Zobrazeno 1 - 10
of 109
pro vyhledávání: '"W. L. van der Pol"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)
Abstract Background Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearly identical SMN gene
Externí odkaz:
https://doaj.org/article/8c70df5be7ba4814b7799e91771fa9d1
Autor:
A M B, van der Heul, R P A, van Eijk, R I, Wadman, F, Asselman, I, Cuppen, R A J, Nievelstein, E, Gerrits, W L, van der Pol, L, van den Engel-Hoek
Publikováno v:
Dysphagia. 37(4)
Mastication problems can have a negative impact on the intake of food and quality of life. This cross-sectional study characterizes mastication problems using clinical and instrumental assessments in patients with spinal muscular atrophy (SMA) types
Autor:
Camiel A. Wijngaarde, Henny H. Lemmink, Marloes Stam, Louise A.M. Otto, W. L. van der Pol, Inge Cuppen, M. A.G.C. Schoenmakers, Bart Bartels, L. H. van den Berg, Renske I. Wadman
Publikováno v:
European Journal of Neurology, 25(3), 512. Wiley-Blackwell
European Journal of Neurology, 25(3), 512-518. Wiley
European Journal of Neurology, 25(3), 512-518. Wiley
Background and purposeNatural history studies in spinal muscular atrophy (SMA) have primarily focused on infants and children. Natural history studies encompassing all age groups and SMA types are important for the interpretation of treatment effects
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8a6ef98f4d03cfd8dc68607688dc62b
https://dspace.library.uu.nl/handle/1874/364874
https://dspace.library.uu.nl/handle/1874/364874
Autor:
L. H. van den Berg, W. L. van der Pol, Bas A. Jongbloed, A. F. J. E. Vrancken, H. S. Goedee, Hessel Franssen, Leendert Visser, Stavros Nikolakopoulos, J.T.H. van Asseldonk, Jeroen Hendrikse
Publikováno v:
European Journal of Neurology, 24(10), 1307. Wiley-Blackwell
Background and purpose To compare the performance of neuroimaging techniques, i.e. high-resolution ultrasound (HRUS) and magnetic resonance imaging (MRI), when applied to the brachial plexus, as part of the diagnostic work-up of chronic inflammatory
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af3e735a85adb231dd391cc68e1a79b3
https://dspace.library.uu.nl/handle/1874/355887
https://dspace.library.uu.nl/handle/1874/355887
Autor:
B. O. Khatri, M. P. McQuillen, H. Kaminski, G. Cutter, R. L. Ruff, G. Wolfe, A. C. J. Stork, N. C. Notermans, A. F. J. E. Vrancken, L. H. van den Berg, W.- L. van der Pol, F. J. Mateen, A. Zubkov, R. Muralidharan, G. Petty, J. Winters, I. Cortese, V. Chaudhry, D. Cornblath, Y. So, F. Cantor, M. M. Winter, C. Freeman, J. Schwartz
Publikováno v:
Neurology. 77:e101-e104
{#article-title-2} To the Editor: I have dedicated my professional career to caring for patients with chronic and debilitating neurologic diseases and have come to appreciate and respect the meaning of the Hippocratic Oath statement “First do no ha
Autor:
Henny G. Otten, W. L. van der Pol, L. H. van den Berg, Sanne Piepers, Elisabeth A. Cats, Nadia A. Sutedja, J. H. Veldink
Publikováno v:
Neurology. 74:828-832
Objectives: The favorable response to treatment with IV immunoglobulins and the presence of IgM antibodies to the glycolipid GM1 are indications that inflammation underlies multifocal motor neuropathy (MMN) pathogenesis. We investigated the associati
Autor:
H. Franssen, Elisabeth A. Cats, Nobuhiro Yuki, Bart C. Jacobs, Anne P. Tio-Gillen, Sanne Piepers, J.T.H. van Asseldonk, W. L. van der Pol, L. H. van den Berg
Publikováno v:
Neurology, 75(22), 1961-1967. Lippincott Williams & Wilkins
