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Contractile properties are impaired in congenital myopathies

Autor: Eisum, Anne-Sofie Vibæk, Fornander, Freja, Poulsen, Nanna Scharff, Andersen, Annarita Ghosh, Dahlqvist, Julia, Andersen, Linda Kahr, Witting, Nanna, Vissing, John

Publikováno v: In Neuromuscular Disorders August 2020 30(8):649-655

Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants

Autor: Freja Fornander, Tuva Åsatun Solheim, Anne-Sofie Vibæk Eisum, Nanna Scharff Poulsen, Annarita Ghosh Andersen, Julia Rebecka Dahlqvist, Morten Dunø, John Vissing

Publikováno v: Frontiers in Neurology, Vol 12 (2021)

Objective: To explore fat replacement, muscle strength, and clinical features in women heterozygous for a pathogenic DMD variant, we prospectively examined 53 women, assuming that some of these women—despite of the recessive X-linked inheritance—

Externí odkaz: https://doaj.org/article/f742d8f282614363aa40e4e0d78da5f8

Prolonged fasting‐induced hyperketosis, hypoglycaemia and impaired fat oxidation in child and adult patients with spinal muscular atrophy type II

Autor: Gerrit van Hall, Alfred Peter Born, Daniel Emil Tadeusz Raaschou-Pedersen, Anne-Sofie Eisum, John Vissing, Emma J. Hald, Nicoline Løkken, Christina E Høi-Hansen, Annarita G. Andersen, Mette Cathrine Ørngreen

Publikováno v: Acta Paediatrica. 110:3367-3375

AIM This study explored hypoglycaemia and metabolic crises, including hyperketosis, in patients with spinal muscular atrophy (SMA). METHODS The study comprised four adolescents aged 15-17 and six adults aged 19-37 with SMA type II and eight adult con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8397b8d9487fc2da57137e5fe08b23e9
https://doi.org/10.1111/apa.16074

Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII)

Autor: David Hilton-Jones, Anne-Sofie Vibæk Eisum, Karen Lindhardt Madsen, Mads Godtfeldt Stemmerik, Nicolai Preisler, Ralph Wigley, Antonio Toscano, Ros Quinlivan, John Vissing, Astrid Emilie Buch, Olimpia Musumeci

Publikováno v: JIMD Reports, Vol 61, Iss 1, Pp 60-66 (2021)
Buch, A E, Musumeci, O, Wigley, R, Stemmerik, M P G, Eisum, A S V, Madsen, K L, Preisler, N, Hilton-Jones, D, Quinlivan, R, Toscano, A & Vissing, J 2021, ' Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII) ', JIMD Reports, vol. 61, no. 1, pp. 60-66 . https://doi.org/10.1002/jmd2.12232
JIMD Reports

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 nonischemic hand

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c9da6c70835e6cbed15407be56634b6
http://hdl.handle.net/11570/3212054