John Vissing
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John Vissing's Degrees
- PhD Computer Science Stanford University
- Masters Artificial Intelligence University of California, Berkeley
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(Suggest an Edit or Addition)John Vissing's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Paternal inheritance of mitochondrial DNA. (2002) (397)
- Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study (2017) (341)
- Recombination of Human Mitochondrial DNA (2004) (298)
- The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients. (2003) (234)
- 229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017 (2018) (199)
- The effect of oral sucrose on exercise tolerance in patients with McArdle's disease. (2003) (192)
- Identification and Characterization of a Common Set of Complex I Assembly Intermediates in Mitochondria from Patients with Complex I Deficiency* (2003) (179)
- Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy. (2006) (168)
- Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. (2007) (168)
- Exercise-Induced Changes in Local Cerebral Glucose Utilization in the Rat (1996) (163)
- Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study (2013) (153)
- Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy (2003) (144)
- Spontaneous "second wind" and glucose-induced second "second wind" in McArdle disease: oxidative mechanisms. (2002) (140)
- High prevalence and phenotype–genotype correlations of limb girdle muscular dystrophy type 2I in Denmark (2006) (137)
- McArdle disease: a clinical review (2010) (136)
- Aerobic training improves exercise performance in facioscapulohumeral muscular dystrophy (2005) (129)
- Cardiac manifestations of myotonic dystrophy type 1. (2012) (127)
- Aerobic conditioning: An effective therapy in McArdle's disease (2006) (125)
- Long‐term safety and efficacy of eculizumab in generalized myasthenia gravis (2019) (120)
- Guidance for the management of myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS) during the COVID-19 pandemic (2020) (119)
- Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy (2012) (114)
- Aerobic training in patients with myotonic dystrophy type 1 (2005) (113)
- Endurance training improves fitness and strength in patients with Becker muscular dystrophy. (2008) (110)
- Muscle glycogenosis due to phosphoglucomutase 1 deficiency. (2009) (100)
- European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience (2017) (99)
- Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI (2006) (98)
- A nonischemic forearm exercise test for McArdle disease (2002) (97)
- Open-Label Trial of Anti-TNF-α in Dermato- and Polymyositis Treated Concomitantly with Methotrexate (2008) (93)
- A diagnostic cycle test for McArdle's disease (2003) (93)
- Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis. (2007) (93)
- Endurance training (2007) (90)
- Lactate production and clearance in exercise. Effects of training. A mini‐review (1998) (89)
- Tissue specific distribution of the 3243A→G mtDNA mutation (2006) (88)
- Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy (2015) (88)
- Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations (2005) (85)
- Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene (2001) (81)
- Role of 5′AMP‐activated protein kinase in glycogen synthase activity and glucose utilization: insights from patients with McArdle's disease (2002) (80)
- Reduced levels of skeletal muscle Na+K+-ATPase in McArdle disease (1998) (80)
- Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2I: A Multinational Cross-Sectional Study (2014) (79)
- Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype (2004) (75)
- Congenital Titinopathy: Comprehensive characterization and pathogenic insights (2018) (75)
- Severe paraspinal muscle involvement in facioscapulohumeral muscular dystrophy (2014) (75)
- Bezafibrate in skeletal muscle fatty acid oxidation disorders (2014) (73)
- Oxidative capacity correlates with muscle mutation load in mitochondrial myopathy (2003) (72)
- Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation. (2006) (72)
- Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT): a multicentre, randomised, placebo-controlled, phase 3 trial (2021) (72)
- Sympathetic activation in exercise is not dependent on muscle acidosis. Direct evidence from studies in metabolic myopathies. (1998) (72)
- Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. (2013) (72)
- Fat Replacement of Paraspinal Muscles with Aging in Healthy Adults (2017) (69)
- MRI as outcome measure in facioscapulohumeral muscular dystrophy: 1-year follow-up of 45 patients (2017) (68)
- Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial (2019) (68)
- A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. (2016) (68)
- Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression (2013) (67)
- Effect of deficient muscular glycogenolysis on extramuscular fuel production in exercise. (1992) (66)
- No spontaneous second wind in muscle phosphofructokinase deficiency (2004) (64)
- Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy. (2008) (64)
- Diagnosis of Pompe disease: muscle biopsy vs blood-based assays. (2013) (63)
- Effect of diet on exercise tolerance in carnitine palmitoyltransferase II deficiency (2003) (63)
- Effect of oral sucrose shortly before exercise on work capacity in McArdle disease. (2008) (62)
- LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype (2005) (62)
- COVID-19-associated risks and effects in myasthenia gravis (CARE-MG) (2020) (60)
- Fuel utilization in patients with very long‐chain acyl‐coa dehydrogenase deficiency (2004) (57)
- A forearm exercise screening test for mitochondrial myopathy (2002) (56)
- A new mitochondrial tRNAMet gene mutation in a patient with dystrophic muscle and exercise intolerance (1998) (56)
- Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies. (2016) (55)
- Physical training for McArdle disease. (2011) (53)
- New patterns of inheritance in mitochondrial disease. (2003) (53)
- Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies (2012) (53)
- Carbohydrate- and protein-rich diets in McArdle disease: effects on exercise capacity (2008) (53)
- Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature (2015) (53)
- Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease. (2009) (52)
- Cardiac involvement in myotonic dystrophy: a nationwide cohort study. (2014) (51)
- Ventromedial hypothalamic regulation of hormonal and metabolic responses to exercise. (1989) (51)
- Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? (2008) (50)
- Static muscle contraction reflexly increases adrenal sympathetic nerve activity in rats. (1991) (50)
- Effect of aerobic training in patients with spinal and bulbar muscular atrophy (Kennedy disease) (2009) (49)
- Exercise fuel mobilization in mitochondrial myopathy: A metabolic dilemma (1996) (49)
- Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy (2014) (48)
- The exercise metaboreflex is maintained in the absence of muscle acidosis: insights from muscle microdialysis in humans with McArdle's disease (2001) (48)
- The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes. (2013) (48)
- Patients with severe muscle wasting are prone to develop hypoglycemia during fasting (2003) (47)
- MRI in sarcoglycanopathies: a large international cohort study (2017) (46)
- The antimyotonic effect of lamotrigine in non‐dystrophic myotonias: a double‐blind randomized study (2017) (46)
- Resistance training in patients with limb‐girdle and becker muscular dystrophies (2013) (46)
