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Items: 1 to 50 of 126

1.

Impact of NBS for VLCAD deficiency on genetic, enzymatic and clinical outcomes.

Bleeker JC, Kok IL, Ferdinandusse S, van der Pol WL, Cuppen I, Bosch AM, Langeveld M, Derks TGJ, Williams M, de Vries M, Mulder MF, Rubio Gozalbo E, van der Velden MGMS, Rennings AJ, Schielen PJCI, Dekkers E, Houtkooper RH, Waterham HR, Pras-Raves ML, Wanders RJA, van Hasselt PM, Schoenmakers M, Wijburg FA, Visser G.

J Inherit Metab Dis. 2019 Feb 13. doi: 10.1002/jimd.12075. [Epub ahead of print]

PMID:
30761551
2.

Assessment of fatigability in patients with spinal muscular atrophy: development and content validity of a set of endurance tests.

Bartels B, Habets LE, Stam M, Wadman RI, Wijngaarde CA, Schoenmakers MAGC, Takken T, Hulzebos EHJ, van der Pol WL, de Groot JF.

BMC Neurol. 2019 Feb 9;19(1):21. doi: 10.1186/s12883-019-1244-3.

3.

Clinical Remission of Delta-Aminolevulinic Acid Dehydratase Deficiency through Suppression of Erythroid Heme Synthesis.

Neeleman RA, van Beers EJ, Friesema EC, Koole-Lesuis R, van der Pol WL, Wilson JHP, Langendonk JG.

Hepatology. 2019 Feb 6. doi: 10.1002/hep.30543. [Epub ahead of print]

PMID:
30724374
4.

Psychological well-being in adults with spinal muscular atrophy: the contribution of participation and psychological needs.

Fischer MJ, Asselman FL, Kruitwagen-van Reenen ET, Verhoef M, Wadman RI, Visser-Meily JMA, van der Pol WL, Schröder CD.

Disabil Rehabil. 2019 Jan 29:1-9. doi: 10.1080/09638288.2018.1555864. [Epub ahead of print]

PMID:
30696284
5.

Nerve ultrasound: A reproducible diagnostic tool in peripheral neuropathy.

Telleman JA, Herraets IJT, Goedee HS, Verhamme C, Nikolakopoulos S, van Asseldonk JH, van der Pol WL, van den Berg LH, Visser LH.

Neurology. 2018 Dec 28. pii: 10.1212/WNL.0000000000006856. doi: 10.1212/WNL.0000000000006856. [Epub ahead of print]

PMID:
30593519
6.

International chronic inflammatory demyelinating polyneuropathy outcome study (ICOS): Protocol of a prospective observational cohort study on clinical and biological predictors of disease course and outcome.

Bunschoten C, Eftimov F, van der Pol WL, Jacobs BC; ICOS Consortium.

J Peripher Nerv Syst. 2018 Dec 20. doi: 10.1111/jns.12296. [Epub ahead of print]

PMID:
30570196
7.

The POWER-tool: Recommendations for involving patient representatives in choosing relevant outcome measures during rare disease clinical trial design.

Gaasterland CMW, Jansen-van der Weide MC, Vroom E, Leeson-Beevers K, Kaatee M, Kaczmarek R, Bartels B, van der Pol WL, Roes KCB, van der Lee JH.

Health Policy. 2018 Dec;122(12):1287-1294. doi: 10.1016/j.healthpol.2018.09.011. Epub 2018 Sep 21.

8.

A continuous repetitive task to detect fatigability in spinal muscular atrophy.

Stam M, Wadman RI, Bartels B, Leeuw M, Westeneng HJ, Wijngaarde CA, van den Berg LH, van der Pol WL.

Orphanet J Rare Dis. 2018 Sep 12;13(1):160. doi: 10.1186/s13023-018-0904-5.

9.

Nerve ultrasound and magnetic resonance imaging in the diagnosis of neuropathy.

Goedee HS, van der Pol WL, Hendrikse J, van den Berg LH.

Curr Opin Neurol. 2018 Oct;31(5):526-533. doi: 10.1097/WCO.0000000000000607.

PMID:
30153189
10.

Protocol for a phase II, monocentre, double-blind, placebo-controlled, cross-over trial to assess efficacy of pyridostigmine in patients with spinal muscular atrophy types 2-4 (SPACE trial).

Stam M, Wadman RI, Wijngaarde CA, Bartels B, Asselman FL, Otto LAM, Goedee HS, Habets LE, de Groot JF, Schoenmakers MAGC, Cuppen I, van den Berg LH, van der Pol WL.

