List of works by Francesco Muntoni

107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands.

scientific article published in February 2003

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

scientific article

111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands

scientific article published in November 2004

128th ENMC International Workshop on 'Preclinical optimization and Phase I/II Clinical Trials Using Antisense Oligonucleotides in Duchenne Muscular Dystrophy' 22-24 October 2004, Naarden, The Netherlands

scientific article

149th ENMC International Workshop and 1st TREAT-NMD Workshop on: "planning phase i/ii clinical trials using systemically delivered antisense oligonucleotides in duchenne muscular dystrophy".

scientific article published on 22 January 2008

150th ENMC International Workshop: Core Myopathies, 9-11th March 2007, Naarden, The Netherlands

scientific article

182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands.

scientific article published on 5 January 2012

194th ENMC international workshop. 3rd ENMC workshop on exon skipping: towards clinical application of antisense-mediated exon skipping for Duchenne muscular dystrophy 8-10 December 2012, Naarden, The Netherlands.

scientific article published on 24 July 2013

195th ENMC International Workshop: Newborn screening for Duchenne muscular dystrophy 14-16th December, 2012, Naarden, The Netherlands

scientific article published on 20 June 2013

204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24-26 January 2014, Naarden, The Netherlands

scientific article

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands

scientific article published on 28 April 2015

217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29-31 January 2016.

scientific article published on 7 June 2016

240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25-27 January 2019, Hoofddorp, The Netherlands

scientific article published on 16 July 2019

249th ENMC International Workshop: The role of brain dystrophin in muscular dystrophy: Implications for clinical care and translational research, Hoofddorp, The Netherlands, November 29th-December 1st 2019

scientific article published on 15 August 2020

82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands.

scientific article published in February 2002

85th ENMC International Workshop on Congenital Muscular Dystrophy. 6th International CMD Workshop. 1st Workshop of the Myo-Cluster Project 'GENRE'. 27-28th October 2000, Naarden, The Netherlands

scientific article published on 01 January 2002

90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands

scientific article published in February 2002

A Phase 1b Trial to Assess the Pharmacokinetics of Ezutromid in Pediatric Duchenne Muscular Dystrophy Patients on a Balanced Diet

scientific article published on 16 January 2019

A case presenting with delayed motor milestones.

scientific article published on 30 September 2005

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity

scientific article

A critical review of patient and parent caregiver oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy

scientific article published on 22 October 2019

A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance

scientific article

A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping

scientific article

A dystroglycan mutation associated with limb-girdle muscular dystrophy.

scientific article

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

scientific article published on 17 April 2020

A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.

scientific article

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

scientific article published on 11 February 2020

A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures

scientific article published in PLoS ONE

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism

scientific article published on 17 December 2019

A mutation in the thyroid hormone receptor alpha gene.

scientific article published on 14 December 2011

A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement

scientific article published on 27 March 2019

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

scientific article

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan

scientific article published on December 2003

A novel homozygous variant extending the peripheral myelin protein 22 by 9 AMino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia

scientific article published on 15 May 2020

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

scientific article published on 18 January 2013

A novel morpholino oligomer targeting ISS-N1 improves rescue of severe spinal muscular atrophy transgenic mice

scientific article published on 6 March 2013

A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1

scientific article published in 2023

A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity

scientific article

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

scientific article published on 21 March 2019

A translational approach to dystroglycanopathies: a frequent type of muscular dystrophy.

scientific article

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation

scientific article published on 12 June 2013

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies

scientific article published on 01 April 2019

Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies

scientific article published on February 2004

Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy

scientific article published on 16 May 2018

Adenovirus-mediated expression of myogenic differentiation factor 1 (MyoD) in equine and human dermal fibroblasts enables their conversion to caffeine-sensitive myotubes

scientific article published on 23 November 2013

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

scientific article

Age and baseline values predict 12 and 24-month functional changes in type 2 SMA

scientific article published on 25 July 2020

Altered Levels of MicroRNA-9, -206, and -132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy

scientific article published on 05 July 2016

Ambulatory function in spinal muscular atrophy: Age-related patterns of progression.