- Effect of sildenafil on skeletal and cardiac muscle in Becker muscular dystrophy (2014) (46)
- Bimagrumab vs Optimized Standard of Care for Treatment of Sarcopenia in Community-Dwelling Older Adults (2020) (45)
- Multiple mtDNA deletions with features of MNGIE (2002) (45)
- Short‐ and long‐term effects of endurance training in patients with mitochondrial myopathy (2009) (45)
- A decline in PABPN1 induces progressive muscle weakness in Oculopharyngeal muscle dystrophy and in muscle aging (2013) (44)
- Fat metabolism during exercise in patients with McArdle disease (2009) (44)
- Clinical and molecular characterization of limb‐girdle muscular dystrophy due to LAMA2 mutations (2011) (44)
- Decreased insulin action in skeletal muscle from patients with McArdle's disease. (2002) (44)
- Aerobic training and postexercise protein in facioscapulohumeral muscular dystrophy (2015) (43)
- Two- and 6-minute walk tests assess walking capability equally in neuromuscular diseases (2016) (42)
- [Paternal inheritance of mitochondrial DNA]. (2003) (42)
- Exercise tolerance in carnitine palmitoyltransferase II deficiency with IV and oral glucose (2002) (42)
- Endocrine function in 97 patients with myotonic dystrophy type 1 (2012) (42)
- Clinical presentation and mutations in Danish patients with Wilson disease (2011) (42)
- Training improves oxidative capacity, but not function, in spinal muscular atrophy type III (2015) (41)
- No evidence for paternal inheritance of mtDNA in patients with sporadic mtDNA mutations (2004) (41)
- Axial myopathy: an overlooked feature of muscle diseases. (2016) (41)
- Deletion of exon 16 of the dystrophin gene is not associated with disease (2007) (41)
- Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E (2015) (41)
- Decrement of compound muscle action potential is related to mutation type in myotonia congenita (2003) (41)
- Anti-gravity training improves walking capacity and postural balance in patients with muscular dystrophy (2014) (41)
- Cycle ergometry is not a sensitive diagnostic test for mitochondrial myopathy (2003) (41)
- Muscle phosphoglycerate mutase deficiency revisited. (2009) (40)
- Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients (2011) (40)
- Contractile properties are disrupted in Becker muscular dystrophy, but not in limb girdle type 2I (2016) (40)
- Effect of liver glycogen content on glucose production in running rats. (1989) (39)
- Oral branched-chain amino acids do not improve exercise capacity in McArdle disease (1998) (39)
- Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness (2018) (39)
- High prevalence of cardiac involvement in patients with myotonic dystrophy type 1: a cross-sectional study. (2014) (39)
- Myocardial fibrosis in patients with myotonic dystrophy type 1: a cardiovascular magnetic resonance study (2014) (39)
- Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness (2020) (39)
- MYO-MRI diagnostic protocols in genetic myopathies (2019) (38)
- 31P-MRS of skeletal muscle is not a sensitive diagnostic test for mitochondrial myopathy (2007) (38)
- Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency? (2013) (37)
- LAMA2‐related myopathy: Frequency among congenital and limb‐girdle muscular dystrophies (2015) (37)
- 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 phase 1, open-label, multicenter, multinational, ascend (2019) (37)
- Autosomal dominant monosymptomatic myotonia permanens (2006) (36)
- Exercise intolerance in mitochondrial myopathy is not related to lactic acidosis (2001) (35)
- Muscle structural changes in mitochondrial myopathy relate to genotype (2003) (35)
- European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) (2019) (35)
- Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency. (2005) (34)
- Effect of immobilization on glucose transport and glucose transporter expression in rat skeletal muscle. (1995) (33)
- Progression of cardiac involvement in patients with limb-girdle type 2 and Becker muscular dystrophies: a 9-year follow-up study. (2015) (33)
- New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. (2020) (32)
- MRI in Neuromuscular Diseases: An Emerging Diagnostic Tool and Biomarker for Prognosis and Efficacy (2020) (32)
- Eculizumab improves fatigue in refractory generalized myasthenia gravis (2019) (32)
- Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy (2018) (31)
- Blocked muscle fat oxidation during exercise in neutral lipid storage disease. (2012) (30)
- Late onset of stroke-like episode associated with a 3256C→T point mutation of mitochondrial DNA (2003) (30)
- PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose (2017) (30)
- Fatigue in patients with spinal muscular atrophy type II and congenital myopathies: evaluation of the fatigue severity scale (2014) (30)
- Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark (2017) (30)
- Prevalence of migraine in persons with the 3243A>G mutation in mitochondrial DNA (2016) (30)
- Change in muscle strength over time in spinal muscular atrophy types II and III. A long-term follow-up study (2012) (29)
- Growth and Differentiation Factor 15 as a biomarker for mitochondrial myopathy. (2019) (29)
- MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement (2019) (29)
- Creatine kinase response to high‐intensity aerobic exercise in adult‐onset muscular dystrophy (2013) (29)
- Visual impairment in anti‐GQ1b positive Miller Fisher syndrome (2001) (29)
- Effect of changes in fat availability on exercise capacity in McArdle disease. (2009) (28)
- Paternal comeback in mitochondrial DNA inheritance (2019) (28)
- Decreased Variability of the 6-Minute Walk Test by Heart Rate Correction in Patients with Neuromuscular Disease (2014) (28)
- Muscle phosphoglycerate mutase deficiency with tubular aggregates: Effect of dantrolene (1999) (28)
- Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency. (2013) (28)
- EFNS review on the role of muscle biopsy in the investigation of myalgia (2013) (27)
- cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark (2008) (27)
- Fat and carbohydrate metabolism during exercise in late-onset Pompe disease. (2012) (27)
- Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies (2020) (27)
- Aerobic training in persons who have recovered from juvenile dermatomyositis (2013) (27)
- Aerobic fitness after JDM--a long-term follow-up study. (2013) (27)
- Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T) (2016) (26)
- Patients with medium-chain acyl-coenzyme a dehydrogenase deficiency have impaired oxidation of fat during exercise but no effect of L-carnitine supplementation. (2013) (26)
- Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome. (2014) (26)
- Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints (2019) (26)
- Muscle phosphorylase kinase deficiency (2012) (25)
- Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity (2011) (25)
- POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy (2019) (25)
- Resistance training and aerobic training improve muscle strength and aerobic capacity in chronic inflammatory demyelinating polyneuropathy (2018) (25)
- Endocrine function over time in patients with myotonic dystrophy type 1 (2015) (24)
- Muscle Atrophy Reversed by Growth Factor Activation of Satellite Cells in a Mouse Muscle Atrophy Model (2014) (24)
- Relationship between muscle inflammation and fat replacement assessed by MRI in facioscapulohumeral muscular dystrophy (2019) (24)
- Reflex control of glucoregulatory exercise responses by group III and IV muscle afferents. (1994) (24)
- Do carriers of PYGM mutations have symptoms of McArdle disease? (2006) (24)
- A pilot study of muscle plasma protein changes after exercise (2014) (24)
