A paper a day Archives • World Duchenne

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#apaperaday: Variants in the Sequence of the Probe Hybridization Site May Affect MLPA Performance in Patients with Duchenne/Becker Muscular Dystrophy

Variants in the Sequence of the Probe Hybridization Site May Affect MLPA Performance in Patients with Duchenne/Becker Muscular Dystrophy

#apaperaday: Sharing "Negative" Results in Neuromuscular Research: A Positive Experience

Sharing "Negative" Results in Neuromuscular Research: A Positive Experience

#apaperaday: Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies

Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies

#apaperaday: Evaluation of rAAVrh74 gene therapy vector seroprevalence by measurement of total binding antibodies in patients with Duchenne muscular dystrophy

Evaluation of rAAVrh74 gene therapy vector seroprevalence by measurement of total binding antibodies in patients with Duchenne muscular dystrophy

#apaperaday: 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy

263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment.

#apaperaday: A manifesting female carrier of Duchenne muscular dystrophy: Importance of genetics for the dystrophinopathies

A manifesting female carrier of Duchenne muscular dystrophy: Importance of genetics for the dystrophinopathies

#apaperaday: Accuracy of Non-Invasive Prenatal Testing for Duchenne Muscular Dystrophy in Families at Risk: A Systematic Review

Accuracy of Non-Invasive Prenatal Testing for Duchenne Muscular Dystrophy in Families at Risk: A Systematic Review

#apaperaday: Time to diagnosis of Duchenne muscular dystrophy in Austria and Germany

Time to diagnosis of Duchenne muscular dystrophy in Austria and Germany

#apaperaday: Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy

#apaperaday: Mechanisms of Myofibre Death in Muscular Dystrophies: The Emergence of the Regulated Forms of Necrosis in Myology

Mechanisms of Myofibre Death in Muscular Dystrophies: The Emergence of the Regulated Forms of Necrosis in Myology

#apaperaday: Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements

Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements

#apaperaday: A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable?

A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable?

#apaperaday: What Can RNA-Based Therapy Do for Monogenic Diseases?

What Can RNA-Based Therapy Do for Monogenic Diseases?

#apaperaday: Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype

Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype

#apaperaday: Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy

Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy

#apaperaday: The discovery of the DNA methylation episignature for Duchenne muscular dystrophy

The discovery of the DNA methylation episignature for Duchenne muscular dystrophy

#apaperaday: Racial and ethnic differences in timing of diagnosis and clinical services received in Duchenne Muscular Dystrophy

Racial and ethnic differences in timing of diagnosis and clinical services received in Duchenne Muscular Dystrophy

#apaperaday: Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle

Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle

#apaperaday: Targeting gut dysbiosis against inflammation and impaired autophagy in Duchenne muscular dystrophy

Targeting gut dysbiosis against inflammation and impaired autophagy in Duchenne muscular dystrophy

#apaperaday: Biological and genetic therapies for the treatment of Duchenne muscular dystrophy

Biological and genetic therapies for the treatment of Duchenne muscular dystrophy

#apaperaday: Assessment of systemic AAV-microdystrophin gene therapy in the GRMD model of Duchenne muscular dystrophy

Assessment of systemic AAV-microdystrophin gene therapy in the GRMD model of Duchenne muscular dystrophy

#apaperaday: Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

#apaperaday: Functional and Clinical Outcomes Associated with Steroid Treatment among Non-ambulatory Patients with Duchenne Muscular Dystrophy

Functional and Clinical Outcomes Associated with Steroid Treatment among Non-ambulatory Patients with Duchenne Muscular Dystrophy

#apaperaday: Clinical potential of microdystrophin as a surrogate endpoint

Clinical potential of microdystrophin as a surrogate endpoint

#apaperaday: Brother of Cure Rare Disease CEO Dies in Trial of Duchenne Muscular Dystrophy Therapy

Brother of Cure Rare Disease CEO Dies in Trial of Duchenne Muscular Dystrophy Therapy

#apaperaday: Trabecular Bone Volume Is Reduced, With Deteriorated Microstructure, With Aging in a Rat Model of Duchenne Muscular Dystrophy

Trabecular Bone Volume Is Reduced, With Deteriorated Microstructure, With Aging in a Rat Model of Duchenne Muscular Dystrophy