scientific article published on 26 June 2018

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

scientific article published on 5 July 2016

An effective, low-dosage, intermittent schedule of prednisolone in the long-term treatment of early cases of Duchenne dystrophy

scientific article

Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease

scientific article

Antisense oligonucleotide-mediated exon skipping for Duchenne muscular dystrophy: progress and challenges

scientific article published on June 2012

Antisense suppression of donor splice site mutations in the dystrophin gene transcript

scientific article published on 13 June 2013

Are human and mouse satellite cells really the same?

scientific article

Assessing upper limb function in nonambulant SMA patients: Development of a new module

article

Assessment of the transformation of equine skin-derived fibroblasts to multinucleated skeletal myotubes following lentiviral-induced expression of equine myogenic differentiation 1.

scientific article published on December 2008

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

scientific article published on 12 October 2016

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

scientific article

Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry

scientific article published on 15 August 2019

Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy

scientific article published on 27 January 2016

BAG3 mutations: another cause of giant axonal neuropathy

scientific article published on 01 June 2012

Balance impairment in pediatric charcot-marie-tooth disease

scientific article published on 15 May 2019

Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands.

scientific article published in March 2002

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

scientific article published in December 2002

Bi-allelic mutations in MYL1 cause a severe congenital myopathy

scientific article published on 01 December 2018

Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping

scientific article published in January 2014

Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy

scientific article published on 06 May 2020

Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy

scientific article

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

scientific article

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

article

CD133+ cells derived from skeletal muscles of Duchenne muscular dystrophy patients have a compromised myogenic and muscle regenerative capability

scientific article published on 12 May 2018

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

scientific article

Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.

scientific article published on 14 July 2016

Can clinical signs identify newborns with neuromuscular disorders?

scientific article published in January 2005

Canonical Wnt signalling induces satellite-cell proliferation during adult skeletal muscle regeneration

scientific article

Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.

scientific article published in November 2004

Cardiorespiratory progression over 5 years and role of corticosteroids in DMD: a single site retrospective longitudinal study

scientific article published on 06 May 2020

Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy

scientific article published on 03 September 2019

Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.

scientific article published on 22 December 2016

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

article

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation

scientific article published on 22 November 2009

Challenges of clinical trial design for DMD

scientific article published on 23 October 2015

Chapter 31 Immunopathology and molecular genetics of dystrophinopathies

article

Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders

scientific article published on 29 October 2020

Characterization of recessive RYR1 mutations in core myopathies

scientific article published on 29 August 2006

Characterization of recessive RYR1 mutations in core myopathies

Choline Kinase Beta-Related Muscular Dystrophy, Appearance of Muscle Involvement on Magnetic Resonance Imaging.

scientific article published on 5 November 2015

Chronic systemic therapy with low-dose morpholino oligomers ameliorates the pathology and normalizes locomotor behavior in mdx mice

scientific article

Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review

scientific article published on 15 May 2020

Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor

scientific article published on February 2003

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies

article

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

article

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).

scientific article published in October 2002

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

article

Clinical features of facioscapulohumeral muscular dystrophy 1 in childhood

scientific article published on 20 January 2019

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

scientific article published on 4 May 2016

Clinical utility gene card for: Central core disease

scientific article

Clinical utility gene card for: Multi-minicore disease.

scientific article

Clinical variability in spinal muscular atrophy type III

scientific article published on 14 September 2020

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

scientific article published on 29 January 2009

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

scientific article

Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status.

scientific article published in October 1999

Comparative analysis of antisense oligonucleotide sequences targeting exon 53 of the human DMD gene: Implications for future clinical trials

scientific article

Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients

scientific article published on 28 January 2020

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm

scientific article published on 04 March 2008

Congenital muscular dystrophies

scientific article

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period

scientific article published on 16 June 2017

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Congenital myopathies

scientific article published on 01 October 2008

Congenital myopathies: Natural history of a large pediatric cohort

scientific article

Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction

scientific article published on 2 February 2018

Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome

scientific article published on 15 June 2010

Consensus statement on standard of care for congenital muscular dystrophies

scientific article

Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.