- No effect of bezafibrate in patients with CPTII and VLCAD deficiencies (2015) (24)
- Update on new muscle glycogenosis (2017) (23)
- Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III (2015) (23)
- Mobilization of glucoregulatory hormones and glucose by hypothalamic locomotor centers. (1989) (23)
- Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial (2018) (23)
- Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis‐myalgia syndrome (2018) (22)
- Regulation of hepatic glucose production in running rats studied by glucose infusion. (1988) (22)
- Exercise in muscle glycogen storage diseases (2015) (22)
- Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene (2013) (22)
- Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease (2016) (22)
- ‘Minimal symptom expression’ in patients with acetylcholine receptor antibody-positive refractory generalized myasthenia gravis treated with eculizumab (2020) (22)
- Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations (2010) (22)
- High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects. (2009) (22)
- ‘Minimal symptom expression’ in patients with acetylcholine receptor antibody-positive refractory generalized myasthenia gravis treated with eculizumab (2020) (22)
- Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy (2014) (22)
- Muscle contractility in spinobulbar muscular atrophy (2019) (21)
- Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease-a long-term follow-up. (2014) (21)
- Aerobic training in patients with anoctamin 5 myopathy and hyperckemia (2014) (21)
- Refining the spinobulbar muscular atrophy phenotype by quantitative MRI and clinical assessments (2019) (20)
- Zilucoplan: An Investigational Complement C5 Inhibitor for the Treatment of Acetylcholine Receptor Autoantibody–Positive Generalized Myasthenia Gravis (2021) (20)
- Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy (2020) (20)
- Paradoxically enhanced glucose production during exercise in humans with blocked glycolysis caused by muscle phosphofructokinase deficiency (1996) (20)
- Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform. (2019) (20)
- Nampt controls skeletal muscle development by maintaining Ca2+ homeostasis and mitochondrial integrity (2021) (19)
- High-intensity interval training in facioscapulohumeral muscular dystrophy type 1: a randomized clinical trial (2017) (19)
- Severe axial myopathy in McArdle disease. (2014) (19)
- Lactate metabolism during exercise in patients with mitochondrial myopathy (2013) (19)
- No muscle involvement in myoclonus‐dystonia caused by ɛ‐sarcoglycan gene mutations (2008) (19)
- Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia (2009) (19)
- Fat metabolism during exercise in patients with mitochondrial disease. (2009) (19)
- Characterization of two new dominant ClC‐1 channel mutations associated with myotonia (2003) (19)
- Effects of glucose infusion on hormone secretion and hepatic glucose production during heavy exercise. (1993) (19)
- Exercise Therapy in Spinobulbar Muscular Atrophy and Other Neuromuscular Disorders (2016) (19)
- Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase‐I deficiency (2018) (18)
- Limb girdle muscular dystrophy due to mutations in POMT2 (2017) (18)
- Reliability of the 2- and 6-minute walk tests in neuromuscular diseases. (2017) (18)
- Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency. (2017) (18)
- Aerobic Training in Patients with Congenital Myopathy (2016) (18)
- Glycogen Synthesis in Glycogenin 1–Deficient Patients: A Role for Glycogenin 2 in Muscle (2017) (17)
- Prevalence and phenotypes of congenital myopathy due to α‐actin 1 gene mutations (2016) (17)
- Muscle strength in myasthenia gravis (2014) (17)
- Muscle reflex and central motor control of neuroendocrine activity, glucose homeostasis and circulation during exercise. (2000) (17)
- A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans (2015) (17)
- Evaluation of inflammatory lesions over 2 years in facioscapulohumeral muscular dystrophy (2020) (16)
- Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) (2020) (16)
- Mechanisms of exertional fatigue in muscle glycogenoses (2012) (16)
- Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies (2019) (16)
- Mitochondrial dysfunction and risk of cancer (2015) (16)
- Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) (2020) (16)
- Protein-carbohydrate supplements improve muscle protein balance in muscular dystrophy patients after endurance exercise: a placebo-controlled crossover study. (2015) (15)
- Muscle phenotype in patients with myotonic dystrophy type 1 (2013) (15)
- Impaired energy metabolism and abnormal muscle histology in mut– methylmalonic aciduria (2005) (15)
- Effect of prior immobilization on muscular glucose clearance in resting and running rats. (1988) (15)
- EFFECTS OF IV GLUCOSE AND ORAL MEDIUM-CHAIN TRIGLYCERIDE IN PATIENTS WITH VLCAD DEFICIENCY (2007) (15)
- L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency (2018) (15)
- 216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15–17, 2016 Naarden, The Netherlands (2016) (14)
- Permanent muscle weakness in hypokalemic periodic paralysis (2020) (14)
- Phenotype and clinical course in a family with a new de novo Twinkle gene mutation (2008) (14)
- Muscle regeneration and inflammation in patients with facioscapulohumeral muscular dystrophy (2013) (14)
- Hydroxylated long-chain acylcarnitines are biomarkers of mitochondrial myopathy. (2019) (14)
- Adaptations in Mitochondrial Enzymatic Activity Occurs Independent of Genomic Dosage in Response to Aerobic Exercise Training and Deconditioning in Human Skeletal Muscle (2019) (14)
- Exercise therapy for muscle and lower motor neuron diseases (2019) (14)
- Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy (2020) (14)
- Treatment Opportunities in Patients With Metabolic Myopathies (2017) (14)
- SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy (2017) (14)
- Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency (2017) (14)
- A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>A associated with pure myopathy (2014) (13)
- Disease progression and outcome measures in spinobulbar muscular atrophy (2018) (13)
- No effect of triheptanoin on exercise performance in McArdle disease (2019) (13)
- Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging (2020) (13)
- Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy (2014) (13)
- Lack of IL-6 production during exercise in patients with mitochondrial myopathy (2001) (13)
- Role of metabolic feedback regulation in glucose production of running rats. (1988) (13)
- Effects of Sildenafil on Cerebrovascular Reactivity in Patients with Becker Muscular Dystrophy (2016) (13)
- Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study (2020) (13)
- Antimyostatin Treatment in Health and Disease: The Story of Great Expectations and Limited Success (2021) (13)
- Myopathic EMG findings and type II muscle fiber atrophy in patients with Lambert-Eaton myasthenic syndrome (2013) (12)
- Effect of Aerobic Exercise Training and Deconditioning on Oxidative Capacity and Muscle Mitochondrial Enzyme Machinery in Young and Elderly Individuals (2020) (12)
- Lecocytes mutation load declines with age in carriers of the m.3243A>G mutation: A 10‐year Prospective Cohort (2018) (12)
- Efficacy and Safety of Rozanolixizumab in Moderate to Severe Generalized Myasthenia Gravis (2020) (12)
- Long-term efficacy and safety of eculizumab in Japanese patients with generalized myasthenia gravis: A subgroup analysis of the REGAIN open-label extension study (2019) (12)