Objective: To determine the prevalence and specificity of antibodies against single gangliosides and ganglioside complexes in serum from 88 patients with multifocal motor neuropathy (MMN) and to study the association with clinical features. Methods:
Autor:
U.A. Badrising, Axel R. Wintzen, Bernard M. J. Uitdehaag, M. de Visser, W. L. van der Pol, Jessica E. Hoogendijk, M. Blokland‐Fromme, J. van de Vlekkert, I. M. Bronner, Jeanette H. W. Leusen
Publikováno v:
Tissue antigens, 73(6), 586-589. Wiley-Blackwell
Bronner, I F, Hoogendijk, JE, de Visser, M, van de Vlekkert, J, Badrising, U A, Wintzen, A R, Uitdehaag, B M J, Blokland-Fromme, M, Leusen, J H & van der Pol, W L 2009, ' Association of the leukocyte immunoglobulin G (Fc gamma) receptor IIIa-158V/F polymorphism with inflammatory myopathies in Dutch patients ', Tissue Antigens, vol. 73, no. 6, pp. 586-589 . https://doi.org/10.1111/j.1399-0039.2009.01236.x
Tissue Antigens, 73(6), 586. Wiley-Blackwell
Tissue Antigens, 73(6), 586-589. Wiley-Blackwell
Bronner, I F, Hoogendijk, JE, de Visser, M, van de Vlekkert, J, Badrising, U A, Wintzen, A R, Uitdehaag, B M J, Blokland-Fromme, M, Leusen, J H & van der Pol, W L 2009, ' Association of the leukocyte immunoglobulin G (Fc gamma) receptor IIIa-158V/F polymorphism with inflammatory myopathies in Dutch patients ', Tissue Antigens, vol. 73, no. 6, pp. 586-589 . https://doi.org/10.1111/j.1399-0039.2009.01236.x
Tissue Antigens, 73(6), 586. Wiley-Blackwell
Tissue Antigens, 73(6), 586-589. Wiley-Blackwell
Leukocytes are involved in the pathogenesis of idiopathic inflammatory myopathies (IIMs). Immunoglobulin G (IgG) receptors (FcgammaR) link the specificity of IgG to the effector functions of leukocytes. Several FcgammaR subclasses display functional
Autor:
Martin Lammens, Joost Raaphorst, B.G.M. van Engelen, M. Snoeck, M. de Visser, Corien C. Verschuuren-Bemelmans, L.T.L. Sie, I.F.M. de Coo, Benno Küsters, Hans Scheffer, Chiara S. M. Straathof, Heinz Jungbluth, Nicol C. Voermans, Joery P. Molenaar, Susan Treves, E. Kamsteeg, Rowdy Meijer, W. L. van der Pol
Publikováno v:
European Journal of Neurology, 22(7), 1094-1112. Wiley
European journal of neurology, 22(7), 1094-1112. Wiley-Blackwell
European Journal of Neurology, 22, 7, pp. 1094-1112
European journal of neurology
European Journal of Neurology, 22, 1094-1112
European Journal of Neurology, 22(7), 1094-1112. Wiley-Blackwell Publishing Ltd
European Journal of Neurology, 22(7), 1094-1112
European journal of neurology, 22(7), 1094-1112. Wiley-Blackwell
European Journal of Neurology, 22, 7, pp. 1094-1112
European journal of neurology
European Journal of Neurology, 22, 1094-1112
European Journal of Neurology, 22(7), 1094-1112. Wiley-Blackwell Publishing Ltd
European Journal of Neurology, 22(7), 1094-1112
Item does not contain fulltext BACKGROUND AND PURPOSE: Although several recent studies have implicated RYR1 mutations as a common cause of various myopathies and the malignant hyperthermia susceptibility (MHS) trait, many of these studies have been l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f79ba762d529d49cd6c769a89f65e39a
https://research.rug.nl/en/publications/4f654232-9210-435a-bb5e-b1d1d476944b
https://research.rug.nl/en/publications/4f654232-9210-435a-bb5e-b1d1d476944b
Autor:
Wietse Kuis, Elisabeth A. M. Sanders, W. L. van der Pol, A. van Royen-Kerkhof, N.M. (Nina) van Sorge
Publikováno v:
Tijdschrift voor kindergeneeskunde. 72:88-93
In dit artikel wordt ingegaan op de genetisch bepaalde varianten van het immuunsysteem die mogelijk een risicoverhogende, dan wel verlagende invloed kunnen hebben op het ontstaan of het beloop van auto-immuunziekten. Systemische lupus erythematosus e