Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Flemming Wibrand"'
Autor:
Bente Kiens, Lotte Risom, Frank B Thøgersen, Tina D. Jeppesen, Andreas M. Fritzen, Christoffer Rasmus Vissing, Thomas Krag, Louise D. Høeg, Flemming Wibrand, Morten Duno, Kasper Thybo, Cristina Ruiz-Ruiz, John Vissing
Publikováno v:
Cells
Volume 8
Issue 3
Fritzen, A M, Thøgersen, F B, Thybo, K, Vissing, C R, Krag, T O, Ruiz-Ruiz, C, Risom, L, Wibrand, F, Høeg, L D, Kiens, B, Duno, M, Vissing, J & Jeppesen, T D 2019, ' Adaptations in mitochondrial enzymatic activity occurs independent of genomic dosage in response to aerobic exercise training and deconditioning in human skeletal muscle ', Cells, vol. 8, no. 3, 237 . https://doi.org/10.3390/cells8030237
Cells, Vol 8, Iss 3, p 237 (2019)
Volume 8
Issue 3
Fritzen, A M, Thøgersen, F B, Thybo, K, Vissing, C R, Krag, T O, Ruiz-Ruiz, C, Risom, L, Wibrand, F, Høeg, L D, Kiens, B, Duno, M, Vissing, J & Jeppesen, T D 2019, ' Adaptations in mitochondrial enzymatic activity occurs independent of genomic dosage in response to aerobic exercise training and deconditioning in human skeletal muscle ', Cells, vol. 8, no. 3, 237 . https://doi.org/10.3390/cells8030237
Cells, Vol 8, Iss 3, p 237 (2019)
Mitochondrial DNA (mtDNA) replication is thought to be an integral part of exercise-training-induced mitochondrial adaptations. Thus, mtDNA level is often used as an index of mitochondrial adaptations in training studies. We investigated the hypothes
Publikováno v:
Journal of Neurology. 254:29-37
Clinical phenotypes of persons with mitochondrial DNA (mtDNA) mutations vary considerably. Therefore, diagnosing mitochondrial myopathy (MM) patients can be challenging and warrants diagnostic guidelines. (31)phosphorous magnetic resonance spectrosco
Publikováno v:
Neurology. 65:931-933
The authors report a 27-year-old man with B12-responsive mut- methylmalonic aciduria associated with pure muscle symptoms. Two mutations were found in the methylmalonyl-CoA mutase gene. An exercise test showed a reduced maximal workload and reduced o
Autor:
Flemming Wibrand, Tina D. Jeppesen, Jabin Rafiq, Henning Andersen, Lotte Risom, John Vissing, Johannes Jakobsen, Thomas Krag, Morten Duno
Publikováno v:
Jeppesen, T D, Duno, M, Risom, L, Wibrand, F, Rafiq, J, Krag, T, Jakobsen, J, Andersen, H & Vissing, J 2014, ' A novel de novo mutation of the mitochondrial tRNA(lys) gene mt.8340G >A associated with pure myopathy ', Neuromuscular Disorders, vol. 24, no. 2, pp. 162-6 . https://doi.org/10.1016/j.nmd.2013.08.004
Most patients with mutations in the tRNA(lys) gene (MTTK) present with symptoms from the central nervous system (CNS). We describe a 41-year-old woman with pure myopathy associated with a novel de novo mtDNA mutation, mt.8340G>A, which was heteroplas
Autor:
Flemming, Wibrand, Tina D, Jeppesen, Anja L, Frederiksen, David B, Olsen, Morten, Duno, Marianne, Schwartz, John, Vissing
Publikováno v:
Musclenerve. 41(5)
We evaluated the diagnostic value of respiratory chain (RC) enzyme analysis of muscle in adult patients with mitochondrial myopathy (MM). RC enzyme activity was measured in muscle biopsies from 39 patients who carry either the 3243AG mutation, other
Autor:
Oddmar Faeroe, Marianne Schwartz, Pernille L. Larsen, Elsebet Ostergaard, Ernst Christensen, Flemming Wibrand, Nicolina Sørensen, John Vissing, Morten Duno, Flemming Juul Hansen, Sigurdur Thorgrimsson
Publikováno v:
Brain : a journal of neurology. 130(Pt 3)
We have identified 12 patients with autosomal recessive mitochondrial encephalomyopathy with elevated methylmalonic acid. The disorder has a high incidence of 1 in 1700 in the Faroe Islands due to a founder effect, and a carrier frequency of 1 in 33.
Autor:
David B. Olsen, Morten Duno, Marianne Schwartz, Flemming Wibrand, Simon Hauerslev, John Vissing, Tina D. Jeppesen, Thomas Krag
Publikováno v:
Brain : a journal of neurology. 129(Pt 12)
Exercise intolerance is a prominent symptom in patients with mitochondrial myopathy (MM), but it is still unsettled whether exercise training is safe and beneficial for patients with MM. To address this, we studied the effect of 12 weeks cycle traini
Autor:
Else R. Danielsen, Flemming Wibrand, Marianne Schwartz, Tina D. Jeppesen, Klaus Marius Hansen, John Vissing
Publikováno v:
Journal of the neurological sciences. 214(1-2)
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) are usually associated with the common 3243A-->G mutation of mtDNA. Onset of stroke-like episodes usually occurs before age 30. We report a patient with late onset MELAS
Autor:
Morten Duno, J. Vissing, Flemming Wibrand, K. Ravn, Else R. Danielsen, Ron A. Wevers, Marianne Schwartz
Publikováno v:
Neurology, 59, 926-9
Neurology, 59, 6, pp. 926-9
Neurology, 59, 6, pp. 926-9
Item does not contain fulltext Two sisters developed gastrointestinal malabsorption with pain and unsteady gait due to polyneuropathy at age 15. Both had ophthalmoplegia, neurogenic EMG, and COX-negative muscle fibers. One patient had low muscle comp
Autor:
Marianne Schwartz, Flemming Wibrand, Tina D. Jeppesen, David B. Olsen, Anja Lisbeth Frederiksen, John Vissing
Publikováno v:
Archives of Neurology. 63:1701
Background Mitochondrial disorders are generally not associated with a clear phenotype-genotype relationship, which complicates the understanding of the disease and genetic counseling. Objective To investigate the relationship between the muscle and