Výsledky vyhledávání - "Bas C. Stunnenberg"

Akademický článek

Multiple N-of-1 trials to investigate hypoxia therapy in Parkinson’s disease: study rationale and protocol

Autor: Jules M. Janssen Daalen, Marjan J. Meinders, Federica Giardina, Kit C. B. Roes, Bas C. Stunnenberg, Soania Mathur, Philip N. Ainslie, Dick H. J. Thijssen, Bastiaan R. Bloem

Publikováno v: BMC Neurology, Vol 22, Iss 1, Pp 1-12 (2022)

Abstract Background Parkinson’s disease (PD) is a neurodegenerative disease, for which no disease-modifying therapies exist. Preclinical and clinical evidence suggest that hypoxia-based therapy might have short- and long-term benefits in PD. We pre

Externí odkaz: https://doaj.org/article/e444660f0b144644abab9ac05a31d6ee

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Akademický článek

N-of-1 Trials: Evidence-Based Clinical Care or Medical Research that Requires IRB Approval? A Practical Flowchart Based on an Ethical Framework

Autor: Bas C. Stunnenberg, Jaap Deinum, Tom Nijenhuis, Frans Huysmans, Gert Jan van der Wilt, Baziel G.M. van Engelen, Frans van Agt

Publikováno v: Healthcare, Vol 8, Iss 1, p 49 (2020)

N-of-1 trials can provide high-class evidence on drug treatment effectiveness at the individual patient level and have been given renewed interest over the past decade due to improvements of the initial single patient design. Despite these recent dev

Externí odkaz: https://doaj.org/article/76100ed0b0a84b309f0a18972cd1e08a

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Novel SCN9A Mutations in a Compound Heterozygous Girl with Congenital Insensitivity to Pain

Autor: Maria Ponson-Wever, Ivo Peters, Bas C. Stunnenberg, Mieke M. van Haelst, Monique M. Gerrits, Eline A. Verberne, Charlotte A. Haaxma

Publikováno v: Journal of Pediatric Neurology, 19(3):2000024, 189-192. Thieme Medical Publishers
Journal of Pediatric Neurology, 19, 03, pp. 189-192
Journal of Pediatric Neurology, 19(03), 189-192. IOS Press
Journal of Pediatric Neurology, 19(3):2000024, 189-192. Thieme Medical Publishers Inc.
Stunnenberg, B, Ponson-Wever, M, Verberne, E, Peters, I, Gerrits, M, Haaxma, C & Van Haelst, M 2021, ' Novel SCN9A Mutations in a Compound Heterozygous Girl with Congenital Insensitivity to Pain ', Journal of Pediatric Neurology, vol. 19, no. 3, 2000024, pp. 189-192 . https://doi.org/10.1055/s-0040-1714067
Journal of Pediatric Neurology, 19, 189-192

Congenital Insensitivity to Pain (CIP) is a rare disorder that is characterized by the inability to perceive pain. It is caused by bi-allelic inactivating mutations in the SCN9A gene, which encodes the pore-forming α-subunit of the nerve voltage-gat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad80aabc5eb3d0811b83b79a5e4a54a4
https://doi.org/10.1055/s-0040-1714067

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Continued misuse of orphan drug legislation: a life-threatening risk for mexiletine

Publikováno v: European Heart Journal, 41(5), 614-617. Oxford University Press
European Heart Journal, 41, 614-617
European Heart Journal, 41, 5, pp. 614-617
Postema, P G, Schwartz, P J, Arbelo, E, Bannenberg, W J, Behr, E R, Belhassen, B, Brugada, J, Brugada, P, John Camm, A, Casado-Arroyo, R, 't Hoen, E, Hollak, C E M, Kääb, S, Lambiase, P D, Leenhardt, A, Priori, S G, Probst, V, Stunnenberg, B C, Tfelt-Hansen, J, Van Engelen, B G M, Veltmann, C, Viskin, S & Wilde, A A M 2020, ' Continued misuse of orphan drug legislation : a life-threatening risk for mexiletine ', European Heart Journal, vol. 41, no. 5, pp. 614-617 . https://doi.org/10.1093/eurheartj/ehaa041

Contains fulltext : 218857.pdf (Publisher’s version ) (Closed access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80f8a488b525bcd97cbbecd478025df1
https://doi.org/10.1093/eurheartj/ehaa041

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N-of-1 Trials in Neurology: A Systematic Review