- 144th ENMC International Workshop: Outcome Measures in McArdle Disease, 29 September–1 November 2006, Naarden, The Netherlands (2007) (12)
- Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1 (2015) (12)
- Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment (2019) (12)
- Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy (2019) (11)
- Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2 (2013) (11)
- Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency (2017) (11)
- Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency (2018) (11)
- Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9 (2020) (11)
- Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy (2016) (11)
- Body weight‐supported training in Becker and limb girdle 2I muscular dystrophy (2016) (11)
- Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models (2020) (11)
- Differential glucose metabolism in mice and humans affected by McArdle disease. (2016) (11)
- Risk of cancer in relatives of patients with myotonic dystrophy: a population‐based cohort study (2014) (11)
- Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2 I : A Multinational Cross-Sectional Study (2014) (10)
- BAG3 myopathy is not always associated with cardiomyopathy (2018) (10)
- Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model (2019) (10)
- Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency (2021) (10)
- Screening for late‐onset Pompe disease in western Denmark (2018) (9)
- Progressive fat replacement of muscle contributes to the disease mechanism of patients with single, large-scale deletions of mitochondrial DNA (2018) (9)
- High-intensity training in patients with spinal and bulbar muscular atrophy (2019) (9)
- Mitochondrial Point Mutation m.3243A>G Associates With Lower Bone Mineral Density, Thinner Cortices, and Reduced Bone Strength: A Case‐Control Study (2017) (9)
- OxPhos Dysfunction Causes Hypermetabolism and Reduces Lifespan in Cells and in Patients with Mitochondrial Diseases (2022) (9)
- Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era (2021) (9)
- Lactate and Energy Metabolism During Exercise in Patients With Blocked Glycogenolysis (McArdle Disease). (2015) (9)
- 162nd ENMC International Workshop: Disorders of muscle lipid metabolism in adults 28–30 November 2008, Bussum, The Netherlands (2010) (9)
- A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity (2020) (9)
- Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression (2018) (8)
- Effect of Gender, Disease Duration and Treatment on Muscle Strength in Myasthenia Gravis (2016) (8)
- Exercise training in metabolic myopathies. (2016) (8)
- Effect of liver denervation on glucose production during running in guinea pigs. (1995) (8)
- Skeletal muscle metabolism during prolonged exercise in Pompe disease (2017) (8)
- A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy (2013) (8)
- High‐resolution Melting Facilitates Mutation Screening of PYGM in Patients with McArdle Disease (2009) (8)
- Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years (2015) (8)
- Protein Turnover and Cellular Stress in Mildly and Severely Affected Muscles from Patients with Limb Girdle Muscular Dystrophy Type 2I (2013) (8)
- Fatty Acid Mitochondrial Disorders (2010) (8)
- 1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15–16 November 2016, Evry, France (2017) (8)
- Human growth hormone stabilizes walking and improves strength in a patient with dominantly inherited calpainopathy (2017) (7)
- Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1 (2020) (7)
- Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy (2020) (7)
- Absence of p.R50X Pygm read-through in McArdle disease cellular models (2019) (7)
- Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype (2011) (7)
- Impaired lipolysis in propionic acidemia: A new metabolic myopathy? (2020) (7)
- Effect of anaesthetizing the region of the paraventricular hypothalamic nuclei on energy metabolism during exercise in the rat. (1994) (7)
- Preserved Capacity for Adaptations in Strength and Muscle Regulatory Factors in Elderly in Response to Resistance Exercise Training and Deconditioning (2020) (7)
- Expanding the phenotype of filamin-C-related myofibrillar myopathy (2019) (7)
- Congenital myopathies are mainly associated with a mild cardiac phenotype (2019) (7)
- LGMD2L with bone affection: Overlapping phenotype of dominant and recessive ANO5‐induced disease (2012) (7)
- Insulin resistance and increased muscle cytokine levels in patients with mitochondrial myopathy. (2014) (7)
- Influence of erythrocyte oxygenation and intravascular ATP on resting and exercising skeletal muscle blood flow in humans with mitochondrial myopathy. (2012) (7)
- Delayed diagnosis of oculopharyngeal muscular dystrophy in Denmark: from initial ptosis to genetic testing (2014) (7)
- Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy (2020) (7)
- Dysphagia is prevalent in patients with CPEO and single, large-scale deletions in mtDNA. (2017) (7)
- No need for ischemia in the forearm exercise test for McArdles disease (2000) (7)
- 160th ENMC International Workshop (First ENMC practical care workshop) Exercise training in patients with muscle diseases 20–22 June 2008, Naarden, The Netherlands (2013) (7)
- Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts (2018) (7)
- Muscle biopsy and MRI findings in ANO5‐related myopathy (2021) (6)
- A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood. (2015) (6)
- Muscle regeneration in mitochondrial myopathies. (2013) (6)
- Reply: Dominant LGMD2A: alternative diagnosis or hidden digenism? (2017) (6)
- Correlation between myasthenia gravis−activities of daily living (MG‐ADL) and quantitative myasthenia gravis (QMG) assessments of anti−acetylcholine receptor antibody−positive refractory generalized myasthenia gravis in the phase 3 regain study (2018) (6)
- The 2- and 6-Minute Walk Tests in Neuromuscular Diseases: Effect of HeartRate Correction on the Learning Effect (2017) (6)
- Treating MNGIE (2006) (6)
- Leber hereditary optic neuropathy due to a new ND1 mutation (2017) (6)
- Drilling for energy in mitochondrial disease. (2009) (5)
- OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases (2023) (5)
- Fatigue, physical activity and associated factors in 779 patients with myasthenia gravis (2021) (5)
- Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease (2022) (5)
- Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse. (2018) (5)
- Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants (2021) (5)
- Quantitative Muscle MRI as Outcome Measure in Patients With Becker Muscular Dystrophy—A 1-Year Follow-Up Study (2021) (5)
- A quantitative method to assess muscle edema using short TI inversion recovery MRI (2020) (5)
- Lactic acid accumulation is an advantage/disadvantage during muscle activity. (2006) (5)
- Fat oxidation is impaired during exercise in lipin-1 deficiency (2019) (5)
- Cardiac Outcomes in Adults With Mitochondrial Diseases. (2022) (5)
- Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report (2017) (5)
- Diagnostic challenges in combined multiple sclerosis and centronuclear myopathy (2000) (5)
- 211th ENMC International Workshop: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17–19 April 2015, Naarden, The Netherlands (2017) (5)
- Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues (2020) (5)
- Home‐based gait analysis as an exploratory endpoint during a multicenter phase 1 trial in limb girdle muscular dystrophy type R2 and facioscapulohumeral muscular dystrophy (2022) (5)
- Aerobic anti‐gravity exercise in patients with Charcot–Marie–Tooth disease types 1A and X: A pilot study (2017) (4)