scientific article

Contribution of human muscle-derived cells to skeletal muscle regeneration in dystrophic host mice

scientific article

Core myopathies

scientific article published on December 2011

Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets

scientific article published on 14 May 2015

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

scientific article published on 31 July 2019

Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies

scientific article

Corrigendum: Response to "Railroading at the FDA"

scientific article published on 01 May 2017

Corrigendum: Survival Motor Neuron (SMN) protein is required for normal mouse liver development

scientific article published on 10 November 2016

DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children

scientific article published on 3 July 2013

DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy

scientific article

Daily salbutamol in young patients with SMA type II

scientific article

De novo LMNA mutations cause a new form of congenital muscular dystrophy

scientific article published in August 2008

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

scientific article published on 4 March 2016

Defective glycosylation in congenital muscular dystrophies

scientific article published on April 2004

Defective glycosylation in muscular dystrophy

scientific article

Defects in glycosylation impair satellite stem cell function and niche composition in the muscles of the dystrophic Large(myd) mouse.

scientific article

Design principles for bifunctional targeted oligonucleotide enhancers of splicing

scientific article

Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy

scientific article published on 27 February 2007

Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy

scientific article published on 05 August 2013

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy

article

Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues.

scientific article published on 10 August 2017

Development of a functional assessment scale for ambulatory boys with Duchenne muscular dystrophy

scientific article published on 23 September 2011

Development of an academic disease registry for spinal muscular atrophy

scientific article published on 29 August 2019

Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS).

scientific article published on 20 May 2011

Developmental milestones in type I spinal muscular atrophy

scientific article published on 5 October 2016

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

scientific article published on 9 May 2016

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

scientific article

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.

scientific article

Diagnostic approach to the congenital muscular dystrophies

scientific article

Differential diagnosis of congenital muscular dystrophies

scientific article published on 03 December 2007

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

scientific article published on 23 December 2016

Donor satellite cell engraftment is significantly augmented when the host niche is preserved and endogenous satellite cells are incapacitated

scientific article

Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients.

scientific article published on 22 March 2018

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

scientific article published on 30 November 2017

Dr Joana Domingos (1984–2018)

scholarly article published in June 2018

Dystroglycanopathies: coming into focus

scientific article published on 11 March 2011

Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy

scientific article

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

scientific article

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human

scholarly article by Marcella Neri et al published December 2007 in Neuromuscular Disorders

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

scientific article published on 18 November 2011

Dystrophin quantification: Biological and translational research implications

scientific article

Dystrophinopathies and Limb-Girdle Muscular Dystrophies

scientific article published on 20 April 2017

ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects

article

Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation

scientific article

Early neurodevelopmental assessment in Duchenne muscular dystrophy.

scientific article published on 25 March 2013

Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy

scientific article published in April 1998

Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy

scientific article published in April 2001

Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease

scientific article

Efficacy of idebenone in Duchenne muscular dystrophy.

scientific article published on 20 April 2015

Electromyography and muscle biopsy in paediatric neuromuscular disorders - Evaluation of current practice and literature review

scientific article published on 31 October 2018

Emotional impact of a paediatric exon-skipping therapy trial

scientific article published on 8 November 2011

Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.

scientific article

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies

scientific article

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies

scientific article

Establishment of a human skeletal muscle-derived cell line: biochemical, cellular and electrophysiological characterization.

scientific article published on October 2013

Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients.

scientific article published in September 2011

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

scientific article

Exon 45 skipping through U1-snRNA antisense molecules recovers the Dys-nNOS pathway and muscle differentiation in human DMD myoblasts

scientific article published on 11 September 2012

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

scientific article

Exon skipping quantification by quantitative reverse-transcription polymerase chain reaction in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen

scientific article

Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD

scientific article published on 01 June 2020

Exon-skipping therapy for Duchenne muscular dystrophy – Authors' reply

scientific article published in The Lancet

Expression, regulation and localisation of dystrophin isoforms in human foetal skeletal and cardiac muscle.

