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Lecocytes mutation load declines with age in carriers of the m.3243A>G mutation: A 10‐year Prospective Cohort.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 4, p. 925, doi. 10.1111/cge.13201
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- Publication type:
- Article
European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.
- Published in:
- European Journal of Neurology, 2017, v. 24, n. 6, p. 768, doi. 10.1111/ene.13285
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- Publication type:
- Article
Prevalence of migraine in persons with the 3243A>G mutation in mitochondrial DNA.
- Published in:
- European Journal of Neurology, 2016, v. 23, n. 1, p. 175, doi. 10.1111/ene.12832
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- Publication type:
- Article
Endocrine function over time in patients with myotonic dystrophy type 1.
- Published in:
- European Journal of Neurology, 2015, v. 22, n. 1, p. 116, doi. 10.1111/ene.12542
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- Publication type:
- Article
Risk of cancer in relatives of patients with myotonic dystrophy: a population-based cohort study.
- Published in:
- European Journal of Neurology, 2014, v. 21, n. 9, p. 1192, doi. 10.1111/ene.12466
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- Publication type:
- Article
EFNS review on the role of muscle biopsy in the investigation of myalgia.
- Published in:
- European Journal of Neurology, 2013, v. 20, n. 7, p. 997, doi. 10.1111/ene.12174
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- Publication type:
- Article
Short- and long-term effects of endurance training in patients with mitochondrial myopathy.
- Published in:
- European Journal of Neurology, 2009, v. 16, n. 12, p. 1336, doi. 10.1111/j.1468-1331.2009.02660.x
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- Publication type:
- Article
No muscle involvement in myoclonus-dystonia caused by ℇ-sarcoglycan gene mutations.
- Published in:
- European Journal of Neurology, 2008, v. 15, n. 5, p. 525, doi. 10.1111/j.1468-1331.2008.02116.x
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- Publication type:
- Article
Diagnostic challenges in combined multiple sclerosis and centronuclear myopathy.
- Published in:
- European Journal of Neurology, 2000, v. 7, n. 5, p. 567, doi. 10.1046/j.1468-1331.2000.t01-1-00105.x
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- Publication type:
- Article
Patients with medium-chain acyl-coenzyme a dehydrogenase deficiency have impaired oxidation of fat during exercise but no effect of L-carnitine supplementation.
- Published in:
- 2013
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- Publication type:
- Journal Article
Visual impairment in anti-GQ1b positive Miller Fisher syndrome.
- Published in:
- Acta Neurologica Scandinavica, 2001, v. 103, n. 4, p. 259, doi. 10.1034/j.1600-0404.2001.103004259.x
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- Publication type:
- Article
Mitochondrial dysfunction and risk of cancer.
- Published in:
- British Journal of Cancer, 2015, v. 112, n. 6, p. 1134, doi. 10.1038/bjc.2015.66
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- Publication type:
- Article
Mitochondrial dysfunction and risk of cancer.
- Published in:
- 2015
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- Publication type:
- journal article
Aerobic conditioning: An effective therapy in McArdle's disease.
- Published in:
- 2006
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- Publication type:
- Journal Article
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.
- Published in:
- 2006
- By:
- Publication type:
- Journal Article
Aerobic training in patients with myotonic dystrophy type 1.
- Published in:
- 2005
- By:
- Publication type:
- Journal Article
Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.
- Published in:
- 2005
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- Publication type:
- Journal Article
Fuel utilization in patients with very long-chain acyl-CoA dehydrogenase deficiency.
- Published in:
- 2004
- By:
- Publication type:
- Journal Article
Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Botulinum toxin treatment improves dysphagia in patients with oculopharyngeal muscular dystrophy and sporadic inclusion body myositis.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 8, p. 4154, doi. 10.1007/s00415-022-11028-8
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- Publication type:
- Article
Endocrine function in 97 patients with myotonic dystrophy type 1.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 5, p. 912, doi. 10.1007/s00415-011-6277-5
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- Publication type:
- Article
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis‐myalgia syndrome.
- Published in:
- Acta Neurologica Scandinavica, 2018, v. 137, n. 5, p. 452, doi. 10.1111/ane.12885
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- Publication type:
- Article
Screening for late-onset Pompe disease in western Denmark.
- Published in:
- Acta Neurologica Scandinavica, 2018, v. 137, n. 1, p. 85, doi. 10.1111/ane.12811
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- Publication type:
- Article
Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy.
- Published in:
- Acta Neurologica Scandinavica, 2014, v. 130, n. 2, p. 125, doi. 10.1111/ane.12244
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- Publication type:
- Article
Muscle strength in myasthenia gravis.
- Published in:
- Acta Neurologica Scandinavica, 2014, v. 129, n. 6, p. 367, doi. 10.1111/ane.12193
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- Publication type:
- Article
Muscle regeneration and inflammation in patients with facioscapulohumeral muscular dystrophy.
- Published in:
- Acta Neurologica Scandinavica, 2013, v. 128, n. 3, p. 194, doi. 10.1111/ane.12109
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- Publication type:
- Article
Open-Label Trial of Anti-TNF-α in Dermato- and Polymyositis Treated Concomitantly with Methotrexate.
- Published in:
- European Neurology, 2008, v. 59, n. 3/4, p. 159, doi. 10.1159/000114036
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- Publication type:
- Article
Episodic hyperCKaemia may be a feature of α‐methylacyl‐coenzyme A racemase deficiency.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 2, p. 729, doi. 10.1111/ene.14588
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- Publication type:
- Article
Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging.
- Published in:
- European Journal of Neurology, 2020, v. 27, n. 12, p. 2604, doi. 10.1111/ene.14446
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- Publication type:
- Article
Lactate production and clearance in exercise. Effects of training. A mini-review.
- Published in:
- Scandinavian Journal of Medicine & Science in Sports, 1998, v. 8, n. 3, p. 127, doi. 10.1111/j.1600-0838.1998.tb00181.x
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- Publication type:
- Article
Fatigue in patients with spinal muscular atrophy type II and congenital myopathies: evaluation of the fatigue severity scale.
- Published in:
- Quality of Life Research, 2014, v. 23, n. 5, p. 1479, doi. 10.1007/s11136-013-0565-8
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- Publication type:
- Article
Muscle phosphoglycerate mutase deficiency with tubular aggregates: effect of dantrolene.
- Published in:
- 1999
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- Publication type:
- journal article
P.057 Achievement of minimal symptom expression in acetylcholine receptor antibody-positive participants treated with efgartigimod in ADAPT/ADAPT+.
- Published in:
- 2024
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- Publication type:
- Abstract