Lista de obras -

'Minimal symptom expression' in patients with acetylcholine receptor antibody-positive refractory generalized myasthenia gravis treated with eculizumab

scientific article published on 18 March 2020

A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging

artículo científico publicado en 2013

A new glycogen storage disease caused by a dominant PYGM mutation

artículo científico publicado en 2020

A nonischemic forearm exercise test for McArdle disease

artículo científico publicado en 2002

A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity

scientific article published on 19 June 2020

Aerobic Training in Patients with Congenital Myopathy

artículo científico publicado en 2016

Aerobic conditioning: an effective therapy in McArdle's disease

artículo científico publicado en 2006

Aerobic training in patients with myotonic dystrophy type 1

artículo científico publicado en 2005

Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy

artículo científico publicado en 2006

Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy

artículo científico publicado en 2020

Axial myopathy: an overlooked feature of muscle diseases.

artículo científico publicado en 2015

Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial

artículo científico publicado en 2014

Body weight-supported training in Becker and limb girdle 2I muscular dystrophy

artículo científico publicado en 2016

Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.

artículo científico publicado en 2012

Cardiac manifestations of myotonic dystrophy type 1.

artículo científico

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

artículo científico publicado en 2015

Clinical presentation and mutations in Danish patients with Wilson disease.

artículo científico publicado en 2011

Creatine kinase response to high-intensity aerobic exercise in adult-onset muscular dystrophy

artículo científico publicado en 2013

Cytokine genes as potential biomarkers for muscle weakness in OPMD.

artículo científico publicado en 2016

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

artículo científico publicado en 2020

Decreased variability of the 6-minute walk test by heart rate correction in patients with neuromuscular disease

artículo científico publicado en 2014

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

artículo científico publicado en 2019

Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients

artículo científico publicado en 2011

Diagnosis of Pompe disease: muscle biopsy vs blood-based assays

artículo científico publicado en 2013

Effect of Gender, Disease Duration and Treatment on Muscle Strength in Myasthenia Gravis

artículo científico publicado en 2016

Effect of changes in fat availability on exercise capacity in McArdle disease.

artículo científico publicado en 2009

Endurance training improves fitness and strength in patients with Becker muscular dystrophy

artículo científico publicado en 2008

Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation

artículo científico publicado en 2015

Exercise Therapy in Spinobulbar Muscular Atrophy and Other Neuromuscular Disorders.

artículo científico publicado en 2015

Exercise in muscle glycogen storage diseases

artículo científico publicado en 2014

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9

scientific article published on 28 April 2020

LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.

artículo científico publicado en 2005

Lactate and Energy Metabolism During Exercise in Patients With Blocked Glycogenolysis (McArdle Disease)

artículo científico publicado en 2015

Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity

artículo científico publicado en 2011

Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies

artículo científico publicado en 2016

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

artículo científico publicado en 2015

MRI IN NEUROMUSCULAR DISEASES: AN EMERGING DIAGNOSTIC TOOL AND BIOMARKER FOR PROGNOSIS AND EFFICACY

artículo científico publicado en 2020

MRI in sarcoglycanopathies: a large international cohort study.

artículo científico publicado en 2017

Mechanisms of exertional fatigue in muscle glycogenoses

artículo científico

Muscle atrophy reversed by growth factor activation of satellite cells in a mouse muscle atrophy model

artículo científico publicado en 2014

Muscle biopsies off-set normal cellular signaling in surrounding musculature

artículo científico publicado en 2013

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

artículo científico publicado en 2015

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

artículo científico publicado en 2012

Myocardial fibrosis in patients with myotonic dystrophy type 1: a cardiovascular magnetic resonance study

artículo científico publicado en 2014

Myopathic EMG findings and type II muscle fiber atrophy in patients with Lambert-Eaton myasthenic syndrome

artículo científico publicado en 2013

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

artículo científico publicado en 2020

New patterns of inheritance in mitochondrial disease ⬇️

artículo científico publicado el 17 de octubre de 2003

No effect of triheptanoin on exercise performance in McArdle disease

scientific article published on 14 September 2019

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

artículo científico publicado en 2003

POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy

artículo científico publicado en 2019

Paternal inheritance of mitochondrial DNA

artículo científico publicado en 2002

Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome.

artículo científico publicado en 2014

Phenotype and clinical course in a family with a new de novo Twinkle gene mutation

artículo científico publicado en 2008

Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark

artículo científico publicado en 2017

Physical training for McArdle disease

artículo científico publicado en 2011

Physical training for McArdle disease

artículo científico publicado en 2009

Progression of cardiac involvement in patients with limb-girdle type 2 and Becker muscular dystrophies: A 9-year follow-up study

artículo científico publicado en 2014

Protein turnover and cellular stress in mildly and severely affected muscles from patients with limb girdle muscular dystrophy type 2I.