scientific article published in December 1999

Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.

scientific article published in May 2004

Fatal infantile neuromuscular presentation of glycogen storage disease type IV.

scientific article

First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood

scientific article published on 21 May 2020

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

scientific article

Fracture prevalence in Duchenne muscular dystrophy

scientific article

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

scientific article

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype ⬇️

scientific article published on October 18, 2010

Fukutin-related protein alters the deposition of laminin in the eye and brain

scientific article published in September 2011

Functional effects of mutations identified in patients with multiminicore disease

scientific article published on January 2007

Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes

scientific article published on April 2006

Functional requirements for fukutin-related protein in the Golgi apparatus

scientific journal article

G.O.2 Proteomic identification of the LIM domain protein FHL1 as the gene-product mutated in reducing body myopathy

article

G.P.12.11 Do revertants increase with age in Duchenne muscular dystrophy boys?

G.P.6.01 Establishing the parameters for clinical trials of antisense oligonucleotide therapy in Duchenne muscular dystrophy

Gain and loss of abilities in type II SMA: A 12-month natural history study

scientific article published on 13 July 2020

Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy

scientific article published on 8 July 2017

Gapmer Antisense Oligonucleotides to Selectively Suppress the Mutant Allele in COL6A Genes in Dominant Ullrich Congenital Muscular Dystrophy

scientific article published on 01 January 2020

Gastrostomy placement in paediatric patients with neuromuscular disorders: indications and outcome

scientific article published on May 2007

Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets

scientific article

Gene therapy in Duchenne muscular dystrophy: Identifying and preparing for the challenges ahead

scientific article published on 16 October 2020

Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping

scientific article published on 01 February 2020

Genetic therapies for inherited neuromuscular disorders

scientific article published on 27 June 2018

Genetic treatments in muscular dystrophies

scientific article published on October 2007

Genome Editing and Muscle Stem Cells as a Therapeutic Tool for Muscular Dystrophies

scientific article

Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation.

scientific article published in February 2005

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene

scientific article

Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations

scientific article published on 05 November 2020

Genotype-phenotype correlations in recessive titinopathies

scientific article published on 11 August 2020

Genotype?phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle ?-actin

article

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

scientific article published on 06 March 2010

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

scientific article published on 17 April 2016

Glycosylation eases muscular dystrophy

scientific article published in July 2004

Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational

scientific article

Human skeletal muscle-derived CD133(+) cells form functional satellite cells after intramuscular transplantation in immunodeficient host mice

scientific article

Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency

scientific article

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

scientific article published on 3 January 2013

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

scientific article

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

article

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

scientific article

Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders

scientific article

Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression

article by Virginia Arechavala-Gomeza et al published 25 November 2009 in Neuropathology and Applied Neurobiology

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

scientific article published on 25 March 2011

Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing: towards a treatment for spinal muscular atrophy

scientific article

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

scientific article published on April 2017

In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy

scientific article published on May 2004

Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy

scientific article published on 05 March 2020

Inducing muscle hypertrophy as a therapeutic strategy for muscular dystrophies. 122nd ENMC International Workshop, Naarden, The Netherlands, 28-30 November 2003.

scientific article published in September 2004

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

scientific article

Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients.

scientific article

Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene

scientific article published in November 2002

Investigating the pathology of Emery-Dreifuss muscular dystrophy

scientific article

Is there post-natal muscle growth in amyoplasia? A sequential MRI study

scientific article published on 27 May 2009

KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement

scientific article published on 24 February 2020

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

article

LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness

scientific article published on 05 August 2020

LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort

scientific article published on 10 September 2020

Lack of myostatin results in excessive muscle growth but impaired force generation

scholarly article

Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy

scientific article published on October 1998

Lancet Commission: Stem cells and regenerative medicine.

scientific article published on 3 October 2017

Large in-frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype.