- Physical activity in myotonic dystrophy type 1 (2020) (4)
- Aerobic training in myotonia congenita: Effect on myotonia and fitness (2017) (4)
- O.22 Dominant inheritance of limb girdle muscular dystrophy type 2A (2011) (4)
- Mitochondrial mutation m.3243A>G associates with insulin resistance in non-diabetic carriers (2019) (4)
- Depletion of ATP Limits Membrane Excitability of Skeletal Muscle by Increasing Both ClC1-Open Probability and Membrane Conductance (2020) (4)
- Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation. (2015) (4)
- Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants (2021) (4)
- Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation (2010) (4)
- Disorders of Voluntary Muscle: Metabolic myopathies: Defects of carbohydrate and lipid metabolism (2010) (4)
- Diabetes in Myotonic Dystrophy (2017) (4)
- Muscle contractility of leg muscles in patients with mitochondrial myopathies. (2019) (4)
- Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Authors' replies (2007) (4)
- G.P.290 Paraspinal fat infiltration in healthy adults with aging (2015) (4)
- Impaired fat oxidation during exercise in multiple acyl‐CoA dehydrogenase deficiency (2019) (4)
- Exercise Testing, Physical Training and Fatigue in Patients with Mitochondrial Myopathy Related to mtDNA Mutations (2021) (4)
- Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis (2020) (4)
- Late-onset MADD: a rare cause of cirrhosis and acute liver failure? (2020) (4)
- No effect of oral ketone ester supplementation on exercise capacity in patients with McArdle disease and healthy controls: A randomized placebo‐controlled cross‐over study (2022) (4)
- Muscle Strength and Aerobic Capacity in Patients with CIDP One Year after Participation in an Exercise Trial. (2019) (4)
- 233rd ENMC International Workshop: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15–17 September 2017 (2018) (4)
- Clinical and neurophysiological response to pharmacological treatment of DOK7 congenital myasthenia in an older patient (2015) (4)
- 251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands (2021) (3)
- No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross‐over trial (2022) (3)
- No effect of oral sucrose or IV glucose during exercise in phosphorylase b kinase deficiency (2020) (3)
- Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies (2021) (3)
- High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1 (2022) (3)
- NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy (2022) (3)
- Results of an open label feasibility study of sodium valproate in people with McArdle disease (2020) (3)
- Differential effects from parapyramidal region and rostral ventrolateral medulla mediated by substance P. (1999) (3)
- Moderate‐intensity aerobic exercise improves physical fitness in bethlem myopathy (2019) (3)
- NEO1 and NEO-EXT studies: Long-term safety and exploratory efficacy of repeat avalglucosidase alfa dosing for 5.5 years in late-onset Pompe disease patients (2020) (3)
- P.301Myo-Guide: A new artificial intelligence MRI-based tool to aid diagnosis of patients with muscular dystrophies (2019) (3)
- Altered somatosensory neurovascular response in patients with Becker muscular dystrophy (2018) (2)
- Contractile properties are impaired in congenital myopathies (2020) (2)
- P.16.8 Does endurance training and protein supplementation improve fitness in patients with Facioscapulohumeral Muscle Dystrophy (FSHD)? (2013) (2)
- Prolonged fasting‐induced hyperketosis, hypoglycaemia and impaired fat oxidation in child and adult patients with spinal muscular atrophy type II (2021) (2)
- DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency (2017) (2)
- No effect of resveratrol in patients with mitochondrial myopathy: A cross‐over randomized controlled trial (2021) (2)
- Cytokine genes as potential biomarkers for muscle weakness in OPMD. (2016) (2)
- Responsiveness of outcome measures in myotonic dystrophy type 1 (2020) (2)
- A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation (2020) (2)
- Against a role of lactic acid on the generation of the exercise pressor reflex (2003) (2)
- T.P.47 Bezafibrate does not improve fat oxidation in patients with disorders of fat metabolism; a double blind, randomized clinical trial (2012) (2)
- Limitations of muscle biopsy in Pompe disease (2013) (2)
- Myopathy can be a key phenotype of membrin (GOSR2) deficiency (2021) (2)
- Phase 1 Exploratory Efficacy of the Novel Enzyme Replacement Therapy NeoGAA in Treatment-Naïve and Alglucosidase Alfa-Treated Late-Onset Pompe Disease Patients (S38.006) (2016) (2)
- 264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021 (2022) (2)
- Episodic hyperCKaemia may be a feature of α‐methylacyl‐coenzyme A racemase deficiency (2020) (2)
- Exercise intolerance and myoglobinuria (2016) (2)
- Botulinum toxin treatment improves dysphagia in patients with oculopharyngeal muscular dystrophy and sporadic inclusion body myositis (2022) (2)
- Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis. (2020) (2)
- Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice. (2020) (2)
- Intrarater reliability and validity of outcome measures in myotonic dystrophy type 1 (2020) (2)
- SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy (2016) (2)
- Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study (2023) (1)
- G.P.166 Muscle strength relative to cross-sectional area in hypertrophic calf muscles of patients affected by limb girdle type 2I and Becker muscular dystrophies (2015) (1)
- Polymyositis following autologous haematopoietic stem cell transplantation (2016) (1)
- Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet: An International Survey in Patients with McArdle Disease (2023) (1)
- Causes of symptom dissatisfaction in patients with generalized myasthenia gravis (2021) (1)
- P3.60 Pompe disease in persons with unclassified Limb-girdle muscular dystrophy (2011) (1)
- P.180Paraspinal muscle affection in limb-girdle muscular dystrophy type 2I patients (2019) (1)
- Alterations in the supramolecular interactions of respiratory chain complexes and enhanced superoxide production by the cytochrome b Y278C mutation which causes a multisystem disorder (2012) (1)
- Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features (2022) (1)
- P.5.6 Aerobic training in patients with myopathy and hyperCKemia caused by anoctamin 5 deficiency (2013) (1)
- Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort (2021) (1)
- EP.54Assessment of trunk muscle strength in patients with muscular dystrophies using stationary and hand-held dynamometry: a test-retest reliability study (2019) (1)
- Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) (2020) (1)
- Progression or Not - A Small Natural History Study of Genetical Confirmed Congenital Myopathies. (2021) (1)
- Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) (2020) (1)
- Phase 1 Safety and Pharmacokinetics of the Novel Enzyme Replacement Therapy neoGAA in Treatment-Naïve and Alglucosidase Alfa-Treated Late-Onset Pompe Disease Patients (S38.005) (2016) (1)
- Tissue specific distribution of the 3243ARG mtDNA (2006) (1)
- G.P.134 High intensity training in patients with spinal and bulbar muscular atrophy (2015) (1)
- G.P.245 Exercise related muscle disorders: The EUROMAC Registry for McArdle disease and other rare glycogenolytic disorders (2014) (1)
- Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease—an MRI study (2021) (1)
- Patients With Becker Muscular Dystrophy Have Severe Paraspinal Muscle Involvement (2021) (1)
- P.5.7 Limb-girdle muscular dystrophy type 2E: Clinical, genetic and histopathological features of 27 European patients (2013) (1)