artículo científico publicado en 2013

Protein-carbohydrate supplements improve muscle protein balance in muscular dystrophy patients after endurance exercise: a placebo-controlled crossover study

scientific article published on 19 November 2014

Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study

artículo científico publicado en 2014

Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study

artículo científico publicado en 2013

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

artículo científico publicado en 2014

Resistance training in patients with limb-girdle and becker muscular dystrophies.

artículo científico publicado en 2012

Responsiveness of outcome measures in myotonic dystrophy type 1

scientific article published on 16 July 2020

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial

artículo científico publicado en 2020

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phas

artículo científico publicado en 2018

The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes

artículo científico publicado en 2013

The effect of oral sucrose on exercise tolerance in patients with McArdle's disease

artículo científico publicado en 2003

Update on new muscle glycogenosis

artículo científico publicado en 2017

cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark

artículo científico publicado en 2008

Lista de obras de

'Minimal symptom expression' in patients with acetylcholine receptor antibody-positive refractory generalized myasthenia gravis treated with eculizumab

A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging

A new glycogen storage disease caused by a dominant PYGM mutation

A nonischemic forearm exercise test for McArdle disease

A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity

Aerobic Training in Patients with Congenital Myopathy

Aerobic conditioning: an effective therapy in McArdle's disease

Aerobic training in patients with myotonic dystrophy type 1

Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy

Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy

Axial myopathy: an overlooked feature of muscle diseases.

Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial

Body weight-supported training in Becker and limb girdle 2I muscular dystrophy

Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.

Cardiac manifestations of myotonic dystrophy type 1.

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

Clinical presentation and mutations in Danish patients with Wilson disease.

Creatine kinase response to high-intensity aerobic exercise in adult-onset muscular dystrophy

Cytokine genes as potential biomarkers for muscle weakness in OPMD.

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

Decreased variability of the 6-minute walk test by heart rate correction in patients with neuromuscular disease

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients

Diagnosis of Pompe disease: muscle biopsy vs blood-based assays

Effect of Gender, Disease Duration and Treatment on Muscle Strength in Myasthenia Gravis

Effect of changes in fat availability on exercise capacity in McArdle disease.

Endurance training improves fitness and strength in patients with Becker muscular dystrophy

Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation

Exercise Therapy in Spinobulbar Muscular Atrophy and Other Neuromuscular Disorders.

Exercise in muscle glycogen storage diseases

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9

LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.

Lactate and Energy Metabolism During Exercise in Patients With Blocked Glycogenolysis (McArdle Disease)

Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity

Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies

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

MRI IN NEUROMUSCULAR DISEASES: AN EMERGING DIAGNOSTIC TOOL AND BIOMARKER FOR PROGNOSIS AND EFFICACY

MRI in sarcoglycanopathies: a large international cohort study.

Mechanisms of exertional fatigue in muscle glycogenoses

Muscle atrophy reversed by growth factor activation of satellite cells in a mouse muscle atrophy model

Muscle biopsies off-set normal cellular signaling in surrounding musculature

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Myocardial fibrosis in patients with myotonic dystrophy type 1: a cardiovascular magnetic resonance study

Myopathic EMG findings and type II muscle fiber atrophy in patients with Lambert-Eaton myasthenic syndrome

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

New patterns of inheritance in mitochondrial disease ⬇️

No effect of triheptanoin on exercise performance in McArdle disease

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy

Paternal inheritance of mitochondrial DNA

Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome.

Phenotype and clinical course in a family with a new de novo Twinkle gene mutation

Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark

Physical training for McArdle disease

Physical training for McArdle disease

Progression of cardiac involvement in patients with limb-girdle type 2 and Becker muscular dystrophies: A 9-year follow-up study

Protein turnover and cellular stress in mildly and severely affected muscles from patients with limb girdle muscular dystrophy type 2I.

Protein-carbohydrate supplements improve muscle protein balance in muscular dystrophy patients after endurance exercise: a placebo-controlled crossover study

Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study

Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

Resistance training in patients with limb-girdle and becker muscular dystrophies.

Responsiveness of outcome measures in myotonic dystrophy type 1

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phas

The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes

The effect of oral sucrose on exercise tolerance in patients with McArdle's disease

Update on new muscle glycogenosis

cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark