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Dystrophin and mutations: one gene, several proteins, multiple phenotypes

Lancet neurology, 2003-12, Vol.2 (12), p.731-740

2003

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Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

The Lancet (British edition), 2011-08, Vol.378 (9791), p.595-605

2011

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Decellularised skeletal muscles allow functional muscle regeneration by promoting host cell migration

Scientific reports, 2018-05, Vol.8 (1), p.8398-20, Article 8398

2018

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MyoD-induced reprogramming of human fibroblasts and urinary stem cells in vitro : protocols and their applications

Frontiers in physiology, 2023-05, Vol.14, p.1145047-1145047

2023

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A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring

International journal of molecular sciences, 2023-03, Vol.24 (6), p.5215

2023

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A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples

PloS one, 2018-03, Vol.13 (3), p.e0194540-e0194540

2018

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Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy

Journal of cachexia, sarcopenia and muscle, 2022-04, Vol.13 (2), p.1360-1372

2022

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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

Brain (London, England : 1878), 2013, Vol.136 (Pt 1), p.269-281

2013

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The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy

Acta neuropathologica communications, 2021-01, Vol.9 (1), p.7-7, Article 7

2021

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Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases

Frontiers in physiology, 2021-10, Vol.12, p.716471-716471

2021

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A high-throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies

Acta neuropathologica communications, 2020-04, Vol.8 (1), p.53-53, Article 53

2020

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Myostatin Is a Quantifiable Biomarker for Monitoring Pharmaco-gene Therapy in Duchenne Muscular Dystrophy

Molecular therapy. Methods & clinical development, 2020-09, Vol.18, p.415-421

2020

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Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

Annals of neurology, 2006-11, Vol.60 (5), p.603-610

2006

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Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle

PloS one, 2010-12, Vol.5 (12), p.e14434-e14434

2010

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Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies

PloS one, 2013-07, Vol.8 (7), p.e68958-e68958

2013

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Defective glycosylation in muscular dystrophy

The Lancet (British edition), 2002-11, Vol.360 (9343), p.1419-1421

2002

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Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy

Human molecular genetics, 2005-03, Vol.14 (5), p.657-665

2005

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Irradiation dependent inflammatory response may enhance satellite cell engraftment

Scientific reports, 2020-07, Vol.10 (1), p.11119-11119, Article 11119

2020

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Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

Molecular genetics and metabolism reports, 2016-06, Vol.7 (C), p.55-62

2016

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Muscular Dystrophies Due to Glycosylation Defects

Neurotherapeutics, 2008-10, Vol.5 (4), p.627-632

2008

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Relocalization of neuronal nitric oxide synthase (nNOS) as a marker for complete restoration of the dystrophin associated protein complex in skeletal muscle

Neuromuscular disorders : NMD, 2003, Vol.13 (1), p.21-31

2003

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Restoration of the Dystrophin-associated Glycoprotein Complex After Exon Skipping Therapy in Duchenne Muscular Dystrophy

Molecular therapy, 2012-02, Vol.20 (2), p.462-467

2012

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Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies

Current opinion in neurology, 2011-10, Vol.24 (5), p.437-442

2011

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Dystrophin and mutations: one gene, several proteins, multiple phenotypes

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

Decellularised skeletal muscles allow functional muscle regeneration by promoting host cell migration

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

MyoD-induced reprogramming of human fibroblasts and urinary stem cells in vitro : protocols and their applications

A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring

A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples

Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy

POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy

Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases

A high-throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies

Myostatin Is a Quantifiable Biomarker for Monitoring Pharmaco-gene Therapy in Duchenne Muscular Dystrophy

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle

Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies

Defective glycosylation in muscular dystrophy

Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy

Irradiation dependent inflammatory response may enhance satellite cell engraftment

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

Muscular Dystrophies Due to Glycosylation Defects

Relocalization of neuronal nitric oxide synthase (nNOS) as a marker for complete restoration of the dystrophin associated protein complex in skeletal muscle

Restoration of the Dystrophin-associated Glycoprotein Complex After Exon Skipping Therapy in Duchenne Muscular Dystrophy

Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies

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