Zobrazeno 1 - 10
of 224
pro vyhledávání: '"Michèl A.A.P Willemsen"'
Autor:
Jan J.G.M. Verschuuren, Jos G.M. Hendriksen, Lotte Heutinck, Edith H. C. Cup, Erik H. Niks, Imelda J. M. de Groot, Yvonne D. Krom, Michèl A.A.P. Willemsen, Saskia L.S. Houwen-van Opstal, Merel Jansen
Publikováno v:
Muscle & Nerve, 64(6), 701-709. WILEY
Muscle and Nerve, 64, 6, pp. 701-709
Muscle and Nerve, 64, 701-709
Muscle and Nerve, 64, 6, pp. 701-709
Muscle and Nerve, 64, 701-709
Contains fulltext : 244841.pdf (Publisher’s version ) (Open Access) INTRODUCTION/AIMS: As life expectancy improves for patients with Duchenne muscular dystrophy (DMD), new symptoms are likely to arise. This aims of this study are: (1) to explore th
Autor:
Rinze F. Neuteboom, F. Visscher, H. M. Schippers, Els A. J. Peeters, Maartje Boon, Coriene E. Catsman-Berrevoets, M. J. Eikelenboom, Cacha M.P.C.D. Peeters-Scholte, D.P. Bakker, J.M.F. Niermeijer, R.J. Vermeulen, Irina N. Snoeck, Michèl A.A.P. Willemsen, Yu Yi M Wong, L.T.L. Sie, R. Brandsma, J. F. de Rijk-van Andel, R. P. Portier, Jelte Helfferich, E Daniëlle van Pelt, Arlette L. Bruijstens, Charlotte A. Haaxma, J. P. A. Samijn, K. G. J. van Dijk, Kees P.J. Braun, Marc Engelen, Aad Verrips, Erik H. Niks
Publikováno v:
Brain and Development, 43(5), 626-636. Elsevier
Helfferich, J, Bruijstens, A L, Wong, Y Y M, Danielle van Pelt, E, Boon, M, Neuteboom, R F, Bakker, D P, Braun, K P J, van Dijk, K G J, Eikelenboom, M J, Engelen, M, Brandsma, R, Haaxma, C A, Niermeijer, J M F, Niks, E H, Peeters, E A J, Peeters-Scholte, C M P C D, Portier, R P, de Rijk-van Andel, J F, Samijn, J P A, Schippers, H M, Sie, L T L, Snoeck, I N, Vermeulen, R J, Verrips, A, Visscher, F, Willemsen, M A A P & Catsman-Berrevoets, C E 2021, ' Prognostic factors for relapse and outcome in pediatric acute transverse myelitis ', Brain and Development, vol. 43, no. 5, pp. 626-636 . https://doi.org/10.1016/j.braindev.2020.12.019
Brain & Development, 43(5), 626-636. Elsevier
Brain & development, 43(5), 626-636. Elsevier
Helfferich, J, Bruijstens, A L, Wong, Y Y M, Danielle van Pelt, E, Boon, M, Neuteboom, R F, Bakker, D P, Braun, K P J, van Dijk, K G J, Eikelenboom, M J, Engelen, M, Brandsma, R, Haaxma, C A, Niermeijer, J M F, Niks, E H, Peeters, E A J, Peeters-Scholte, C M P C D, Portier, R P, de Rijk-van Andel, J F, Samijn, J P A, Schippers, H M, Sie, L T L, Snoeck, I N, Vermeulen, R J, Verrips, A, Visscher, F, Willemsen, M A A P & Catsman-Berrevoets, C E 2021, ' Prognostic factors for relapse and outcome in pediatric acute transverse myelitis ', Brain and Development, vol. 43, no. 5, pp. 626-636 . https://doi.org/10.1016/j.braindev.2020.12.019
Brain & Development, 43(5), 626-636. Elsevier
Brain & development, 43(5), 626-636. Elsevier
Objective: It may be difficult for clinicians to estimate the prognosis of pediatric acute transverse myelitis (ATM). The aim of this study was to define prognostic factors for relapsing disease and poor outcome in pediatric ATM.Methods: This prospec
Autor:
Tessa M.A. Peters, Jona Merx, Pieter C. Kooijman, Marek Noga, Siebolt de Boer, Loes A. van Gemert, Guido Salden, Udo F.H. Engelke, Dirk J. Lefeber, Rianne E. van Outersterp, Giel Berden, Thomas J. Boltje, Rafael Artuch, Leticia Pías, Ángeles García-Cazorla, Ivo Barić, Beat Thöny, Jos Oomens, Jonathan Martens, Ron A. Wevers, Marcel M. Verbeek, Karlien L.M. Coene, Michèl A.A.P. Willemsen
We used next-generation metabolic screening to identify new biomarkers for improved diagnosis and pathophysiological understanding of glucose transporter type 1 deficiency syndrome (GLUT1DS), comparing metabolic CSF profiles from 11 patients to those
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a9ed5b015117b27503889b8226c8707
