Paper a day Archives • World Duchenne

Showing all 30 results

#apaperaday: An Open Label Exploratory Clinical Trial Evaluating Safety and Tolerability of Once-Weekly Prednisone in Becker and Limb-Girdle Muscular Dystrophy

An Open Label Exploratory Clinical Trial Evaluating Safety and Tolerability of Once-Weekly Prednisone in Becker and Limb-Girdle Muscular Dystrophy

#apaperaday: Interplay of disability, caregiver impact, and out-of-pocket expenditures in Duchenne muscular dystrophy: a cohort study.

Interplay of disability, caregiver impact, and out-of-pocket expenditures in Duchenne muscular dystrophy: a cohort study.

#apaperaday: Generation of a Dystrophin Mutant in Dog by Nuclear Transfer Using CRISPR/Cas9-Mediated Somatic Cells: A Preliminary Study

Generation of a Dystrophin Mutant in Dog by Nuclear Transfer Using CRISPR/Cas9-Mediated Somatic Cells: A Preliminary Study

#apaperaday: Growth pattern trajectories in boys with Duchenne muscular dystrophy

Growth pattern trajectories in boys with Duchenne muscular dystrophy

#apaperaday: Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial.

Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial.

#apaperaday: Transiently expressed CRISPR/Cas9 induces wild-type dystrophin in vitro in DMD patient myoblasts carrying duplications.

Transiently expressed CRISPR/Cas9 induces wild-type dystrophin in vitro in DMD patient myoblasts carrying duplications.

#apaperaday: Co-Administration of Simvastatin Does Not Potentiate the Benefit of Gene Therapy in the mdx Mouse Model for Duchenne Muscular Dystrophy.

Co-Administration of Simvastatin Does Not Potentiate the Benefit of Gene Therapy in the mdx Mouse Model for Duchenne Muscular Dystrophy.

#apaperaday: BMI-z scores of boys with Duchenne muscular dystrophy already begin to increase before losing ambulation: a longitudinal exploration of BMI, corticosteroids and caloric intake.

BMI-z scores of boys with Duchenne muscular dystrophy already begin to increase before losing ambulation: a longitudinal exploration of BMI, corticosteroids and caloric intake.

#apaperaday: Muscle mitochondrial remodeling by intermittent glucocorticoid drugs requires an intact circadian clock and muscle PGC1α

Muscle mitochondrial remodeling by intermittent glucocorticoid drugs requires an intact circadian clock and muscle PGC1α.

#apaperaday: Development of DG9 peptide-conjugated single- and multi-exon skipping therapies for the treatment of Duchenne muscular dystrophy

Development of DG9 peptide-conjugated single- and multi-exon skipping therapies for the treatment of Duchenne muscular dystrophy

#apaperaday: Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal Hotspot

Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal Hotspot

#apaperaday: Blockade of IGF2R improves muscle regeneration and ameliorates Duchenne muscular dystrophy

Blockade of IGF2R improves muscle regeneration and ameliorates Duchenne muscular dystrophy.

#apaperaday: Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis

Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis.

#apaperaday: Lipocalin 2 Influences Bone and Muscle Phenotype in the MDX Mouse Model of Duchenne Muscular Dystrophy

Paper on lipocalin 2 involvement in muscle and bone quality in the mdx mouse by Ponzetti et al in Int Journal of Mol Science.

#apaperaday: Adeno-Associated Virus (AAV)-Mediated Gene Therapy for Duchenne Muscular Dystrophy: The Issue of Transgene Persistence

Today’s paper a day pick is on AAV gene therapy persistence for DMD published by Manini et al in Frontiers in Neurology.

Evaluation of effects of continued corticosteroid treatment on cardiac and pulmonary function in non-ambulatory males with Duchenne muscular dystrophy from MD STARnet

#apaperaday: Evaluation of effects of continued corticosteroid treatment on cardiac and pulmonary function

Paper a day by Butterfield et al on the effects of long term steroid use on heart and respiratory function.