scientific article

Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency

scientific article

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

scientific article published on 19 March 2009

Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy

scientific article published on 2 June 2014

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

scientific article

Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3

scientific article

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

scientific article

Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy

scientific article published on 18 December 2012

Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial

scientific article published on 05 November 2020

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

scientific article published on 25 June 2019

Longitudinal natural history in young boys with Duchenne muscular dystrophy

scientific article published on 26 September 2019

Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy

scientific article published on 27 December 2019

Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy

scientific article published on 17 March 2020

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

scientific article

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

scientific article published on 22 December 2015

MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet

scientific article

MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide

scientific article published on 10 July 2017

MRI in sarcoglycanopathies: a large international cohort study.

scientific article published on 9 September 2017

MYO-MRI diagnostic protocols in genetic myopathies

scientific article published on 16 September 2019

Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations

scientific article published in December 2004

Magnetic resonance imaging of muscle in nemaline myopathy

Managing clinically significant findings in research: the UK10K example

scientific article

Mature adult dystrophic mouse muscle environment does not impede efficient engrafted satellite cell regeneration and self-renewal.

scientific article published on October 2009

Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy

scientific article

Measuring dystrophin—faster is not necessarily better

Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging

scientific article published in March 1999

Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings

scientific article published on September 2001

Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy

scientific article published on 27 August 2020

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

scientific article published in January 2008

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene

scientific article

Minicore myopathy in children: a clinical and histopathological study of 19 cases.

scientific article published in June 2000

Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy

scientific article published on 3 February 2018

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

scientific article

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis

scientific article published on 04 September 2019

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

scientific article

Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy

scientific article

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

scientific article

Multiple exon skipping strategies to by-pass dystrophin mutations

scientific article

Multiple roles of integrin-α3 at the neuromuscular junction

scientific article published on 6 April 2017

Multiple transcripts in the exons 47–53 region of the dystrophin gene: does this influence dystrophin expression in normal and dystrophic tissues? ⬇️

scholarly article

Muscle MRI findings in a three-generation family affected by Bethlem myopathy

scientific article published on 01 January 2002

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures

scholarly article by Eugenio Mercuri et al published February 2005 in Neuromuscular Disorders

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

scientific article published on 01 April 2005

Muscle MRI in inherited neuromuscular disorders: past, present, and future

scientific article published on February 2007

Muscle biopsies in clinical trials for Duchenne muscular dystrophy - Patients' and caregivers' perspective

scientific article published on 12 June 2019

Muscle development genes: their relevance in neuromuscular disorders

scientific article

Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders

scientific article

Muscle involvement in the cerebro-oculo-facio-skeletal syndrome

scientific article published on February 2004

Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations

scientific article published in September 2011

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine

scientific article published on 01 February 2010

Muscle metabolic alterations assessed by 31-phosphorus magnetic resonance spectroscopy in mild Becker muscular dystrophy.

scientific article published on 26 September 2011

Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies

scientific article

Musclesense: a Trained, Artificial Neural Network for the Anatomical Segmentation of Lower Limb Magnetic Resonance Images in Neuromuscular Diseases

scientific article published on 05 September 2020

Muscular Dystrophy Campaign Funded Workshop on Management of Scoliosis in Duchenne Muscular Dystrophy 24 January 2005, London, UK.

scientific article

Muscular dystrophies

scientific article published on 01 March 2013

Muscular dystrophies

scientific article published on 01 November 2019

Muscular dystrophies due to glycosylation defects

scientific article published on October 2008

Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies

scientific article published on October 2011

Muscular dystrophy campaign sponsored workshop: recommendation for respiratory care of children with spinal muscular atrophy type II and III. 13th February 2002, London, UK.

scientific article published in February 2003

Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype

scientific article

Muscular dystrophy: new challenges and review of the current clinical trials.

scientific article published on December 2013

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

scientific article

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis

scientific article published on 8 February 2016

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

scientific article

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia

scientific article

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

scientific article

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

scientific article

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

scientific article

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

scientific article published on 8 February 2017

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

scientific article published on 06 June 2013

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

scientific article

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

scientific article

Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.

