1-PI3K-AKT-mTOR, MAPK and actin signaling at the synapse echo autism

Incipient genome erosion and metabolic streamlining for antibiotic production in a defensive symbiont

The interferon-inducible p47 (IRG) GTPases in vertebrates: loss of the cell autonomous resistance mechanism in the human lineage

A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity

Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

Position of Glycine Substitutions in the Triple Helix of COL6A1, COL6A2, and COL6A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies

Complex signatures of natural selection at GYPA

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