- Disorders of Muscle Glycogen Metabolism (2013) (1)
- FP.18 Modified ketogenic diet in patients with McArdle disease: A double-blind, placebo-controlled, cross-over study (2022) (1)
- G.P.292 Test–retest reliability of the 2- and 6-minute walk tests in patients with neuromuscular diseases (2015) (1)
- M.I.2 Metabolic assessments of muscle disease (2009) (1)
- P.356 Effects of botulinum toxin injections in the cricopharyngeal muscle of OPMD and IBM myopathies with dysphagia (2017) (1)
- G.P.96 High intensity training in patients with facioscapulohumeral muscular dystrophy (2015) (1)
- NEO1 AND NEO-EXT STUDIES: PHARMACODYNAMIC/EXPLORATORY BIOMARKER AND SAFETY ASSESSMENTS FOLLOWING REPEAT AVALGLUCOSIDASE ALFA DOSING FOR UP TO 4.5 YEARS IN PATIENTS WITH LATE-ONSET POMPE DISEASE (2019) (1)
- [Patient demographics and evaluation of examinations in a neuromuscular clinic over a three-year period]. (2005) (1)
- Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study (2017) (1)
- P.364 Autophagy impairment in muscle biopsies from debranching enzyme deficiency (GSDIII) patients: pinpointing novel therapeutic perspectives (2017) (1)
- Autophagy is affected in patients with hypokalemic periodic paralysis: an involvement in vacuolar myopathy? (2021) (1)
- E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019 (2021) (1)
- Impaired fat oxidation during exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency patients and effect of IV-glucose. (2019) (1)
- G.P.117 Sodium valproate for McArdle disease (glycogen storage disease type V – GSDV) (2015) (1)
- Muscle biopsies off-set normal cellular signaling in surrounding musculature (2013) (1)
- P5.47 No second wind phenomenon, but glucose improves exercise capacity in Phosphoglucomutase deficiency (2011) (1)
- G.P.320 Phenotypic heterogeneity of the c.919T>A FKRP gene mutation in humans and a mouse model (2014) (1)
- P.58No effect of resveratrol supplementation in patients with mitochondrial myopathy - a randomized, double-blind, placebo-controlled, cross-over study (2019) (1)
- Habitual Physical Activity in Patients with Myasthenia Gravis Assessed by Accelerometry and Questionnaire. (2021) (1)
- No effect of triheptanoin in patients with phosphofructokinase deficiency (2022) (1)
- The Pathophysiology of Exercise and Effect of Training in Mitochondrial Myopathies (2019) (1)
- Extreme Hypoxia Causing Brady-Arrythmias During Apnea in Elite Breath-Hold Divers (2021) (1)
- High prevalence of impaired glucose homeostasis and myopathy in a- and oligosymptomatic 3243A>G mtDNA mutation-positive subjects (2009) (1)
- Exercise Therapy in Spinobulbar Muscular Atrophy and Other Neuromuscular Disorders (2015) (1)
- Axial muscle involvement in patients with limb girdle muscular dystrophy type R9 (2022) (1)
- 265th ENMC International Workshop: Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22–24 April 2022, Hoofddorp, The Netherlands (2022) (1)
- P70 EUROMAC: Disease registry for McArdle disease and other pure muscle glycogenolytic disorders presenting with exercise intolerance (2014) (1)
- Bezafibrate Does Not Improve Fat Oxidation in Patients with Disorders of Fat Metabolism; a Double Blind, Randomized Clinical Trial (S05.006) (2013) (1)
- O12 Assessing muscle pathology by MRI in LGMD2I (2011) (1)
- Genetic subgroup learnings from MMPOWER-3 trial: Elamipretide improved six-minute walk test in individuals with mtDNA replisome disorders (2022) (1)
- P.434 ActiMyo home monitoring in adult patients with limb girdle muscular dystrophy type 2B and facioscapulohumeral muscular dystrophy in study ATYR 1940-C-004 (2017) (1)
- NEO1/NEO-EXT studies: Safety and exploratory efficacy of repeat avalglucosidase alfa dosing after up to 6 years in participants with late-onset pompe disease (LOPD) (2021) (1)
- Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study (2021) (1)
- DMD TREATMENT: ANIMAL MODELS P.211Myostatin inhibition and growth factor treatment of pre- and post-disease onset mdx mice does not improve the phenotype coherently (2018) (0)
- P3.3 Does muscle strength deteriorate over time in Spinal muscular atrophy type II and III? Fifteen years follow up study in 22 patients with SMA II and 9 patients with SMA III (2011) (0)
- G.P.353 Effect of treatment with grow factors on muscle pathology in the mdx mouse model of Duchenne muscular dystrophy (2015) (0)
- P.119Analysis of the structural and metabolic consequences of McArdle disease using the murine model (2019) (0)
- 2-52-09 Exercise-induced changes in the spinal cord glucose utilization (1997) (0)
- P5.43 Fat and sugar metabolism during exercise, with and without L-Carnitine supplementation, in patients with medium chain acyl-CoA-d (2011) (0)
- Correction to: Eculizumab improves fatigue in refractory generalized myasthenia gravis (2019) (0)
- P.261: Identification of sequence variants in eight genes associated with dystroglycanopathies using whole exome sequencing (2016) (0)
- NEO1 and NEO-EXT studies: Long-term safety of repeat avalglucosidase alfa dosing for 4.5 years in late-onset Pompe disease patients (2019) (0)
- G.P.7 PGM1 deficiency – A heterogeneous myopathy with opportunities for treatment (2015) (0)
- MUSCLE IMAGING – MRI (2020) (0)
- Limb Girdle Muscular Dystrophy Type 2L (Anoctamin 5 Deficiency): Cardiac Involvement and Characterization of the Skeletal Muscle Phenotype (S15.006) (2012) (0)
- P.357 The EUROMAC registry for rare glycogen storage diseases: preliminary report (2017) (0)
- MUSCLE IMAGING – MRI P.168 Broadening fibroadipose replacement pattern in patients with sarcoglycanopathies: towards whole body MRI approaches (2020) (0)
- P.120EUROMAC: A European registry for patients with McArdle disease and other very rare muscle glycogenoses (2019) (0)
- P.18.7 Endocrine function in patients with myotonic dystrophy type 1–9 year follow-up (2013) (0)
- The following letters are in response to the point:counterpoint series: Lactic acid accumulation is an advantage/disadvantage during muscle activity. Commentary (2006) (0)
- Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies (2022) (0)
- CONGENITAL MYOPATHIES: GENERAL AND RYR1 P.51Familial variation in phenotype in RYR1-related myalgia-rhabdomyolysis syndrome (2018) (0)
- P.17.17 McArdle disease with pronounced axial myopathy (2013) (0)
- O.5A new glycogen storage disorder caused by a dominant mutation in the glycogen myophosphorylase gene (PYGM) (2019) (0)
- Identification of novel intracellular differential spliced variants of MASP1 (2013) (0)
- [The complex clinical presentation of hereditary mitochondrial diseases]. (2014) (0)
- Remaining diagnostic issues and start of a treatment era for muscle diseases. (2020) (0)
- P.64 Application of exome sequencing technologies: A case study of patients with unexplained limb-girdle muscle weakness harbouring GAA mutations (2016) (0)
- Muscle contractility in spinobulbar muscular atrophy (2019) (0)
- G.P.16.08. Two novel mutations associated with muscle phosphoglycerate mutase (PGAM) deficiency (2008) (0)
- European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience (2019) (0)
- Mitochondrial DNA point mutation is associated with lower bone turnover markers (2016) (0)
- [Juvenile asymmetrical segmental spinal muscular atrophy]. (2002) (0)
- OTHER NMDs EP.356 The phenotypic heterogeneity of autosomal recessive desmin myopathies (2021) (0)
- P.03 Myosin dysregulation in nemaline myopathy (2022) (0)
- P.330Fibroadipose infiltration scores of specific muscles are influenced by disease duration in partial merosin deficiency (2019) (0)