#apaperaday: Paeonia lactiflora extract improves the muscle function of mdx mice

Today’s paper is about the anti-inflammatory properties of paeonia lactiflora in the mdx mouse model.

#apaperaday: Social stress is lethal in the mdx model of Duchenne muscular dystrophy

Social stress is lethal in the mdx model of Duchenne muscular dystrophy.

#apaperaday: Structural and Ultrastructural Changes in the Tongue of mdx Mice

Structural and Ultrastructural Changes in the Tongue of mdx Mice.

#apaperaday: Human iPSC model reveals a central role for NOX4 and oxidative stress in Duchenne cardiomyopathy

Human iPSC model reveals a central role for NOX4 and oxidative stress in Duchenne cardiomyopathy.

Evaluation of the dystrophin carboxy-terminal domain for micro-dystrophin gene therapy in cardiac and skeletal muscles in the DMD mdx rat model

#apaperaday: Evaluation of the dystrophin carboxy-terminal domain for micro-dystrophin gene therapy in cardiac and skeletal muscles in the DMD mdx rat model

Paper on the evaluation of the additional benefit of adding the C-terminal part of dystrophin to micro-dystrophin in the DMD rat model.

#apaperaday: The Added Value of Patient Engagement in Early Dialogue at EMA: Scientific Advice as a Case Study

An assessment of the added value of patient engagement during the scientific advice procedure published in Frontiers In Medicine.

Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial.

#apaperaday: Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy

Paper from JAMA Network Open by Mah et al on 30 months open extension data with vamorolone in Duchenne patients.

Psychosocial adjustment in adults with Duchenne muscular dystrophy: A pilot study on a shortened parent-report questionnaire.

#apaperaday: Psychosocial adjustment in adults with Duchenne muscular dystrophy

Today’s pick is from Weerkamp et al on a pilot study with a psychosocial adjustment scale in adults with Duchenne.

Control of backbone chemistry and chirality boost oligonucleotide splice switching activity 1

#apaperaday Control of backbone chemistry and chirality boost oligonucleotide splice switching activity

Paper by Kandasamy McClorey et al on stereopure antisense oligonucleotides (ASO) for Duchenne exon skipping.

#apaperaday: Repurposing of Medicines in the EU: Launch of a Pilot Framework

A paper by Asker-Hagelberg et al from Frontiers In Medicine on the launch of the pilot framework for a medicine repurposing project.

Can symptomatic nmDuchenne carriers benefit from treatment with ataluren? Results of 193-month follow-up & Early treatment with Ataluren of a 2-year-old boy with nonsense mutation Duchenne dystrophy

#apaperaday: Can symptomatic nmDuchenne carriers benefit from treatment with ataluren? Results of 193-month follow-up & Early treatment with Ataluren of a 2-year-old boy with nonsense mutation Duchenne dystrophy

Both case studies on ataluren. One on ataluren treatment for symptomatic carriers and one on ataluren treatment of a very young male patient.

#apaperaday: Diversity of Dystrophin Gene Mutations and Disease Progression in a Contemporary Cohort of Duchenne Muscular Dystrophy

Paper on Duchenne mutations and their relationship to disease progression today. As expected there is a focus on heart pathology.

Morbidity, Clinical Course and Vaccination against SARS-CoV-2 Virus in Patients with Duchenne Muscular Dystrophy: A Patient Reported Survey

#apaperaday: Morbidity, Clinical Course and Vaccination against SARS-CoV-2 Virus in Patients with Duchenne Muscular Dystrophy: A Patient Reported Survey

Today’s pick is from the international journal of environmental research and public health by Wasilewska et al on different aspects of COVID-19 in Duchenne patients in Poland. DOI 10.3390/ijerph19010406

#apaperaday: Human dystrophin expressing chimeric (DEC) cell therapy ameliorates cardiac, respiratory, and skeletal muscle's function in Duchenne muscular dystrophy

Siemionow et al in Stem Cells Translational Medicine on stem cell transplantation of chimeric human myoblasts IN a MOUSE model.