scientific article published in November 2002

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis

scientific article

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

scientific article

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

scientific article (publication date: November 2003)

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

scientific article published on 15 November 2010

Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development

scientific article published on 18 October 2019

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

scientific article

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

scientific article published on 24 June 2020

Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy

scientific article published on 07 February 2020

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease.

scientific article published on 25 July 2013

NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

scientific article

NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research: A National Institute for Neurological Disorders and Stroke Project.

scientific article published in January 2018

Natural history of Charcot-Marie-Tooth disease during childhood

scientific article

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

scientific article published on 08 January 2021

Natural history of pulmonary function in collagen VI-related myopathies

scientific article

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

scientific article published on 27 February 2013

Nebulin mutations in autosomal recessive nemaline myopathy: an update

scientific article published on 01 October 2002

Necroptosis mediates myofibre death in dystrophin-deficient mice

scientific article published in Nature Communications

Necroptosis, a programmed form of necrosis, participates in muscle degeneration in Duchenne muscular dystrophy

scholarly article

Nemaline myopathy caused by absence of alpha-skeletal muscle actin

scientific article published on February 2007

Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?

scientific article published in July 2001

Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations.

scientific article published on 14 September 2015

Neurofilament as a potential biomarker for spinal muscular atrophy

scientific article published on 17 April 2019

Neurological problems in the newborn

Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy

scientific article published on 21 March 2020

Novel free-circulating and extracellular vesicle-derived miRNAs dysregulated in Duchenne muscular dystrophy

scientific article published on 20 November 2020

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

scientific article

Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy

scientific article published on 27 July 2019

O03 Antisense approaches in SMA

O04 Results of a systemic antisense study in Duchenne muscular dystrophy

Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system

scientific article published on 17 June 2015

Old measures and new scores in spinal muscular atrophy patients

scientific article

Optogenetic modeling of human neuromuscular circuits in Duchenne muscular dystrophy with CRISPR and pharmacological corrections

scientific article

Outcome measures in Duchenne muscular dystrophy: sensitivity to change, clinical meaningfulness, and implications for clinical trials

scientific article published on 27 November 2017

Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment

scientific article

P.P.4 01 Glyc-O-genetics of Walker–Warburg syndrome and related disorders

article

P01 Correlation of internally deleted dystrophin and dystrophin-associated protein expression with clinical severity in Becker muscular dystrophy

P03 Exon skipping and dystrophin restoration in Duchenne muscular dystrophy patients after systemic phosphorodiamidate morpholino oligomer treatment

P03 The characterisation of out of frame duplications in DMD patients

P05 Induction of dystrophin in Duchenne muscular dystrophy patients by antisense oligonucleotide AVI-4658 restores the dystrophin-associated glycoprotein complex

P1.52 BIO-NMD: Discovery and validation of biomarkers for neuromuscular diseases (NMDs) – An EU funded FP7 project

P10 The next DMD exon skipping trial: selection of AO target

P16 Towards a consensus on biochemical outcome measures for Duchenne muscular dystrophy clinical trials

P27 Chronic long term administration of phosphorodiamidate morpholino oligomer profoundly ameliorates activity, muscle strength and phenotype in dystrophic mdx mice

P3.08 Induction of dystrophin in DMD patients by antisense oligonucleotide AVI-4658 restores the dystrophin glycoprotein complex

POMK regulates dystroglycan function via LARGE-mediated elongation of matriglycan

scientific article published on 25 September 2020

Passive avoidance behaviour deficit in the mdx mouse ⬇️

scientific article published on January 1, 1991

Patient and parent oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in SMA. Rome, 13 July 2019

scientific article published on 07 March 2020

Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials.