- P70 A single in-frame deletion in the CAPN3 gene is linked to muscular dystrophy with a dominant pattern of inheritance (2012) (0)
- DUCHENNE MUSCULAR DYSTROPHY - GENETICS P.218Heart and skeletal muscle affection in female carriers of a dystrophin gene mutation (2018) (0)
- P.06 Investigating the effect of a home-based training program on oxidative capacity in patients with truncating genetic variants in titin (2022) (0)
- O.14B3GNT4 deficiency: a new α-dystroglycanopathy causing late-onset progressive brain atrophy and muscular dystrophy (2019) (0)
- Effects of Sildenafil on Cerebrovascular Reactivity in Patients with Becker Muscular Dystrophy (2016) (0)
- Post-exercise protein supplementation in muscular dystrophy 1 Protein-carbohydrate supplements improve muscle protein balance in 1 muscular dystrophy patients after endurance exercise : a placebo 2 controlled crossover study 3 (2014) (0)
- Differences in genetic defects and morphology of eye‐ and limb muscles in mitochondrial myopathy (2015) (0)
- Altered somatosensory neurovascular coupling in patients with becker muscular dystrophy (2013) (0)
- A quantitative method to assess muscle edema using short TI inversion recovery MRI (2019) (0)
- M.P.4.08 Are oxidative capacity and glycolysis affected in X-linked phosphorylase b kinase deficiency? (2007) (0)
- G.P.114 Exercise intolerance in Debrancher deficiency is caused by a block in skeletal muscle and liver glycogen breakdown (2012) (0)
- P.175 Global FKRP registry - the research database for limb girdle muscular dystrophy R9 (2I) (2022) (0)
- G.P.69 Structural muscle involvement in patients with chronic progressive external ophthalmoplegia assessed by quantitative MRI (2015) (0)
- T.P.36 Hepatocyte growth factor reverses atrophy by inducing protein synthesis in mice (2012) (0)
- Aerobic capacity and muscle strength are improved following aerobic and resistance exercise in patients treated with subcutaneous immunoglobulin for CIDP (2016) (0)
- MANOEUVRE Study Design: A Study of GYM329 (RO7204239) in Patients with Facioscapulohumeral Muscular Dystrophy (FSHD) (S2.010) (2023) (0)
- P.8.12 Mild phenotype in a Limb Girdle muscular dystrophy type 2I mouse model homozygous for the common L276I mutation (2013) (0)
- P.97 Clinical differences between ocular and generalized myasthenia gravis (2022) (0)
- Twelve-month functional change in Limb Girdle Muscular Dystrophy R9 / 2I (P5-8.010) (2023) (0)
- FP.06 Use of an exercise challenge system to define a universal proteomic signature of muscle injury in a diverse set of adults with inherited myopathy (2022) (0)
- SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES P.91Muscle imaging and function in patients with spinal and bulbar muscular atrophy (2018) (0)
- MUSCLE FUNCTION & HOMEOSTASIS / MOLECULAR THERAPEUTIC APPROACHES P.73 Depletion of ATP limits membrane excitability of skeletal muscle by increasing both ClC1-open probability and membrane conductance (2020) (0)
- G.P.112 Molecular, morphological and physiological studies in a mouse model of McArdle disease: Similarities to the human disease (2015) (0)
- Reply from the editorialists (2020) (0)
- NEO1 and NEO-EXT Studies: Long-Term Safety of Repeat Avalglucosidase Alfa Dosing for 4.5 Years in Patients With Late-Onset Pompe Disease (P5.4-003) (2019) (0)
- Abstract 14674: High Prevalence of Cardiac Involvement in Patients With Myotonic Dystrophy Type 1 - A Cross-Sectional Cohort Study (2013) (0)
- M.I.1 Exercise treatment in muscle disorders (2015) (0)
- Long-term Efficacy and Safety of Symptom-driven Cyclic Rozanolixizumab Treatment in Patients with Generalized Myasthenia Gravis: A Pooled Analysis of a Phase 3 Study and Two Open-label Extension Studies (P1-5.012) (2023) (0)
- Anoctamin-5 related muscle disease: Clinical and genetic findings in a large European cohort. (2023) (0)
- Oculopharyngeal Muscular Dystrophy: Phenotypic and Genotypic Evaluation (2011) (0)
- P.173 Preliminary natural history quantitative MRI data in lower limb muscle and heart of patients with limb-girdle muscular dystrophy type R9 (2022) (0)
- muscular dystrophy Severe paraspinal muscle involvement in facioscapulohumeral (0)
- METABOLIC MYOPATHIES I P.268Reduced skeletal muscle fat oxidation during exercise in an adult with LPIN1-deficiency (2018) (0)
- Autophagy is affected in patients with hypokalemic periodic paralysis: an involvement in vacuolar myopathy? (2021) (0)
- β‐Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy (2022) (0)
- Response letter to "Cardiac involvement in myotonic dystrophy type 1--do not forget the loop recorder!". (2013) (0)
- Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model (2019) (0)
- P.380 New advances in McArdle disease: Characterization of the p.R50X knock-in mouse model and evaluation of new therapeutic approaches (2016) (0)
- Metabolic assessment in children with neuromuscular disorders shows risk of liver enlargement, steatosis and fibrosis (2022) (0)
- Strong correlation between 6 minute walk distance (6MWD) and hamstring average fat fraction, r = −.79 (p<0.01). (2014) (0)
- Prediction of cardiac outcomes in 600 adult patients with mitochondrial diseases (2023) (0)
- Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness (2020) (0)
- EP.07Impaired lipolysis in propionic acidemia - a case story (2019) (0)
- P2987 | BEDSIDE Cardiac fibrosis in myotonic dystrophy type 1; an early marker of cardiac involvement (2013) (0)
- P4.42 Muscle protein synthesis in patients with Dystrophia Myotonica type 1 (2011) (0)
- M.P.3.09 Lactate is fuel for working muscle in patients with mitochondrial myopathy (2007) (0)
- D03 Global FKRP registry (2017) (0)
- A placebo-controlled study to evaluate the safety, tolerability, and preliminary efficacy of BVS857 in patients with spinal and bulbar muscular atrophy (S13.003) (2017) (0)
- P.30Reliability of balance, function, and muscle strength measures in myotonic dystrophy type 1 (2019) (0)
- P.74 Using high-field magnetic resonance spectroscopy to measure muscle glycogen in patients with McArdle disease (2022) (0)
- P.122Feasibility open label trial shows no effect of sodium valproate for McArdle disease (2019) (0)
- Effects of rhythmic auditory stimulation on walking during the 6-minute walk test in patients with generalised Myasthenia Gravis (2021) (0)
- MITOCHONDRIAL DISEASES EP.213 Plasma lactate responses during and after submaximal handgrip exercise are not diagnostically helpful in mitochondrial myopathy (2021) (0)
- Mitochondrial DNA point mutation is associated with lower bone mineral density and altered bone structure in a matched case-control study (2015) (0)
- [Mitochondrial diseases]. (2003) (0)
- Data from: Study of the accuracy of a machine learning muscle MRI-based tool for diagnosis the of muscular dystrophies (2020) (0)
- Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy (2016) (0)
- Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment? (2022) (0)
- P.69NEO1 and NEO-EXT studies: exploratory efficacy of repeat avalglucosidase alfa dosing for up to 5 years in participants with late-onset Pompe disease (LOPD) (2019) (0)
- Energy metabolism during exercise in patients with β‐enolase deficiency (GSDXIII) (2021) (0)
- Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children (2021) (0)
- AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE P.03 NEO1/NEO-EXT studies: Safety and exploratory efficacy of repeat avalglucosidase alfa dosing after up to 6 years in late-onset Pompe disease (LOPD) (2020) (0)
- CHANNELOPATHIES AND RELATED DISORDERS EP.226 Muscle fat fraction, cross-sectional area and contractility in patient with skeletal muscle sodium channel disorders (2021) (0)