BMJ Open. 2018 Jul 30;8(7):e019932. doi: 10.1136/bmjopen-2017-019932.

11.

Limited maximal mouth opening in patients with spinal muscular atrophy complicates endotracheal intubation: An observational study.

Wijngaarde CA, Stam M, de Kort FAS, Wadman RI, van der Pol WL.

Eur J Anaesthesiol. 2018 Aug;35(8):629-631. doi: 10.1097/EJA.0000000000000838. No abstract available.

12.

High-resolution ultrasound in patients with Wartenberg's migrant sensory neuritis, a case-control study.

Herraets IJT, Goedee HS, Telleman JA, van Asseldonk JH, Visser LH, van der Pol WL, van den Berg LH.

Clin Neurophysiol. 2018 Jan;129(1):232-237. doi: 10.1016/j.clinph.2017.10.040. Epub 2017 Nov 21.

PMID:
29202391
13.

Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c-4.

Wadman RI, Wijngaarde CA, Stam M, Bartels B, Otto LAM, Lemmink HH, Schoenmakers MAGC, Cuppen I, van den Berg LH, van der Pol WL.

Eur J Neurol. 2018 Mar;25(3):512-518. doi: 10.1111/ene.13534. Epub 2018 Feb 2.

PMID:
29194869
14.

High prevalence of the MYD88 L265P mutation in IgM anti-MAG paraprotein-associated peripheral neuropathy.

Vos JM, Notermans NC, D'Sa S, Lunn MP, van der Pol WL, Kraan W, Reilly MM, Chalker J, Gupta R, Kersten MJ, Pals ST, Minnema MC.

J Neurol Neurosurg Psychiatry. 2018 Sep;89(9):1007-1009. doi: 10.1136/jnnp-2017-316689. Epub 2017 Oct 10. No abstract available.

PMID:
29018161
15.

Metalloprotease-mediated cleavage of PlexinD1 and its sequestration to actin rods in the motoneuron disease spinal muscular atrophy (SMA).

Rademacher S, Verheijen BM, Hensel N, Peters M, Bora G, Brandes G, Vieira de Sá R, Heidrich N, Fischer S, Brinkmann H, van der Pol WL, Wirth B, Pasterkamp RJ, Claus P.

Hum Mol Genet. 2017 Oct 15;26(20):3946-3959. doi: 10.1093/hmg/ddx282.

PMID:
29016853
16.

A comparative study of brachial plexus sonography and magnetic resonance imaging in chronic inflammatory demyelinating neuropathy and multifocal motor neuropathy.

Goedee HS, Jongbloed BA, van Asseldonk JH, Hendrikse J, Vrancken AFJE, Franssen H, Nikolakopoulos S, Visser LH, van der Pol WL, van den Berg LH.

Eur J Neurol. 2017 Oct;24(10):1307-1313. doi: 10.1111/ene.13380. Epub 2017 Aug 1.

PMID:
28762574
17.

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H.

Brain. 2017 Aug 1;140(8):2093-2103. doi: 10.1093/brain/awx138.

PMID:
28633435
18.

Brachial plexus magnetic resonance imaging differentiates between inflammatory neuropathies and does not predict disease course.

Jongbloed BA, Bos JW, Rutgers D, van der Pol WL, van den Berg LH.

Brain Behav. 2017 Apr 4;7(5):e00632. doi: 10.1002/brb3.632. eCollection 2017 May.

19.

Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial.

Bertini E, Dessaud E, Mercuri E, Muntoni F, Kirschner J, Reid C, Lusakowska A, Comi GP, Cuisset JM, Abitbol JL, Scherrer B, Ducray PS, Buchbjerg J, Vianna E, van der Pol WL, Vuillerot C, Blaettler T, Fontoura P; Olesoxime SMA Phase 2 Study Investigators.

Lancet Neurol. 2017 Jul;16(7):513-522. doi: 10.1016/S1474-4422(17)30085-6. Epub 2017 Apr 28. Erratum in: Lancet Neurol. 2017 Aug;16(8):584.

20.

Cardiac pathology in spinal muscular atrophy: a systematic review.

Wijngaarde CA, Blank AC, Stam M, Wadman RI, van den Berg LH, van der Pol WL.

Orphanet J Rare Dis. 2017 Apr 11;12(1):67. doi: 10.1186/s13023-017-0613-5. Review.

21.

Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0-4.

Wadman RI, Stam M, Gijzen M, Lemmink HH, Snoeck IN, Wijngaarde CA, Braun KP, Schoenmakers MA, van den Berg LH, Dooijes D, van der Pol WL.