scientific article published on 3 December 2015

Perinatal dyskinesia as a presenting feature in Prader Willi syndrome

scientific article published on 21 August 2008

Peripheral neuropathy--a novel finding in dyskeratosis congenita

scientific article

Personalized exon skipping strategies to address clustered non-deletion dystrophin mutations ⬇️

scientific article published on December 1, 2010

Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice

scientific article published on 14 October 2020

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease

scientific article published on 04 April 2016

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

scientific article

Phenotypic spectrum associated with mutations in the fukutin-related protein gene

scientific article published in April 2003

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations

scientific article published on 2 January 2013

Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients.

scientific article published in January 2018

Prednisolone-induced changes in dystrophic skeletal muscle

scientific article

Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.

scientific article published in October 2005

Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry

scientific article published in June 2004

Prevalence of congenital muscular dystrophy in Italy: a population study

scientific article

Primary Myocardial Dysfunction in Autosomal Dominant EDMD. A Tissue Doppler and Cardiovascular Magnetic Resonance Study

scientific article published on 01 January 2006

Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome.

scientific article published on January 2003

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

scientific article

Psychosocial adjustment in siblings of young people with Duchenne muscular dystrophy.

scientific article published on 22 October 2009

Publisher Correction: Necroptosis mediates myofibre death in dystrophin-deficient mice

scientific article published in Nature Communications

Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function

scientific article published on 01 July 2018

Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres

scientific article published on 01 June 2019

RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design

scientific article published on 01 January 2020

RNA-targeted drugs for neuromuscular diseases

scientific article published on 01 January 2021

Randomisation versus prioritisation in a managed access programme: Lessons from spinal muscular atrophy

scientific article published on 17 April 2020

Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol study

scientific article published on 19 December 2018

Rational design of antisense oligomers to induce dystrophin exon skipping.

scientific article

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

scientific article published on 23 May 2017

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

scientific article published in July 2010

Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS

scientific article published on 06 August 2020

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

scientific article

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

scientific article published in January 2003

Repeated low doses of morpholino antisense oligomer: an intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response

scientific article

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

scientific article

Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology

scientific article published on 01 January 2019

Respiratory management of congenital myasthenic syndromes in childhood: Workshop 8th December 2009, UCL Institute of Neurology, London, UK ⬇️

scientific article published on September 17, 2010

Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study

scientific article published on 16 October 2020

Response

Response to "Railroading at the FDA"

scientific article published on 01 March 2017

Restoration of Functional Full-Length Dystrophin After Intramuscular Transplantation of Foamy Virus-Transduced Myoblasts

scientific article published on 10 January 2020

Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model

scientific article published on 26 January 2022

Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy

scientific article published on 15 November 2011

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies

scientific article published on 28 September 2014

Reversible immortalisation, human artificial chromosomes, and induced pluripotency: new gene and cell therapy technologies for Duchenne muscular dystrophy

scientific article published in The Lancet

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials

Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool.

scientific article

Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy

scientific article

Revised North Star ambulatory assessment for young boys with Duchenne muscular dystrophy

Revised upper limb module for spinal muscular atrophy: 12 month changes

scientific article published on 07 February 2019

Revised upper limb module for spinal muscular atrophy: Development of a new module.

scientific article

Rimeporide as a first- in-class NHE-1 inhibitor: Results of a phase Ib trial in young patients with Duchenne Muscular Dystrophy

scientific article published on 11 June 2020

RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.

scientific article published on 17 April 2013

SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function

scientific article

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome

scientific article published on 14 September 2016

SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder

scientific article published on 14 April 2015

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

scientific article published on 11 October 2018

Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study

scientific article published on 30 January 2020

Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study

scientific article

Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial.

scientific article

Safety, Tolerability, and Pharmacokinetics of SMT C1100, a 2-Arylbenzoxazole Utrophin Modulator, following Single- and Multiple-Dose Administration to Pediatric Patients with Duchenne Muscular Dystrophy

scientific article

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations

scientific article published on 05 December 2012

Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials

scientific article published on 10 October 2020

Semi-Automated Analysis of Diaphragmatic Motion with Dynamic Magnetic Resonance Imaging in Healthy Controls and Non-Ambulant Subjects with Duchenne Muscular Dystrophy.