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#apaperaday: An Open Label Exploratory Clinical Trial Evaluating Safety and Tolerability of Once-Weekly Prednisone in Becker and Limb-Girdle Muscular Dystrophy

#apaperaday: Interplay of disability, caregiver impact, and out-of-pocket expenditures in Duchenne muscular dystrophy: a cohort study.

#apaperaday: Generation of a Dystrophin Mutant in Dog by Nuclear Transfer Using CRISPR/Cas9-Mediated Somatic Cells: A Preliminary Study

#apaperaday: Growth pattern trajectories in boys with Duchenne muscular dystrophy

#apaperaday: Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial.

#apaperaday: Transiently expressed CRISPR/Cas9 induces wild-type dystrophin in vitro in DMD patient myoblasts carrying duplications.

#apaperaday: Co-Administration of Simvastatin Does Not Potentiate the Benefit of Gene Therapy in the mdx Mouse Model for Duchenne Muscular Dystrophy.

#apaperaday: BMI-z scores of boys with Duchenne muscular dystrophy already begin to increase before losing ambulation: a longitudinal exploration of BMI, corticosteroids and caloric intake.

#apaperaday: Muscle mitochondrial remodeling by intermittent glucocorticoid drugs requires an intact circadian clock and muscle PGC1α

#apaperaday: Development of DG9 peptide-conjugated single- and multi-exon skipping therapies for the treatment of Duchenne muscular dystrophy

#apaperaday: Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal Hotspot

#apaperaday: Blockade of IGF2R improves muscle regeneration and ameliorates Duchenne muscular dystrophy

#apaperaday: Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis

#apaperaday: Lipocalin 2 Influences Bone and Muscle Phenotype in the MDX Mouse Model of Duchenne Muscular Dystrophy

#apaperaday: Adeno-Associated Virus (AAV)-Mediated Gene Therapy for Duchenne Muscular Dystrophy: The Issue of Transgene Persistence

#apaperaday: Evaluation of effects of continued corticosteroid treatment on cardiac and pulmonary function

#apaperaday: Paeonia lactiflora extract improves the muscle function of mdx mice

#apaperaday: Social stress is lethal in the mdx model of Duchenne muscular dystrophy

#apaperaday: Structural and Ultrastructural Changes in the Tongue of mdx Mice

#apaperaday: Human iPSC model reveals a central role for NOX4 and oxidative stress in Duchenne cardiomyopathy

#apaperaday: Evaluation of the dystrophin carboxy-terminal domain for micro-dystrophin gene therapy in cardiac and skeletal muscles in the DMD mdx rat model

#apaperaday: The Added Value of Patient Engagement in Early Dialogue at EMA: Scientific Advice as a Case Study

#apaperaday: Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy

#apaperaday: Psychosocial adjustment in adults with Duchenne muscular dystrophy

#apaperaday Control of backbone chemistry and chirality boost oligonucleotide splice switching activity

#apaperaday: Repurposing of Medicines in the EU: Launch of a Pilot Framework

#apaperaday: Can symptomatic nmDuchenne carriers benefit from treatment with ataluren? Results of 193-month follow-up & Early treatment with Ataluren of a 2-year-old boy with nonsense mutation Duchenne dystrophy

#apaperaday: Diversity of Dystrophin Gene Mutations and Disease Progression in a Contemporary Cohort of Duchenne Muscular Dystrophy

#apaperaday: Morbidity, Clinical Course and Vaccination against SARS-CoV-2 Virus in Patients with Duchenne Muscular Dystrophy: A Patient Reported Survey

#apaperaday: Human dystrophin expressing chimeric (DEC) cell therapy ameliorates cardiac, respiratory, and skeletal muscle's function in Duchenne muscular dystrophy

Road to independence: Documentary about young people with NMD

Webinar Recording: Understanding the role of dystrophin in the brain in DMD/BMD

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