J Neurol Neurosurg Psychiatry. 2017 Apr;88(4):365-367. doi: 10.1136/jnnp-2016-314292. Epub 2017 Jan 20. No abstract available.

PMID:
28108522
22.

Diagnostic value of sonography in treatment-naive chronic inflammatory neuropathies.

Goedee HS, van der Pol WL, van Asseldonk JH, Franssen H, Notermans NC, Vrancken AJ, van Es MA, Nikolakopoulos S, Visser LH, van den Berg LH.

Neurology. 2017 Jan 10;88(2):143-151. doi: 10.1212/WNL.0000000000003483. Epub 2016 Dec 7.

PMID:
27927940
23.

A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls.

Wadman RI, Stam M, Jansen MD, van der Weegen Y, Wijngaarde CA, Harschnitz O, Sodaar P, Braun KP, Dooijes D, Lemmink HH, van den Berg LH, van der Pol WL.

PLoS One. 2016 Nov 28;11(11):e0167087. doi: 10.1371/journal.pone.0167087. eCollection 2016.

24.

Correlates of health related quality of life in adult patients with spinal muscular atrophy.

Kruitwagen-Van Reenen ET, Wadman RI, Visser-Meily JM, van den Berg LH, Schröder C, van der Pol WL.

Muscle Nerve. 2016 Nov;54(5):850-855. doi: 10.1002/mus.25148. Epub 2016 Sep 21.

PMID:
27074445
25.

MRI shows thickening and altered diffusion in the median and ulnar nerves in multifocal motor neuropathy.

Haakma W, Jongbloed BA, Froeling M, Goedee HS, Bos C, Leemans A, van den Berg LH, Hendrikse J, van der Pol WL.

Eur Radiol. 2017 May;27(5):2216-2224. doi: 10.1007/s00330-016-4575-0. Epub 2016 Sep 21.

26.

Comparative study of peripheral nerve Mri and ultrasound in multifocal motor neuropathy and amyotrophic lateral sclerosis.

Jongbloed BA, Haakma W, Goedee HS, Bos JW, Bos C, Hendrikse J, Van Den Berg LH, Van Der Pol WL.

Muscle Nerve. 2016 Dec;54(6):1133-1135. doi: 10.1002/mus.25391. Epub 2016 Oct 1.

PMID:
27571543
27.

Nerve sonography to detect peripheral nerve involvement in vasculitis syndromes.

Goedee HS, van der Pol WL, van Asseldonk JH, Vrancken AFJE, Notermans NC, Visser LH, van den Berg LH.

Neurol Clin Pract. 2016 Aug;6(4):293-303. doi: 10.1212/CPJ.0000000000000258.

28.

Autoantibody pathogenicity in a multifocal motor neuropathy induced pluripotent stem cell-derived model.

Harschnitz O, van den Berg LH, Johansen LE, Jansen MD, Kling S, Vieira de Sá R, Vlam L, van Rheenen W, Karst H, Wierenga CJ, Pasterkamp RJ, van der Pol WL.

Ann Neurol. 2016 Jul;80(1):71-88. doi: 10.1002/ana.24680. Epub 2016 Jun 1.

PMID:
27130524
29.

Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

Diekman EF, Visser G, Schmitz JP, Nievelstein RA, de Sain-van der Velden M, Wardrop M, Van der Pol WL, Houten SM, van Riel NA, Takken T, Jeneson JA.

PLoS One. 2016 Feb 16;11(2):e0147818. doi: 10.1371/journal.pone.0147818. eCollection 2016.

30.

Mandibular dysfunction as a reflection of bulbar involvement in SMA type 2 and 3.

van Bruggen HW, Wadman RI, Bronkhorst EM, Leeuw M, Creugers N, Kalaykova SI, van der Pol WL, Steenks MH.

Neurology. 2016 Feb 9;86(6):552-9. doi: 10.1212/WNL.0000000000002348. Epub 2016 Jan 13.

PMID:
26764025
31.

Classical and lectin complement pathway activity in polyneuropathy associated with IgM monoclonal gammopathy.

Stork AC, Cats EA, Vlam L, Heezius E, Rooijakkers S, Herpers B, de Jong BA, Rijkers G, van Strijp J, Notermans NC, van den Berg LH, van der Pol WL.

J Neuroimmunol. 2016 Jan 15;290:76-9. doi: 10.1016/j.jneuroim.2015.11.010. Epub 2015 Dec 1.

PMID:
26711574
32.

Rasch-built Overall Disability Scale for Multifocal motor neuropathy (MMN-RODS(©) ).