#apaperaday: Bridging the Gap With Clinical Pharmacology in Innovative Rare Disease Treatment Modalities: Targeting DNA to RNA to Protein

Bridging the Gap With Clinical Pharmacology in Innovative Rare Disease Treatment Modalities: Targeting DNA to RNA to Protein

#apaperaday: Electrical Impedance Myography Correlates with Functional Measures of Disease Progression in D2-mdx Mice and Boys with Duchenne Muscular Dystrophy

Electrical Impedance Myography Correlates with Functional Measures of Disease Progression in D2-mdx Mice and Boys with Duchenne Muscular Dystrophy

#apaperaday: Pharmacological inhibition of HDAC6 improves muscle phenotypes in dystrophin-deficient mice by downregulating TGF-β via Smad3 acetylation

Pharmacological inhibition of HDAC6 improves muscle phenotypes in dystrophin-deficient mice by downregulating TGF-β via Smad3 acetylation

#apaperaday: Cardiac and Skeletal Muscle Pathology in the D2/mdx Mouse Model and Caveats Associated with the Quantification of Utrophin.

Cardiac and Skeletal Muscle Pathology in the D2/mdx Mouse Model and Caveats Associated with the Quantification of Utrophin.

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#apaperaday: Variants in the Sequence of the Probe Hybridization Site May Affect MLPA Performance in Patients with Duchenne/Becker Muscular Dystrophy

#apaperaday: Sharing "Negative" Results in Neuromuscular Research: A Positive Experience

#apaperaday: Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies

#apaperaday: Evaluation of rAAVrh74 gene therapy vector seroprevalence by measurement of total binding antibodies in patients with Duchenne muscular dystrophy

#apaperaday: 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy

#apaperaday: A manifesting female carrier of Duchenne muscular dystrophy: Importance of genetics for the dystrophinopathies

#apaperaday: Accuracy of Non-Invasive Prenatal Testing for Duchenne Muscular Dystrophy in Families at Risk: A Systematic Review

#apaperaday: Time to diagnosis of Duchenne muscular dystrophy in Austria and Germany

#apaperaday: Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy

#apaperaday: Mechanisms of Myofibre Death in Muscular Dystrophies: The Emergence of the Regulated Forms of Necrosis in Myology

#apaperaday: Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements

#apaperaday: A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable?

#apaperaday: What Can RNA-Based Therapy Do for Monogenic Diseases?

#apaperaday: Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype

#apaperaday: Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy

#apaperaday: The discovery of the DNA methylation episignature for Duchenne muscular dystrophy

#apaperaday: Racial and ethnic differences in timing of diagnosis and clinical services received in Duchenne Muscular Dystrophy

#apaperaday: Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle

#apaperaday: Targeting gut dysbiosis against inflammation and impaired autophagy in Duchenne muscular dystrophy

#apaperaday: Biological and genetic therapies for the treatment of Duchenne muscular dystrophy

#apaperaday: Assessment of systemic AAV-microdystrophin gene therapy in the GRMD model of Duchenne muscular dystrophy

#apaperaday: Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

#apaperaday: Functional and Clinical Outcomes Associated with Steroid Treatment among Non-ambulatory Patients with Duchenne Muscular Dystrophy

#apaperaday: Clinical potential of microdystrophin as a surrogate endpoint

#apaperaday: Brother of Cure Rare Disease CEO Dies in Trial of Duchenne Muscular Dystrophy Therapy

#apaperaday: Trabecular Bone Volume Is Reduced, With Deteriorated Microstructure, With Aging in a Rat Model of Duchenne Muscular Dystrophy

#apaperaday: Bridging the Gap With Clinical Pharmacology in Innovative Rare Disease Treatment Modalities: Targeting DNA to RNA to Protein

#apaperaday: Electrical Impedance Myography Correlates with Functional Measures of Disease Progression in D2-mdx Mice and Boys with Duchenne Muscular Dystrophy

#apaperaday: Pharmacological inhibition of HDAC6 improves muscle phenotypes in dystrophin-deficient mice by downregulating TGF-β via Smad3 acetylation

#apaperaday: Cardiac and Skeletal Muscle Pathology in the D2/mdx Mouse Model and Caveats Associated with the Quantification of Utrophin.

Duchenne and the Brain

ADC open to accept applications for Duchenne Centers Accreditation

Monthly #apaperaday wrap-up: February 2023