https://doi.org/10.1101/2022.04.15.22273511
https://doi.org/10.1101/2022.04.15.22273511
Autor:
Nienke J H van Os, Michèl A.A.P. Willemsen, Stefanie J.G. Veenhuis, Leenke van Haaften, Marjo H.J.C. van Gerven, Elisabeth H Mulder, Corry M.R. Weemaes
Publikováno v:
Developmental Medicine & Child Neurology, 63, 4, pp. 450-456
Developmental Medicine & Child Neurology, 63, 450-456
Developmental Medicine and Child Neurology
Developmental Medicine & Child Neurology, 63, 450-456
Developmental Medicine and Child Neurology
Aim To investigate the characteristics and severity of dysarthria in children and adults with ataxia telangiectasia. Method All children and adults with ataxia telangiectasia who visited our multidisciplinary outpatient clinic for ataxia telangiectas
Autor:
Martin Lammens, Gert Van Goethem, Michèl A.A.P. Willemsen, Bram Heijs, Marjolein Breur, Martin Giera, Mia L. Pras-Raves, Pippa Staps, Marianna Bugiani, Ron A. Wevers, Marinette van der Graaf, Annemieke Groen, William B. Rizzo, Frédéric M. Vaz, Antoine H. C. van Kampen, Sacha Ferdinandusse
Publikováno v:
Journal of Inherited Metabolic Disease
Staps, P, Rizzo, W B, Vaz, F M, Bugiani, M, Giera, M, Heijs, B, van Kampen, A H C, Pras-Raves, M L, Breur, M, Groen, A, Ferdinandusse, S, van der Graaf, M, Van Goethem, G, Lammens, M, Wevers, R A & Willemsen, M A A P 2020, ' Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome ', Journal of Inherited Metabolic Disease, vol. 43, no. 6, pp. 1265-1278 . https://doi.org/10.1002/jimd.12275
Journal of inherited metabolic disease
Journal of Inherited Metabolic Disease, 43(6), 1265-1278. Springer Netherlands
Journal of Inherited Metabolic Disease, 43(6), 1265-1278. WILEY
Journal of Inherited Metabolic Disease, 43, 6, pp. 1265-1278
Journal of Inherited Metabolic Disease, 43, 1265-1278
Journal of inherited metabolic disease, 43(6), 1265-1278. Springer Netherlands
Staps, P, Rizzo, W B, Vaz, F M, Bugiani, M, Giera, M, Heijs, B, van Kampen, A H C, Pras-Raves, M L, Breur, M, Groen, A, Ferdinandusse, S, van der Graaf, M, Van Goethem, G, Lammens, M, Wevers, R A & Willemsen, M A A P 2020, ' Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome ', Journal of Inherited Metabolic Disease, vol. 43, no. 6, pp. 1265-1278 . https://doi.org/10.1002/jimd.12275
Journal of inherited metabolic disease
Journal of Inherited Metabolic Disease, 43(6), 1265-1278. Springer Netherlands
Journal of Inherited Metabolic Disease, 43(6), 1265-1278. WILEY
Journal of Inherited Metabolic Disease, 43, 6, pp. 1265-1278
Journal of Inherited Metabolic Disease, 43, 1265-1278
Journal of inherited metabolic disease, 43(6), 1265-1278. Springer Netherlands
Contains fulltext : 229584.pdf (Publisher’s version ) (Open Access) Sjögren-Larsson syndrome (SLS) is a rare neurometabolic syndrome caused by deficient fatty aldehyde dehydrogenase. Patients exhibit intellectual disability, spastic paraplegia, an
Publikováno v:
Neurology, 98, E103-E104
Neurology
Neurology, 98, 1, pp. E103-E104
Neurology
Neurology, 98, 1, pp. E103-E104
Contains fulltext : 242517.pdf (Publisher’s version ) (Closed access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2801c8cf8e88a0e2c8fadbc0da8cc145
http://hdl.handle.net/2066/242517
http://hdl.handle.net/2066/242517
Autor:
Guy Helman, Parand Zarekiani, Samantha A.M. Tromp, Ashley Andrews, Lorenzo D. Botto, Joshua L. Bonkowsky, Anna Chassevent, Elisa Giorgio, Tommaso Pippucci, Shen Wei, Constance Smith‐Hicks, Giovanna Vaula, Michèl A.A.P Willemsen, Mareike Schimmel, Kurt Vollert, Fumitaka Shimizu, Takashi Kanda, Matthew Lynch, Tony Roscioli, Ryan J. Taft, Cas Simons, Marianna Bugiani, Taco W. Kuijpers, Marjo S. van der Knaap
Publikováno v:
Annals of Neurology, 92, 5, pp. 895-901
Annals of Neurology, 92(5), 895-901. John Wiley and Sons Inc.