Vanhoutte EK, Faber CG, van Nes SI, Cats EA, Van der Pol WL, Gorson KC, van Doorn PA, Cornblath DR, van den Berg LH, Merkies IS; PeriNomS Study Group.

J Peripher Nerv Syst. 2015 Sep;20(3):296-305. doi: 10.1111/jns.12141. Erratum in: J Peripher Nerv Syst. 2016 Mar;21(1):55.

PMID:
26329270
33.

Cytokine profiles in multifocal motor neuropathy and progressive muscular atrophy.

Vlam L, Stam M, de Jager W, Cats EA, van den Berg LH, van der Pol WL.

J Neuroimmunol. 2015 Sep 15;286:1-4. doi: 10.1016/j.jneuroim.2015.06.008. Epub 2015 Jun 20.

34.

Complement activity is associated with disease severity in multifocal motor neuropathy.

Vlam L, Cats EA, Harschnitz O, Jansen MD, Piepers S, Veldink JH, Franssen H, Stork AC, Heezius E, Rooijakkers SH, Herpers BL, van Strijp JA, van den Berg LH, van der Pol WL.

Neurol Neuroimmunol Neuroinflamm. 2015 Jun 25;2(4):e119. doi: 10.1212/NXI.0000000000000119. eCollection 2015 Aug.

35.

Grip strength comparison in immune-mediated neuropathies: Vigorimeter vs. Jamar.

Draak TH, Pruppers MH, van Nes SI, Vanhoutte EK, Bakkers M, Gorson KC, Van der Pol WL, Lewis RA, Notermans NC, Nobile-Orazio E, Léger JM, Van den Bergh PY, Lauria G, Bril V, Katzberg H, Lunn MP, Pouget J, van der Kooi AJ, van den Berg LH, van Doorn PA, Cornblath DR, Hahn AF, Faber CG, Merkies IS; PeriNomS study group.

J Peripher Nerv Syst. 2015 Sep;20(3):269-76. doi: 10.1111/jns.12126.

PMID:
26115516
36.

Outcome measures in MMN revisited: further improvement needed.

Pruppers MH, Draak TH, Vanhoutte EK, Van der Pol WL, Gorson KC, Léger JM, Nobile-Orazio E, Lewis RA, van den Berg LH, Faber CG, Merkies IS; PeriNomS study group.

J Peripher Nerv Syst. 2015 Sep;20(3):306-18. doi: 10.1111/jns.12124.

PMID:
26115442
37.

Impairment measures versus inflammatory RODS in GBS and CIDP: a responsiveness comparison.

Vanhoutte EK, Draak TH, Gorson KC, van Nes SI, Hoeijmakers JG, Van der Pol WL, Notermans NC, Lewis RA, Nobile-Orazio E, Léger JM, Van den Bergh PY, Lauria G, Bril V, Katzberg H, Lunn MP, Pouget J, van der Kooi AJ, Hahn AF, van Doorn PA, Cornblath DR, van den Berg LH, Faber CG, Merkies IS; PeriNomS Study Group.

J Peripher Nerv Syst. 2015 Sep;20(3):289-95. doi: 10.1111/jns.12118.

PMID:
26114893
38.

Comparing the NIS vs. MRC and INCAT sensory scale through Rasch analyses.

Draak TH, Vanhoutte EK, van Nes SI, Gorson KC, Van der Pol WL, Notermans NC, Nobile-Orazio E, Lewis RA, Léger JM, Van den Bergh PY, Lauria G, Bril V, Katzberg H, Lunn MP, Pouget J, van der Kooi AJ, Hahn AF, van den Berg LH, van Doorn PA, Cornblath DR, Faber CG, Merkies IS; PeriNomS Study Group.

J Peripher Nerv Syst. 2015 Sep;20(3):277-88. doi: 10.1111/jns.12127.

PMID:
26110493
39.

Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study.

Bartels B, Takken T, Blank AC, van Moorsel H, van der Pol WL, de Groot JF.

Pediatr Phys Ther. 2015 Fall;27(3):227-34. doi: 10.1097/PEP.0000000000000159.

PMID:
26102164
40.

The Diagnostic Utility of Determining Anti-GM1: GalC Complex Antibodies in Multifocal Motor Neuropathy: A Validation Study.

Galban-Horcajo F, Vlam L, Delmont E, Halstead SK, van den Berg L, van der Pol WL, Willison HJ.

J Neuromuscul Dis. 2015 Jun 4;2(2):157-165.

41.

RYR1-related myopathies: a wide spectrum of phenotypes throughout life.

