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An overview of polymyositis and dermatomyositis

Muscle & nerve, 2015-05, Vol.51 (5), p.638-656

2015

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Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy

The Journal of clinical investigation, 2020-08, Vol.130 (8), p.4470-4485

2020

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Phenotypic diversity in an international Cure VCP Disease registry

Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.267-267, Article 267

2020

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Genetic-Based Treatment Strategies for Muscular Dystrophy and Congenital Myopathies

Continuum (Minneapolis, Minn.), 2022-12, Vol.28 (6), p.1800-1816

2022

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Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

Acta neuropathologica, 2023-01, Vol.145 (1), p.127-143

2023

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Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy

Neuromuscular disorders : NMD, 2018-08, Vol.28 (8), p.675-679

2018

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LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials

Annals of clinical and translational neurology, 2023-02, Vol.10 (2), p.181-194

2023

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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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DNAJB6 isoform specific knockdown: Therapeutic potential for limb girdle muscular dystrophy D1

Molecular therapy. Nucleic acids, 2023-06, Vol.32, p.937-948

2023

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Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1

Neurology. Genetics, 2024-10, Vol.10 (5), p.e200191

2024

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Clinical utility of anti‐cytosolic 5’‐nucleotidase 1A antibody in idiopathic inflammatory myopathies

Annals of clinical and translational neurology, 2021-03, Vol.8 (3), p.571-578

2021

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The first exon duplication mouse model of Duchenne muscular dystrophy: A tool for therapeutic development

Neuromuscular disorders : NMD, 2015-11, Vol.25 (11), p.827-834

2015

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The ZZ Domain of Dystrophin in DMD: Making Sense of Missense Mutations

Human mutation, 2014-02, Vol.35 (2), p.257-264

2014

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Recent Advancement in Charge and Photo-Assisted Non-Contact Electrical Characterization of SiC, GaN, and AlGaN/GaN HEMT

ECS transactions, 2017, Vol.80 (7), p.261-274

2017

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Increased Peritoneal Dialysis Exit Site Infections Using Topical Antiseptic Polyhexamethylene Biguanide Compared to Mupirocin: Results of a Safety Interim Analysis of an Open-Label Prospective Randomized Study

Antimicrobial Agents and Chemotherapy, 2013-05, Vol.57 (5), p.2026-2028

2013

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Camptocormia as a late presentation in a manifesting carrier of duchenne muscular dystrophy

Muscle & nerve, 2013-01, Vol.47 (1), p.124-127

2013

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Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy

Neuromuscular disorders : NMD, 2014-05, Vol.24 (5), p.431-435

2014

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234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8–10 December 2017

Neuromuscular disorders : NMD, 2018-12, Vol.28 (12), p.1022-1030

2018

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Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D

Neurology. Genetics, 2019-04, Vol.5 (2), p.e318-e318

2019

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(Invited) Non-Visual Defect Monitoring with Surface Photovoltage Mapping

ECS transactions, 2016, Vol.75 (4), p.13-27

2016

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MO479: CKD Coding Across Hertfordshire and West Essex. Are We Missing the Chance for Early Intervention?

Nephrology, dialysis, transplantation, 2022-05, Vol.37 (Supplement_3)

2022

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Efficient Skipping of Single Exon Duplications in DMD Patient-Derived Cell Lines Using an Antisense Oligonucleotide Approach

Journal of neuromuscular diseases, 2017, Vol.4 (3), p.199-207

2017

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Natural History and Phenotypic Spectrum of LGMD-D1: Implications for Clinical Trials (P1-1.Virtual)

Neurology, 2022-05, Vol.98 (18_supplement)

2022

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Modelling Polymer Particle Deformation on Mineral Surfaces - Part I: Validation of Initial Concepts

Macromolecular symposia, 2008-09, Vol.271 (1), p.75-82

2008

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Clinical Practice Guideline on management of older patients with chronic kidney disease stage 3b or higher (eGFR<45 mL/min/1.73 m2): a summary document from the European Renal Best Practice Group

Nephrology, dialysis, transplantation, 2017-01, Vol.32 (1), p.9-16

2017

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An overview of polymyositis and dermatomyositis

Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy

Phenotypic diversity in an international Cure VCP Disease registry

Genetic-Based Treatment Strategies for Muscular Dystrophy and Congenital Myopathies

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy

LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials

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

DNAJB6 isoform specific knockdown: Therapeutic potential for limb girdle muscular dystrophy D1

Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1

Clinical utility of anti‐cytosolic 5’‐nucleotidase 1A antibody in idiopathic inflammatory myopathies

The first exon duplication mouse model of Duchenne muscular dystrophy: A tool for therapeutic development

The ZZ Domain of Dystrophin in DMD: Making Sense of Missense Mutations

Recent Advancement in Charge and Photo-Assisted Non-Contact Electrical Characterization of SiC, GaN, and AlGaN/GaN HEMT

Increased Peritoneal Dialysis Exit Site Infections Using Topical Antiseptic Polyhexamethylene Biguanide Compared to Mupirocin: Results of a Safety Interim Analysis of an Open-Label Prospective Randomized Study

Camptocormia as a late presentation in a manifesting carrier of duchenne muscular dystrophy

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy

234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8–10 December 2017

Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D

(Invited) Non-Visual Defect Monitoring with Surface Photovoltage Mapping

MO479: CKD Coding Across Hertfordshire and West Essex. Are We Missing the Chance for Early Intervention?

Efficient Skipping of Single Exon Duplications in DMD Patient-Derived Cell Lines Using an Antisense Oligonucleotide Approach

Natural History and Phenotypic Spectrum of LGMD-D1: Implications for Clinical Trials (P1-1.Virtual)

Modelling Polymer Particle Deformation on Mineral Surfaces - Part I: Validation of Initial Concepts

Clinical Practice Guideline on management of older patients with chronic kidney disease stage 3b or higher (eGFR<45 mL/min/1.73 m2): a summary document from the European Renal Best Practice Group

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