Autor: Joost Berends, Hans Groenewoud, Bas C. Stunnenberg, Gert Jan van der Wilt, Robert C. Griggs, Gea Drost, Joost Raaphorst, Jane Nikles, Jeffrey Statland, Baziel G.M. van Engelen

Publikováno v: Neurology, 98, e174-e185
Neurology, 98(2), E174-E185. Lippincott Williams and Wilkins
Neurology, 98, 2, pp. e174-e185

Background and ObjectivesTo perform a systematic review of published N-of-1 trials (e.g., single patient crossover trials) in neurologic disorders, including an assessment of methodologic quality and reporting.MethodsWe searched PubMed, MEDLINE, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24b514c443f75e7fe73862ccfcd94cdf
https://doi.org/10.1212/WNL.0000000000012998

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Cost-Based Price Calculation of Mexiletine for Nondystrophic Myotonia

Autor: Saco J. de Visser, Bas C. Stunnenberg, Vincent van der Wel, Sibren van den Berg, Carla E. M. Hollak, Pieter G. Postema, Martijn H. van der Ree, Lonneke Timmers

Publikováno v: Value in health, 24(7), 925-929. Elsevier Limited
Value in Health, 24, 7, pp. 925-929
Value in Health, 24, 925-929

Objectives Mexiletine is a long-known drug used for the treatment of arrhythmias and repurposed in the 1980s for patients with nondystrophic myotonia (NDM). Recently, the price of mexiletine in Europe increased significantly after registration as an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81585791e81c45877867cde3930aeb5c
https://pure.amc.nl/en/publications/costbased-price-calculation-of-mexiletine-for-nondystrophic-myotonia(1108007c-ce8b-4e0e-adb9-162d3e0b33f6).html

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N-of-1 Trials: Evidence-Based Clinical Care or Medical Research that Requires IRB Approval? A Practical Flowchart Based on an Ethical Framework

Autor: Gert Jan van der Wilt, Jaap Deinum, Frans van Agt, Bas C. Stunnenberg, F.T.M. Huysmans, Tom Nijenhuis, Baziel G.M. van Engelen

Publikováno v: Healthcare, Vol 8, Iss 1, p 49 (2020)
Healthcare
Healthcare, 8
Healthcare, 8, 1

Contains fulltext : 218298.pdf (Publisher’s version ) (Open Access) N-of-1 trials can provide high-class evidence on drug treatment effectiveness at the individual patient level and have been given renewed interest over the past decade due to impro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e7f7fc2a0bb775685744545e5667e6f
https://www.mdpi.com/2227-9032/8/1/49

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Guidelines on clinical presentation and management of nondystrophic myotonias

Autor: Jeffrey Statland, W. David Arnold, Giovanni Meola, Michael G. Hanna, Samantha LoRusso, Baziel G.M. van Engelen, Stephen C. Cannon, Emma Matthews, Valeria A. Sansone, Jaya Trivedi, Bertrand Fontaine, Bas C. Stunnenberg, Richard J. Barohn, Robert C. Griggs, Savine Vicart

Publikováno v: Muscle & nerve. Supplement.
Muscle & nerve. Supplement., 2020, 62 (4), pp.430-444. ⟨10.1002/mus.26887⟩
Muscle Nerve
Muscle and Nerve, 62, 4, pp. 430-444
Muscle and Nerve, 62, 430-444

Contains fulltext : 229739.pdf (Publisher’s version ) (Closed access) The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Cl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84ec05a1420fbda18f320e371bf7d797
https://hal.sorbonne-universite.fr/hal-03461673

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N-of-1 trial of salbutamol in hyperkalaemic periodic paralysis

Autor: Esther C Merkus, Baziel G.M. van Engelen, Bas van Vlijmen, Gert Jan van der Wilt, Bas C. Stunnenberg, Jeffrey Statland, Robert C. Griggs, Joost Raaphorst, Robyn Weijma, Christiaan G J Saris, Hans Groenewoud

Publikováno v: Journal of Neurology, Neurosurgery and Psychiatry, 92(12):326347, 1352-1353. BMJ Publishing Group
Journal of Neurology, Neurosurgery, and Psychiatry, 92, 12, pp. 1352-1353
Journal of Neurology, Neurosurgery, and Psychiatry, 92, 1352-1353

Hyperkalemic periodic paralysis (HyperPP) is a rare neurological channelopathy caused by gain-of-function mutations in the skeletal muscle sodium channel gene ( SCN4A ) that disrupts sarcolemmal membrane excitability. Clinically, HyperPP is character

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9851ad539bcc83a4a16132228db8172
https://hdl.handle.net/2066/244267

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