Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Michel A. Willemsen"'
Autor:
Stephanie I. W. van de Stadt, Petra A. W. Mooyer, Inge M. E. Dijkstra, Conny J. M. Dekker, Divya Vats, Moin Vera, Maura R. Z. Ruzhnikov, Keith van Haren, Nelson Tang, Klaas Koop, Michel A. Willemsen, Joannie Hui, Frédéric M. Vaz, Merel S. Ebberink, Marc Engelen, Stephan Kemp, Sacha Ferdinandusse
Publikováno v:
Genes, Vol 12, Iss 12, p 1930 (2021)
Due to newborn screening for X-linked adrenoleukodystrophy (ALD), and the use of exome sequencing in clinical practice, the detection of variants of unknown significance (VUS) in the ABCD1 gene is increasing. In these cases, functional tests in fibro
Externí odkaz:
https://doaj.org/article/157aed7663c2431a83002773105448ce
Autor:
Gerjen H. Tinnevelt, Udo F.H. Engelke, Ron A. Wevers, Stefanie Veenhuis, Michel A. Willemsen, Karlien L.M. Coene, Purva Kulkarni, Jeroen J. Jansen
Publikováno v:
Metabolites, Vol 10, Iss 11, p 470 (2020)
The goal of metabolomics is to measure as many metabolites as possible in order to capture biomarkers that may indicate disease mechanisms. Variable selection in chemometric methods can be divided into the following two groups: (1) sparse methods tha
Externí odkaz:
https://doaj.org/article/27dd9cd331f84e519ca6e9871fed2eba
Autor:
Giovanni Bisello, Christiaan G.J. Saris, Rossella Franchini, Marcel M. Verbeek, Michel A.A.P. Willemsen, Massimiliano Perduca, Mariarita Bertoldi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101071- (2024)
A case of an adult with borderline AADC deficiency symptoms is presented here. Genetic analysis revealed that the patient carries two AADC variants (NM_000790.3: c.1040G > A and c.679G > C) in compound heterozygosis, resulting in p.Arg347Gln and p.Gl
Externí odkaz:
https://doaj.org/article/f88bb0ba303b4684a3d20c32400d0a85
Autor:
Laura A, van de Pol, Laura A, Bonouvrié, R Jeroen, Vermeulen, Marina A J, de Koning-Tijssen, Martje E, van Egmond, Michel A, Willemsen, Annemieke I, Buizer
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 166
Cerebral palsy (CP) is the most common cause of motor disability in children. The largest group of children with CP present with spasticity. Dystonia is estimated to be present in approximately 15% of children with CP, referred to as dyskinetic CP. S
Autor:
Saskia L.S. Houwen-van Opstal, Laura Rodwell, Daphne Bot, Anja Daalmeyer, Michel A.A.P. Willemsen, Erik H. Niks, Imelda J.M. de Groot
Publikováno v:
Neuromuscular Disorders, 32(3), 236-244. PERGAMON-ELSEVIER SCIENCE LTD
Neuromuscular Disorders, 32, 3, pp. 236-244
Neuromuscular Disorders, 32, 236-244
Neuromuscular Disorders, 32, 3, pp. 236-244
Neuromuscular Disorders, 32, 236-244
Contains fulltext : 249817.pdf (Publisher’s version ) (Open Access) We aimed to investigate BMI-z course in patients with Duchenne muscular dystrophy (DMD) during transition to loss of ambulation, and to explore the contribution of caloric intake a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87fc2d9c755f797ea8cb9e10f98a7b38
https://hdl.handle.net/1887/3497484
https://hdl.handle.net/1887/3497484
Autor:
Saskia L.S. Houwen-van Opstal, Amity C. Timmer, A.M. Ten Ham, Allard J.F. Hosman, Michel A.A.P. Willemsen, Imelda J.M. de Groot
Publikováno v:
Journal of Neuromuscular Diseases, 9, 5, pp. 641-648
Journal of Neuromuscular Diseases, 9, 641-648
Journal of Neuromuscular Diseases, 9, 641-648
Background: Progressive equinovarus deformities are common in people with Duchenne Muscular Dystrophy (DMD); they may provoke pain, pressure spots, cause problems with wearing footwear, and may lead to an unstable sitting position. Objective: Explore
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4521e37c90cf8913a8fc2a26a584f7b6
https://repository.ubn.ru.nl/handle/2066/282293
https://repository.ubn.ru.nl/handle/2066/282293
Autor:
Martje E, van Egmond, Coen H A, Lugtenberg, Oebele F, Brouwer, Maria Fiorella, Contarino, Victor S C, Fung, M Rebecca, Heiner-Fokkema, Jacobus J, van Hilten, Annemarie H, van der Hout, Kathryn J, Peall, Richard J, Sinke, Emmanuel, Roze, Corien C, Verschuuren-Bemelmans, Michel A, Willemsen, Nicole I, Wolf, Marina A, Tijssen, Tom J, de Koning
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 32(4)
Genetic disorders causing dystonia show great heterogeneity. Recent studies have suggested that next-generation sequencing techniques such as gene panel analysis can be effective in diagnosing heterogeneous conditions. The objective of this study was
Autor:
Wilhelmina G, Leen, Leena, Mewasingh, Marcel M, Verbeek, Erik-Jan, Kamsteeg, Bart P, van de Warrenburg, Michel A, Willemsen
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 28(10)
Movement disorders are a prominent feature of glucose transporter-1 (GLUT1) deficiency syndrome (GLUT1DS). First-choice treatment is a ketogenic diet, but compliance is poor. We have investigated the effect of the modified Atkins diet as an alternati
Autor:
Walinka vanTol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A. Willemsen, Christian Thiel, Dirk J. Lefeber
Publikováno v:
JIMD Reports, Vol 50, Iss 1, Pp 31-39 (2019)
Abstract Congenital disorders of glycosylation type I (CDG‐I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and neurologic
Externí odkaz:
https://doaj.org/article/15fb8b1950804d25a28949915fc0f2f3
Autor:
Tessa Wassenberg, Ben P.H. Geurtz, Leo Monnens, Ron A. Wevers, Michèl A. Willemsen, Marcel M. Verbeek
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100762- (2021)
Background: Aromatic L-amino acid decarboxylase (AADC) deficiency and tyrosine hydroxylase (TH) deficiency are rare inherited disorders of monoamine neurotransmitter synthesis which are typically diagnosed using cerebrospinal fluid examination of mon
Externí odkaz:
https://doaj.org/article/c28e041f2c7e438b9044e2ecb93a93aa