- P.306Multicentric MRI study in a cohort of FSHD2 patients: pattern definition and differences between FSHD1 and FSHD2 (2019) (0)
- Plasma lactate responses during and after submaximal handgrip exercise are not diagnostically helpful in mitochondrial myopathy. (2021) (0)
- Design of REACH: Phase 3 Randomized, Double-Blind, Placebo-Controlled, 48-Week Study of the Efficacy and Safety of Losmapimod in FSHD (P6-8.007) (2023) (0)
- G.P.80 Non-sense mutation in exon two of the dystrophin gene results in mild Becker muscular dystrophy with generalized muscle hypertrophy (2012) (0)
- Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy (2022) (0)
- G.P.346 Muscle imaging in STIM1-mutated tubular aggregate myopathy patients (2015) (0)
- LGMD EP.193 Prospective clinical trial readiness in LGMDR9 FKRP-related muscular dystrophy: a GRASP consortium study (2021) (0)
- Limb-Girdle Muscular Dystrophy Type 2E: Clinical, Genetic and Histopathological Features of 27 European Patients (P07.031) (2013) (0)
- Efficacy of Rozanolixizumab in Generalized Myasthenia Gravis: Subgroup Analyses from the Randomized Phase 3 MycarinG Study (S5.007) (2023) (0)
- P.389Global FKRP registry (2019) (0)
- METABOLIC MYOPATHIES EP.206 No effect of oral ketone ester supplementation on exercise capacity in patients with McArdle disease: a randomized placebo-controlled cross-over study (2021) (0)
- Københavns Universitet Adaptations in mitochondrial enzymatic activity occurs independent of genomic dosage in response to aerobic exercise training and deconditioning in human skeletal muscle (2019) (0)
- LIMB-GIRDLE MUSCULAR DYSTROPHY I P.4Axial muscular affection in patients with LGMD2L (2018) (0)
- G.P.56 Reduced fatty acid oxidation capacity during exercise in patients with carnitine transporter deficiency (2015) (0)
- G.P.76 A third case of congenital myasthenic syndrome caused by mutations in SCN4A (2015) (0)
- Exercise therapy in muscle disease: Perspectives for Pompe disease (2010) (0)
- P.81 Nutritional status and bone health in pediatric patients with low skeletal muscle mass (2022) (0)
- G.P.55 Acylcarnitine profiles in mitochondrial myopathies (2015) (0)
- METABOLIC MYOPATHIES I P.272No effect of triheptanoin on exercise performance in patients with McArdle disease - a double blind placebo-controlled crossover study (2018) (0)
- G.P.115 Recurrent myoglobinuria and deranged acyl-carnitines due to mutation of the COII gene of mtDNA (2012) (0)
- Remodel mitochondria and get energized (2018) (0)
- P.365 Glycemic control during fasting in patients with low skeletal muscle mass (2017) (0)
- POMPE DISEASE AND METABOLIC DISORDERS P.64Deep clinic and histopathologic phenotyping in a cohort of 17 patients with GYG1-related polyglucosan body myopathy (2019) (0)
- P2.22 Quantitative MRI in LGMD2I; a longitudinal study (2011) (0)
- Clinical heterogeneity and phenotype / genotype findings in 5 families with ITGYG 1 IT deficiency (2019) (0)
- Syddansk Universitet Mitochondrial point mutation m . 3243 A > G associates with lower bone mineral density , thinner cortices and reduced bone strength A case-control study (2017) (0)
- Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness (2018) (0)
- Differential effects from parapyramidal region and rostral ventrolateral medulla mediated by substance P. (1999) (0)
- Limb Girdle Muscular Dystrophy Due to Calpainopathy Also Exists in a Dominantly Inherited Form (S36.002) (2016) (0)
- MYASTHENIA & RELATED DISORDERS P.37 Autophagy affected in patients with hypokalemic periodic paralysis (2020) (0)
- P4.26 Assessing muscle pathology by MRI in LGMD2I (2010) (0)
- IMAGING EP.332 Patients with McArdle disease have increased fat replacement of paraspinal muscles on MRI: a European multicenter study (2021) (0)
- impaired skeletal muscle oxygenation A modular NIRS system for clinical measurement of (2015) (0)
- [Picture of the month. Muscular dystrophy]. (2000) (0)
- EP.11Impaired fat oxidation during exercise in long-chain acyl-CoA dehydrogenase deficiency patients and effect of IV-glucose (2019) (0)
- G.P.14.06 There is no correlation between muscle strength and myotonia in patients with myotonic dystrophy type 1 (2007) (0)
- Muscle MRI in McArdle Disease (2022) (0)
- P.96 Clinical characteristics of patients with seronegative myasthenia gravis (2022) (0)
- FSHD / OPMD / EDMD / DMI P.360Longitudinal MR evaluation of inflammatory lesions in muscle of patients with facioscapulohumeral muscular dystrophy (2018) (0)
- METABOLIC MYOPATHIES EP.204 No effect of resveratrol on exercise capacity in patients with fatty acid oxidation disorders (2021) (0)
- P.375Does rhythmic auditory stimulation influence walking speed in the 6-minute walk test in patients with myasthenia gravis? (2019) (0)
- Alternate resistance and endurance training improves muscle strength and aerobic capacity in patients with chronic inflammatory demyelinating polyneuropathy (P4.142) (2017) (0)
- Response (2013) (0)
- Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment (2019) (0)
- P.141 Manoeuvre study design: A study of GYM329 (RO7204239) in patients with facioscapulohumeral muscular dystrophy (FSHD) (2022) (0)
- G.P.8.01 Genotype–phenotype study of cardiomyopathy in patients with LGMD2 and BMD (2007) (0)
- [Fatal cachexia caused by mitochondrial neuro-gastro-intestinal encephalomyopathy]. (2019) (0)
- LGMD EP.178 Global FKRP Registry - the research database for limb girdle muscular dystrophy R9 (2I) (2021) (0)
- G.P.42 Protein turnover and cellular stress in mildly and severely affected muscles from patients with limb girdle muscular dystrophy type 2I (2012) (0)
- A possible role of MAP-1 in skeletal muscle regeneration (2012) (0)
- P.497 Axial myopathy in patients with neuromuscular diseases (2017) (0)
- P.169 Aerobic anti-gravity exercise in patients with Charcot-Marie-Tooth disease. Types: a pilot study (2017) (0)
- P.299Disease progression using quantitative MRI outcome measures in limb girdle muscular dystrophy 2L (2019) (0)
- LIMB GIRDLE MUSCULAR DYSTROPHIES P.149 ANO5-related myopathy and muscle inflammation assessed by biopsy and MRI (2020) (0)
- SMA - TREATMENT EP.275 Pharmacokinetics and safety of treatment with paracetamol in children and adults with spinal muscular atrophy (2021) (0)
- G.P.291 Assessment of the 2- and 6-minute walk test for patients with neuromuscular diseases (2015) (0)
- FP.19 Quantification of glycogen distribution in late-onset Pompe patients using 7 Tesla C13 NMR spectroscopy (2022) (0)
- Muscle fat replacement and contractility in patients with skeletal muscle sodium channel disorders (2023) (0)
- [Diagnosis of muscular disease]. (2000) (0)
- P.233 Permanent muscle weakness in hypokalemic periodic paralysis (2017) (0)
- ACTIVATION OF THE BRANCHED CHAIN KETO ACID DEHYDROGENASE COMPLEX IN MCARDLE'S PATIENTS 1302 (1997) (0)
- Growth Factors Do Not Improve Muscle Function in Young or Adult mdx Mice (2022) (0)
- LGMD EP.188 Elevation of fast but not slow muscle fiber injury biomarkers after exercise in Becker and LGMDR9 muscular dystrophies (2021) (0)
- P.277Muscle contractility in spinobulbar muscular atrophy (2019) (0)
- Abstract 13633: High Prevalence of Cardiac Fibrosis in Patients With Myotonic Dystrophy Type 1 (2013) (0)
- P.136 Design of Reach: Phase 3 randomized, double-blind, placebo-controlled, 48-week study of the efficacy and safety of losmapimod in FSHD (2022) (0)
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What Schools Are Affiliated With John Vissing?
John Vissing is affiliated with the following schools:
