Zobrazeno 1 - 10
of 673
pro vyhledávání: '"John, Vissing"'
Autor:
Thomas Kjeld, Anders Brenøe Isbrand, Henrik Christian Arendrup, Jens Højberg, Jacob Bejder, Thomas O. Krag, John Vissing, Lars Poulsen Tolbod, Johannes Hendrik Harms, Lars Christian Gormsen, Dan Fuglø, Egon Godthaab Hansen
Publikováno v:
Frontiers in Physiology, Vol 15 (2024)
IntroductionElite breath-hold divers (BHD) possess several oxygen conserving adaptations to endure long dives similar to diving mammals. During dives, Bottlenose Dolphins may increase the alveolar ventilation (VA) to perfusion (Q) ratio to increase a
Externí odkaz:
https://doaj.org/article/a8378ed0ea3240d09d721ee1012dd86c
Autor:
Thomas Kjeld, Thomas O. Krag, Anders Brenøe, Ann Merete Møller, Henrik Christian Arendrup, Jens Højberg, Dan Fuglø, Søren Hancke, Lars Poulsen Tolbod, Lars Christian Gormsen, John Vissing, Egon Godthaab Hansen
Publikováno v:
Frontiers in Physiology, Vol 15 (2024)
IntroductionElite breath-hold divers (BHD) enduring apneas of more than 5 min are characterized by tolerance to arterial blood oxygen levels of 4.3 kPa and low oxygen-consumption in their hearts and skeletal muscles, similar to adult seals. Adult sea
Externí odkaz:
https://doaj.org/article/b88dc9a9ef814fdbbbf814af038ea936
Autor:
Walaa Karazi, Renata S. Scalco, Mads G. Stemmerik, Nicoline Løkken, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebecca Trost, Sabrina Sacconi, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing, Nicol C. Voermans, EUROMAC Consortium
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background The European registry for individuals with GSD5 and other muscle glycogenosis (EUROMAC) was launched to register rare muscle glycogenosis in Europe, to facilitate recruitment for research trials and to learn about the phenotypes a
Externí odkaz:
https://doaj.org/article/36d94750141a4f249b7874ba6c6e46e8
Autor:
Jonas Jalili Pedersen, Mads Godtfeldt Stemmerik, Laura Nørager Jacobsen, Sofie Vinther Skriver, Gustav Rhode Wilms, Morten Duno, John Vissing
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Skeletal muscle sodium channel disorders give rise to episodic symptoms such as myotonia and/or periodic paralysis. Chronic symptoms with permanent weakness are not considered characteristic of the phenotypes. Muscle fat replacement represen
Externí odkaz:
https://doaj.org/article/87d0d1d435314d3bad829fcf345cfba3
Autor:
Gabriel Sturm, Kalpita R. Karan, Anna S. Monzel, Balaji Santhanam, Tanja Taivassalo, Céline Bris, Sarah A. Ware, Marissa Cross, Atif Towheed, Albert Higgins-Chen, Meagan J. McManus, Andres Cardenas, Jue Lin, Elissa S. Epel, Shamima Rahman, John Vissing, Bruno Grassi, Morgan Levine, Steve Horvath, Ronald G. Haller, Guy Lenaers, Douglas C. Wallace, Marie-Pierre St-Onge, Saeed Tavazoie, Vincent Procaccio, Brett A. Kaufman, Erin L. Seifert, Michio Hirano, Martin Picard
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-22 (2023)
A meta-analysis of 17 cohorts of mitochondrial disease patients reveals that OxPhos defects are associated with signs of hypermetabolism. Experiments in patient-derived fibroblast show that mitochondrial OxPhos defects trigger hypermetabolism in a ce
Externí odkaz:
https://doaj.org/article/8f3a6949c7834f1f9cf472f8feac04b2
Autor:
Natasha Ranu, Jenni Laitila, Hannah F. Dugdale, Jennifer Mariano, Justin S. Kolb, Carina Wallgren-Pettersson, Nanna Witting, John Vissing, Juan Jesus Vilchez, Chiara Fiorillo, Edmar Zanoteli, Mari Auranen, Manu Jokela, Giorgio Tasca, Kristl G. Claeys, Nicol C. Voermans, Johanna Palmio, Sanna Huovinen, Maurizio Moggio, Thomas Nyegaard Beck, Aikaterini Kontrogianni-Konstantopoulos, Henk Granzier, Julien Ochala
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-14 (2022)
Abstract Nemaline myopathy (NM) is one of the most common non-dystrophic genetic muscle disorders. NM is often associated with mutations in the NEB gene. Even though the exact NEB-NM pathophysiological mechanisms remain unclear, histological analyses
Externí odkaz:
https://doaj.org/article/e5ee5a8d011d4228bc2e2b2882c85e90
Autor:
Jonas Jalili Pedersen, Morten Duno, Flemming Wibrand, Christian Hammer, Thomas Krag, John Vissing
Publikováno v:
JIMD Reports, Vol 63, Iss 6, Pp 540-545 (2022)
Abstract Deficiency of the enzyme β‐galactosidase due to variants in the GLB1‐gene is associated with metabolic disorders: Morquio B and GM1‐gangliosidosis. Here, we report a case compound heterozygous for variants in the GLB1‐gene and a sev
Externí odkaz:
https://doaj.org/article/30099a06efa94e3a9c4050207216895a
Autor:
Astrid Emilie Buch, Olimpia Musumeci, Ralph Wigley, Mads Peter Godtfeldt Stemmerik, Anne‐Sofie Vibæk Eisum, Karen Lindhardt Madsen, Nicolai Preisler, David Hilton‐Jones, Ros Quinlivan, Antonio Toscano, John Vissing
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 60-66 (2021)
Abstract Aim To investigate the in vivo skeletal muscle metabolism in patients with β‐enolase deficiency (GSDXIII) during exercise, and the effect of glucose infusion. Methods Three patients with GSDXIII and 10 healthy controls performed a nonisch
Externí odkaz:
https://doaj.org/article/8313443dd69843c1baabfa14bfbebf34
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-16 (2021)
Abstract Hypokalemic periodic paralysis is an autosomal dominant, rare disorder caused by variants in the genes for voltage-gated calcium channel CaV1.1 (CACNA1S) and NaV1.4 (SCN4A). Patients with hypokalemic periodic paralysis may suffer from period
Externí odkaz:
https://doaj.org/article/c480e759a3094770aed0d31673dadfcb
Autor:
Nicoline Løkken, Nicol C. Voermans, Linda K. Andersen, Walaa Karazi, Stacey L. Reason, Heidi Zweers, Gustav Wilms, Alfredo Santalla, Edward Susanibar, Alejandro Lucia, John Vissing
Publikováno v:
Nutrients, Vol 15, Iss 4, p 843 (2023)
The low-carbohydrate ketogenic diet (LCKD) has attracted increased attention in recent years as a potential treatment option for individuals with McArdle disease (glycogen storage disease type V), and despite the absence of strong scientific evidence
Externí odkaz:
https://doaj.org/article/83a661f2c0684702bb0ab02089bbaf1c