Snoeck M, van Engelen BG, Küsters B, Lammens M, Meijer R, Molenaar JP, Raaphorst J, Verschuuren-Bemelmans CC, Straathof CS, Sie LT, de Coo IF, van der Pol WL, de Visser M, Scheffer H, Treves S, Jungbluth H, Voermans NC, Kamsteeg EJ.

Eur J Neurol. 2015 Jul;22(7):1094-112. doi: 10.1111/ene.12713. Epub 2015 May 11.

PMID:
25960145
42.

Association of IgM monoclonal gammopathy with progressive muscular atrophy and multifocal motor neuropathy: a case-control study.

Vlam L, Piepers S, Sutedja NA, Jacobs BC, Tio-Gillen AP, Stam M, Franssen H, Veldink JH, Cats EA, Notermans NC, Bloem AC, Wadman RI, van der Pol WL, van den Berg LH.

J Neurol. 2015 Mar;262(3):666-73. doi: 10.1007/s00415-014-7612-4. Epub 2015 Jan 1.

PMID:
25549972
43.

Changing outcome in inflammatory neuropathies: Rasch-comparative responsiveness.

Draak TH, Vanhoutte EK, van Nes SI, Gorson KC, Van der Pol WL, Notermans NC, Nobile-Orazio E, Léger JM, Van den Bergh PY, Lauria G, Bril V, Katzberg H, Lunn MP, Pouget J, van der Kooi AJ, Hahn AF, Doorn PA, Cornblath DR, van den Berg LH, Faber CG, Merkies IS; PeriNomS Study Group.

Neurology. 2014 Dec 2;83(23):2124-32. doi: 10.1212/WNL.0000000000001044. Epub 2014 Nov 5.

PMID:
25378677
44.

Clonality of anti-GM1 IgM antibodies in multifocal motor neuropathy and the Guillain-Barré syndrome.

Cats EA, van der Pol WL, Tio-Gillen AP, Diekstra FP, van den Berg LH, Jacobs BC.

J Neurol Neurosurg Psychiatry. 2015 May;86(5):502-4. doi: 10.1136/jnnp-2014-308118. Epub 2014 Aug 25.

PMID:
25157033
45.

Bulbar muscle MRI changes in patients with SMA with reduced mouth opening and dysphagia.

Wadman RI, van Bruggen HW, Witkamp TD, Sparreboom-Kalaykova SI, Stam M, van den Berg LH, Steenks MH, van der Pol WL.

Neurology. 2014 Sep 16;83(12):1060-6. doi: 10.1212/WNL.0000000000000796. Epub 2014 Aug 13.

PMID:
25122201
46.

Clinical phenotype of patients with neuropathy associated with monoclonal gammopathy: a comparative study and a review of the literature.

Stork AC, van der Pol WL, Franssen H, Jacobs BC, Notermans NC.

J Neurol. 2014 Jul;261(7):1398-404. doi: 10.1007/s00415-014-7354-3. Epub 2014 Apr 30. Review.

PMID:
24781837
47.

MMN: from immunological cross-talk to conduction block.

Harschnitz O, Jongbloed BA, Franssen H, Straver DC, van der Pol WL, van den Berg LH.

J Clin Immunol. 2014 Jul;34 Suppl 1:S112-9. doi: 10.1007/s10875-014-0026-3. Epub 2014 Apr 13. Review.

48.

Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree.

van der Pol WL, Leijenaar JF, Spliet WG, Lavrijsen SW, Jansen NJ, Braun KP, Mulder M, Timmers-Raaijmakers B, Ratsma K, Dooijes D, van Haelst MM.

Mol Genet Genomic Med. 2014 Mar;2(2):134-7. doi: 10.1002/mgg3.52. Epub 2013 Dec 12.

49.

Prevalence, specificity and functionality of anti-ganglioside antibodies in neuropathy associated with IgM monoclonal gammopathy.

Stork AC, Jacobs BC, Tio-Gillen AP, Eurelings M, Jansen MD, van den Berg LH, Notermans NC, van der Pol WL.

J Neuroimmunol. 2014 Mar 15;268(1-2):89-94. doi: 10.1016/j.jneuroim.2014.01.012. Epub 2014 Jan 29.

PMID:
24529728
50.

Fcγ receptor IIIA genotype is associated with rituximab response in antimyelin-associated glycoprotein neuropathy.

Stork AC, Notermans NC, van den Berg LH, Schellevis RD, Niermeijer JM, Nederend M, Leusen JH, van der Pol WL.

J Neurol Neurosurg Psychiatry. 2014 Aug;85(8):918-20. doi: 10.1136/jnnp-2013-306958. Epub 2014 Jan 31.

PMID:
24487381

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