Annals of Neurology, 92, 895-901
Helman, G, Zarekiani, P, Tromp, S A M, Andrews, A, Botto, L D, Bonkowsky, J L, Chassevent, A, Giorgio, E, Pippucci, T, Wei, S, Smith-Hicks, C, Vaula, G, Willemsen, M A A P, Schimmel, M, Vollert, K, Shimizu, F, Kanda, T, Lynch, M, Roscioli, T, Taft, R J, Simons, C, Bugiani, M, Kuijpers, T W & van der Knaap, M S 2022, ' Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy ', Annals of Neurology, vol. 92, no. 5, pp. 895-901 . https://doi.org/10.1002/ana.26477
Annals of neurology, 92(5), 895-901. John Wiley and Sons Inc.
Annals of Neurology, 92(5), 895-901. John Wiley and Sons Inc.
Annals of Neurology, 92, 895-901
Helman, G, Zarekiani, P, Tromp, S A M, Andrews, A, Botto, L D, Bonkowsky, J L, Chassevent, A, Giorgio, E, Pippucci, T, Wei, S, Smith-Hicks, C, Vaula, G, Willemsen, M A A P, Schimmel, M, Vollert, K, Shimizu, F, Kanda, T, Lynch, M, Roscioli, T, Taft, R J, Simons, C, Bugiani, M, Kuijpers, T W & van der Knaap, M S 2022, ' Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy ', Annals of Neurology, vol. 92, no. 5, pp. 895-901 . https://doi.org/10.1002/ana.26477
Annals of neurology, 92(5), 895-901. John Wiley and Sons Inc.
Item does not contain fulltext NOTCH1 belongs to the NOTCH family of proteins that regulate cell fate and inflammatory responses. Somatic and germline NOTCH1 variants have been implicated in cancer, Adams-Oliver syndrome, and cardiovascular defects.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b91eeaa027fc44539ee7a9a7b49de19d
https://repository.ubn.ru.nl/handle/2066/287942
https://repository.ubn.ru.nl/handle/2066/287942
Autor:
Erik-Jan Kamsteeg, Michèl A.A.P. Willemsen, Meyke Schouten, Rick C. Helmich, Bart P.C. van de Warrenburg, Tessa Wassenberg
Publikováno v:
Parkinsonism & Related Disorders, 74, 12-15
Parkinsonism & Related Disorders, 74, pp. 12-15
Parkinsonism & Related Disorders, 74, pp. 12-15
Background Autosomal dominant GCH1 mutations are known to cause dopa-responsive dystonia (DRD). In this case series, we confirm a variant phenotype, characterized by predominant spastic paraplegia at disease onset with development of dystonia and/or
Autor:
Nienke J H van Os, Judith van Gaalen, Helma Hijdra, Michèl A.A.P. Willemsen, Corry M.R. Weemaes, Marcel van Deuren, Alex M. Taylor, Bart P.C. van de Warrenburg
Publikováno v:
Journal of Neurology, 267, 830-837
Journal of Neurology
Journal of Neurology, 267, 3, pp. 830-837
Journal of Neurology
Journal of Neurology, 267, 3, pp. 830-837
Objective Patients with classic ataxia–telangiectasia (A–T) generally die in the second or third decade of life. Clinical descriptions of A–T tend to focus on the symptoms at presentation. However, during the course of the disease, other sympto
Autor:
Merel S. Ebberink, Inge M. E. Dijkstra, Stephanie I. W. van de Stadt, C. Dekker, Michèl A.A.P. Willemsen, Keith Van Haren, Klaas Koop, Marc Engelen, Joannie Hui, Frédéric M. Vaz, Stephan Kemp, Moin Vera, Divya Vats, Petra A. W. Mooyer, Nelson L.S. Tang, Maura R.Z. Ruzhnikov, Sacha Ferdinandusse
Publikováno v:
Genes; Volume 12; Issue 12; Pages: 1930
Genes, 12
Genes, 12(12):1930. Multidisciplinary Digital Publishing Institute (MDPI)
Genes, 12, 12
Genes, Vol 12, Iss 1930, p 1930 (2021)
Genes, 12
Genes, 12(12):1930. Multidisciplinary Digital Publishing Institute (MDPI)
Genes, 12, 12
Genes, Vol 12, Iss 1930, 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