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The Pathogenesis and Therapy of Muscular Dystrophies

Annual review of genomics and human genetics, 2015-08, Vol.16 (1), p.281-308

2015

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Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

Human mutation, 2009-03, Vol.30 (3), p.293-299

2009

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Human papillomavirus (HPV) upregulates the cellular deubiquitinase UCHL1 to suppress the keratinocyte's innate immune response

PLoS pathogens, 2013-05, Vol.9 (5), p.e1003384-e1003384

2013

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Human papillomavirus deregulates the response of a cellular network comprising of chemotactic and proinflammatory genes

PloS one, 2011-03, Vol.6 (3), p.e17848

2011

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Systemic Administration of PRO051 in Duchenne's Muscular Dystrophy

The New England journal of medicine, 2011-04, Vol.364 (16), p.1513-1522

2011

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Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule

Muscle & nerve, 2006-08, Vol.34 (2), p.135-144

2006

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Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms

Nucleic acids research, 2008-12, Vol.36 (21), p.e141-e141

2008

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Targeting several CAG expansion diseases by a single antisense oligonucleotide

PloS one, 2011-09, Vol.6 (9), p.e24308

2011

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Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

American journal of human genetics, 2008-03, Vol.82 (3), p.763-771

2008

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In vivo comparison of 2′-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping

The journal of gene medicine, 2009-03, Vol.11 (3), p.257-266

2009

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Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

American journal of human genetics, 2005-04, Vol.76 (4), p.572-580

2005

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Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: Removal of the CAG containing exon

Neurobiology of disease, 2013-10, Vol.58, p.49-56

2013

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An immune response network associated with blood lipid levels

PLoS genetics, 2010-09, Vol.6 (9), p.e1001113-e1001113

2010

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Preclinical PK and PD Studies on 2′-O-Methyl-phosphorothioate RNA Antisense Oligonucleotides in the mdx Mouse Model

Molecular therapy, 2010-06, Vol.18 (6), p.1210-1217

2010

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Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates

PloS one, 2017-06, Vol.12 (6), p.e0178556-e0178556

2017

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Integrated analysis of DNA copy number and gene expression microarray data using gene sets

BMC bioinformatics, 2009-06, Vol.10 (1), p.203-203, Article 203

2009

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Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications

RNA (Cambridge), 2007-10, Vol.13 (10), p.1609-1624

2007

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Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Science (American Association for the Advancement of Science), 2010-09, Vol.329 (5999), p.1650-1653

2010

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Antisense-Induced Multiexon Skipping for Duchenne Muscular Dystrophy Makes More Sense

American journal of human genetics, 2004-01, Vol.74 (1), p.83-92

2004

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Comparison of skeletal muscle pathology and motor function of dystrophin and utrophin deficient mouse strains

Neuromuscular disorders : NMD, 2012-05, Vol.22 (5), p.406-417

2012

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Local Dystrophin Restoration with Antisense Oligonucleotide PRO051

The New England journal of medicine, 2007-12, Vol.357 (26), p.2677-2686

2007

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Enhanced Exon-skipping Induced by U7 snRNA Carrying a Splicing Silencer Sequence: Promising Tool for DMD Therapy

Molecular therapy, 2009-07, Vol.17 (7), p.1234-1240

2009

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Deep sequencing to reveal new variants in pooled DNA samples

Human mutation, 2009-12, Vol.30 (12), p.1703-1712

2009

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Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin/utrophin double‐knockout mice

The FASEB journal, 2013-06, Vol.27 (6), p.2484-2495

2013

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Assessment of the feasibility of exon 45-55 multiexon skipping for Duchenne muscular dystrophy

BMC medical genetics, 2008-12, Vol.9 (1), p.105-105, Article 105

2008

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The Pathogenesis and Therapy of Muscular Dystrophies

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

Human papillomavirus (HPV) upregulates the cellular deubiquitinase UCHL1 to suppress the keratinocyte's innate immune response

Human papillomavirus deregulates the response of a cellular network comprising of chemotactic and proinflammatory genes

Systemic Administration of PRO051 in Duchenne's Muscular Dystrophy

Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule

Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms

Targeting several CAG expansion diseases by a single antisense oligonucleotide

Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

In vivo comparison of 2′-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: Removal of the CAG containing exon

An immune response network associated with blood lipid levels

Preclinical PK and PD Studies on 2′-O-Methyl-phosphorothioate RNA Antisense Oligonucleotides in the mdx Mouse Model

Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates

Integrated analysis of DNA copy number and gene expression microarray data using gene sets

Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications

Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Antisense-Induced Multiexon Skipping for Duchenne Muscular Dystrophy Makes More Sense

Comparison of skeletal muscle pathology and motor function of dystrophin and utrophin deficient mouse strains

Local Dystrophin Restoration with Antisense Oligonucleotide PRO051

Enhanced Exon-skipping Induced by U7 snRNA Carrying a Splicing Silencer Sequence: Promising Tool for DMD Therapy

Deep sequencing to reveal new variants in pooled DNA samples

Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin/utrophin double‐knockout mice

Assessment of the feasibility of exon 45-55 multiexon skipping for Duchenne muscular dystrophy

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