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Personalized gene and cell therapy for Duchenne Muscular Dystrophy

Neuromuscular disorders : NMD, 2018-10, Vol.28 (10), p.803-824

2018

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Editorial: Personalized medicine for neuromuscular disorders

Frontiers in cell and developmental biology, 2023-11, Vol.11, p.1329048-1329048

2023

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Modeling Patient-Specific Muscular Dystrophy Phenotypes and Therapeutic Responses in Reprogrammed Myotubes Engineered on Micromolded Gelatin Hydrogels

Frontiers in cell and developmental biology, 2022-04, Vol.10, p.830415-830415

2022

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Elucidation of bioinformatic-guided high-prospect drug repositioning candidates for DMD via Swanson linking of target-focused latent knowledge from text-mined categorical metadata

Frontiers in cell and developmental biology, 2023-08, Vol.11, p.1226707-1226707

2023

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Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD

Frontiers in genetics, 2023-07, Vol.14, p.1216066-1216066

2023

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Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models

Molecular therapy. Nucleic acids, 2019-12, Vol.18, p.580-589

2019

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Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin

Scientific reports, 2021-01, Vol.11 (1), p.1128-1128, Article 1128

2021

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Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue

Communications biology, 2022-09, Vol.5 (1), p.989-989, Article 989

2022

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Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet

Journal of neuromuscular diseases, 2018, Vol.5 (1), p.21-28

2018

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Translational research and therapeutic perspectives in dysferlinopathies

Molecular medicine (Cambridge, Mass.), 2011-09, Vol.17 (9-10), p.875-882

2011

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Large in-frame 5′ deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature

Neuromuscular disorders : NMD, 2019-11, Vol.29 (11), p.863-873

2019

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Truncated prelamin A expression in HGPS-like patients: a transcriptional study

European journal of human genetics : EJHG, 2015-08, Vol.23 (8), p.1051-1061

2015

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Dysferlin Exon 32 Skipping in Patient Cells

Methods in molecular biology (Clifton, N.J.), 2018, Vol.1828, p.489

2018

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Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

Journal of neuromuscular diseases, 2015-09, Vol.2 (3), p.281-290

2015

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DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype

Human mutation, 2018-09, Vol.39 (9), p.1193-1202

2018

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Analysis of the usage of the Core Public Service Vocabulary Application Profile

Proceedings of the 14th International Conference on Theory and Practice of Electronic Governance, 2021, p.500-502

2021

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De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

American journal of human genetics, 2015-03, Vol.96 (3), p.498-506

2015

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Validation and Detection of Exon Skipping Boosters in DMD Patient Cell Models and mdx Mouse

Methods in molecular biology (Clifton, N.J.), 2018, Vol.1828, p.309

2018

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A well‐tolerated core needle muscle biopsy process suitable for children and adults

Muscle & nerve, 2020-12, Vol.62 (6), p.688-698

2020

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How data vocabulary standards enhance the exchange of information exposed through APIs: the case of public service descriptions

Proceedings of the 13th International Conference on Theory and Practice of Electronic Governance, 2020, p.807-810

2020

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Cover Image, Volume 39, Issue 9

Human mutation, 2018-09, Vol.39 (9), p.i-i

2018

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Therapeutic exon 'switching' for dysferlinopathies?

European journal of human genetics : EJHG, 2010-09, Vol.18 (9), p.969-970

2010

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Autonomic cardiovascular adaptations to acute head-out water immersion, head-down tilt and supine position

European journal of applied physiology, 2020-02, Vol.120 (2), p.337-347

2020

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Causal analyses to study autonomic regulation during acute head‐out water immersion, head‐down tilt and supine position

Experimental physiology, 2020-08, Vol.105 (8), p.1216-1222

2020

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CVRanalysis : a free software for analyzing cardiac, vascular and respiratory interactions

Frontiers in physiology, 2024-01, Vol.14, p.1224440-1224440

2024

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Personalized gene and cell therapy for Duchenne Muscular Dystrophy

Editorial: Personalized medicine for neuromuscular disorders

Modeling Patient-Specific Muscular Dystrophy Phenotypes and Therapeutic Responses in Reprogrammed Myotubes Engineered on Micromolded Gelatin Hydrogels

Elucidation of bioinformatic-guided high-prospect drug repositioning candidates for DMD via Swanson linking of target-focused latent knowledge from text-mined categorical metadata

Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD

Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models

Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin

Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue

Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet

Translational research and therapeutic perspectives in dysferlinopathies

Large in-frame 5′ deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature

Truncated prelamin A expression in HGPS-like patients: a transcriptional study

Dysferlin Exon 32 Skipping in Patient Cells

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype

Analysis of the usage of the Core Public Service Vocabulary Application Profile

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

Validation and Detection of Exon Skipping Boosters in DMD Patient Cell Models and mdx Mouse

A well‐tolerated core needle muscle biopsy process suitable for children and adults

How data vocabulary standards enhance the exchange of information exposed through APIs: the case of public service descriptions

Cover Image, Volume 39, Issue 9

Therapeutic exon 'switching' for dysferlinopathies?

Autonomic cardiovascular adaptations to acute head-out water immersion, head-down tilt and supine position

Causal analyses to study autonomic regulation during acute head‐out water immersion, head‐down tilt and supine position

CVRanalysis : a free software for analyzing cardiac, vascular and respiratory interactions

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