scientific article published on 26 January 2018

Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy

scientific article published in December 1996

Serial casting of the ankles in Duchenne muscular dystrophy: can it be an alternative to surgery?

scientific article published on 15 February 2007

Severe persistent injection site reactions after subcutaneous 2'-O-methyl phosphorothioate oligonucleotide therapy for Duchenne muscular dystrophy

scientific article published on 28 November 2017

Siblings of young people with Duchenne muscular dystrophy – A qualitative study of impact and coping ⬇️

scientific article published on August 21, 2010

Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms

scientific article published on 26 June 2017

Skeletal muscle involvement in infantile systemic hyalinosis

article

Sleep and well-being in young men with neuromuscular disorders receiving non-invasive ventilation and their carers

scientific article published on 16 June 2010

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

scientific article

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders

scientific article

Spinal muscular atrophy - insights and challenges in the treatment era

scientific article published on 14 October 2020

Stakeholder collaboration for spinal muscular atrophy therapy development

scientific article published on 01 April 2017

Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy.

scientific article published on July 2016

Stem cells to treat muscular dystrophies – Where are we? ⬇️

scientific article published on November 4, 2010

Steroids in Duchenne muscular dystrophy: from clinical trials to genomic research

scientific article

Stridor as a neonatal presentation of skeletal muscle sodium channelopathy

scientific article published on 01 January 2011

Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I

scientific journal article

Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy

scientific article published on 6 October 2014

Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease

scientific article

Syncoilin upregulation in muscle of patients with neuromuscular disease

scientific article

Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy

scientific article

T.P.1 02 A phase I/II clinical trial in Duchenne muscular dystrophy using IM and IV delivered antisense oligonucleotides: The MDEX consortium

T.P.1.07 Correcting SMN2 splicing with tailed antisense oligoribonucleotides: a promising therapeutic strategy for spinal muscular atrophy

T.P.31 Biochemical and clinical variability of Becker muscular dystrophy: Predicting optimal target exons for exon skipping therapy in Duchenne muscular dystrophy

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

scientific article published on 02 January 2020

Targeted exon skipping to address "leaky" mutations in the dystrophin gene.

scientific article

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

scientific article

The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation

scientific article (publication date: 2003)

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials

scientific article published on 2 March 2015

The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.

scientific article

The authors reply: Letter on: "Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy" by Zhou et al

scientific article published on 23 July 2020

The congenital muscular dystrophies in 2004: a century of exciting progress

scientific article published in October 2004

The contribution of human synovial stem cells to skeletal muscle regeneration

scientific article

The effect of the muscle environment on the regenerative capacity of human skeletal muscle stem cells.

scientific article published on 28 April 2015

The ever-expanding spectrum of congenital muscular dystrophies

scientific article published on July 2012

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

scientific article published on May 2006

The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I

article

The multiple phenotypes of arthrogryposis multiplex congenita with reference to the neurogenic variant

scientific article published on 22 February 2011

The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice

scientific article

Therapeutic Aspects in Congenital Myopathies

scientific article published on 16 January 2019

Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops: TREAT-NMD/ENMC Workshop on outcome measures, 12th–13th May 2007, Naarden, The Netherlands; TREAT-NMD Workshop on outcome measures in exper

article published in 2008

Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophies

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

scientific article

Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease

scientific article published on June 2013

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

scientific article

Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy

scientific article published on 03 July 2020

Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes

scientific article published on 01 January 2005

Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and Function Define Endpoints for Clinical Trials

scientific article

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

scientific article

Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability

scientific article

Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain

scientific article published in May 1997

Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy

scientific article published on 13 January 2016

Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels?

scientific article published on 31 May 2016

What's new in neuromuscular disorders? The congenital myopathies

scientific article

Whole-genome sequencing and the clinician: a tale of two cities

scientific article

X-inactivation patterns in carriers of X-linked myotubular myopathy.

scientific article

X-linked dilated cardiomyopathy and the dystrophin gene

scientific article

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

scientific article

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