Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Isis B.T. Joosten"'
Autor:
Maurice Sopacua, Carla M.L. Gorissen-Brouwers, Bianca T.A. de Greef, Isis B.T. Joosten, Catharina G. Faber, Ingemar S.J. Merkies, Janneke G.J. Hoeijmakers
Publikováno v:
Clinical Neurophysiology Practice, Vol 7, Iss , Pp 115-119 (2022)
Objective: Stimulated skin wrinkling test (SSW) has been launched as a non-invasive diagnostic procedure. However, no normative age dependent values have been reported that can be applied in clinical practice. The objectives of the study were to (1)
Externí odkaz:
https://doaj.org/article/19bc50ebc46544029cbcae873b0fddef
Autor:
Isis B.T. Joosten, Cas J. Fuchs, Milou Beelen, Guy Plasqui, Luc J.C. van Loon, Catharina G. Faber
Publikováno v:
Journal of Neuromuscular Diseases. :1-12
Background: Myotonic dystrophy type 1 (DM1) patients are at risk for metabolic abnormalities and commonly experience overweight and obesity. Possibly, weight issues result from lowered resting energy expenditure (EE) and impaired muscle oxidative met
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7bc9874c94a9a4f358ee7803c5c659df
https://doi.org/10.3233/jnd-230036
https://doi.org/10.3233/jnd-230036
Autor:
Isis B.T. Joosten, Corinne G. C. Horlings, Bettine A. H. Vosse, Anouk Wagner, David S. H. Bovenkerk, Reinder Evertz, Kevin Vernooy, Baziel G. M. van Engelen, Catharina G. Faber
Publikováno v:
Muscle and Nerve, 67, 2, pp. 130-137
Muscle and Nerve, 67, 130-137
Muscle & Nerve, 67, 130-137. Wiley
Muscle and Nerve, 67, 130-137
Muscle & Nerve, 67, 130-137. Wiley
Contains fulltext : 290747.pdf (Publisher’s version ) (Open Access) INTRODUCTION/AIMS: Although the extent of muscle weakness and organ complications has not been well studied in patients with late-onset myotonic dystrophy type 1 (DM1), adult-onset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a8307ac4d5d866f83d763ca3f41f407
https://pubmed.ncbi.nlm.nih.gov/36484161
https://pubmed.ncbi.nlm.nih.gov/36484161
Publikováno v:
Cassidy and Allanson's Management of Genetic Syndromes. :611-627
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::217b397c43293e37e69b8f1d3496bf0a
https://doi.org/10.1002/9781119432692.ch39
https://doi.org/10.1002/9781119432692.ch39
Autor:
Isis B.T. Joosten, Debby M.E.I. Hellebrekers, Catharina G. Faber, Monique M. Gerrits, Christine E. M. de Die-Smulders, Bianca T. A. de Greef, Hubert J.M. Smeets
Publikováno v:
Eur J Hum Genet
European Journal of Human Genetics, 28(7), 956-962. Nature Publishing Group
European Journal of Human Genetics, 28(7), 956-962. Nature Publishing Group
Myotonic dystrophy type 1 (DM1) is caused by a CTG trinucleotide repeat expansion on chromosome 19q13.3. While DM1 premutation (36–50 repeats) and protomutation (51–80 repeats) allele carriers are mostly asymptomatic, offspring is at risk of inhe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ede2f1263d2e5fcb4ccb5ad0d522013b
https://doi.org/10.1038/s41431-020-0601-4
https://doi.org/10.1038/s41431-020-0601-4
Electrocardiographic predictors of infrahissian conduction disturbances in myotonic dystrophy type 1
Autor:
Kevin Vernooy, Bianca T. A. de Greef, Romy van Lohuizen, Catharina G. Faber, Isis B.T. Joosten, Baziel G.M. van Engelen, Reinder Evertz, Dennis W. den Uijl
Publikováno v:
Europace, 23, 298-304
EP Europace, 23(2), 298-304. Oxford University Press
Europace
Europace, 23, 2, pp. 298-304
EP Europace, 23(2), 298-304. Oxford University Press
Europace
Europace, 23, 2, pp. 298-304
Aims The aim of this study was to determine electrocardiographic (ECG) criteria predicting abnormal infrahissian conduction in patients with myotonic dystrophy type 1 (DM1), as these criteria could be used to identify the need for an electrophysiolog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edc71bc3b66a640e5165304da637f9ec
http://hdl.handle.net/2066/233805
http://hdl.handle.net/2066/233805
Publikováno v:
Neurology, 90(9), E814-E814. LIPPINCOTT WILLIAMS & WILKINS
A 31-year-old man presented with intermittent vertical diplopia, lasting for seconds to hours. He described a sensation of movement of his right eye, comparable to that of involuntary eyelid contractions. Fatigue induced the symptoms. Self-recorded v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3879ab98174c588fc8107c8353526eed
https://cris.maastrichtuniversity.nl/en/publications/3ae261da-9a0c-4090-8565-684b84c314eb
https://cris.maastrichtuniversity.nl/en/publications/3ae261da-9a0c-4090-8565-684b84c314eb
Autor:
H.J.M. Smeets, C.E.M. de Die-Smulders, B. de Greef, Debby M.E.I. Hellebrekers, C. G. Faber, Isis B.T. Joosten, Monique M. Gerrits
Publikováno v:
Neuromuscular Disorders. 29:S51
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eb180f6925b6affcae2b76ecd9cd6eb3
https://doi.org/10.1016/j.nmd.2019.06.064
https://doi.org/10.1016/j.nmd.2019.06.064