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Items: 1 to 50 of 492

1.

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.

Lemmers RJLF, van der Stoep N, Vliet PJV, Moore SA, San Leon Granado D, Johnson K, Topf A, Straub V, Evangelista T, Mozaffar T, Kimonis V, Selvatici R, Ferlini A, Voermans N, van Engelen B, Sacconi S, Tawil R, Lamers M, van der Maarel SM.

J Med Genet. 2019 Jun 26. pii: jmedgenet-2019-106168. doi: 10.1136/jmedgenet-2019-106168. [Epub ahead of print]

PMID:
31243061
2.

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.

Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, van Engelen BG, Bulk S, Verschuuren-Bemelmans CC, Gerkes EH, de Geus C, van der Zwaag PA, Chan S, Chung B, Barge-Schaapveld DQCM, Kriek M, Sznajer Y, van Spaendonck-Zwarts K, van der Kooi AJ, Krause A, Schönewolf-Greulich B, de Die-Smulders C, Sallevelt SCEH, Krapels IPC, Rasmussen M, Maystadt I, Kievit AJA, Witting N, Pennings M, Meijer R, Gillissen C, Kamsteeg EJ, Voermans NC.

J Neuromuscul Dis. 2019;6(2):241-258. doi: 10.3233/JND-180376.

PMID:
31127727
3.

Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI.

Heskamp L, van Nimwegen M, Ploegmakers MJ, Bassez G, Deux JF, Cumming SA, Monckton DG, van Engelen BGM, Heerschap A.

Neurology. 2019 Jun 11;92(24):e2803-e2814. doi: 10.1212/WNL.0000000000007648. Epub 2019 May 22.

PMID:
31118244
4.

Muscle fiber dysfunction contributes to weakness in inclusion body myositis.

Lassche S, Rietveld A, Heerschap A, van Hees HW, Hopman MT, Voermans NC, Saris CG, van Engelen BG, Ottenheijm CA.

Neuromuscul Disord. 2019 Jun;29(6):468-476. doi: 10.1016/j.nmd.2019.03.001. Epub 2019 Mar 7.

PMID:
31101463
5.

Ethical Criteria for Health-Promoting Nudges: A Case-by-Case Analysis.

Engelen B.

Am J Bioeth. 2019 May;19(5):48-59. doi: 10.1080/15265161.2019.1588411.

PMID:
31068115
6.

Primary Production in the Water Column as Major Structuring Element of the Biogeographical Distribution and Function of Archaea in Deep-Sea Sediments of the Central Pacific Ocean.

Wemheuer F, von Hoyningen-Huene AJE, Pohlner M, Degenhardt J, Engelen B, Daniel R, Wemheuer B.

Archaea. 2019 Mar 3;2019:3717239. doi: 10.1155/2019/3717239. eCollection 2019.

7.

The Majority of Active Rhodobacteraceae in Marine Sediments Belong to Uncultured Genera: A Molecular Approach to Link Their Distribution to Environmental Conditions.

Pohlner M, Dlugosch L, Wemheuer B, Mills H, Engelen B, Reese BK.

Front Microbiol. 2019 Apr 2;10:659. doi: 10.3389/fmicb.2019.00659. eCollection 2019.

8.

Effective Vote Markets and the Tyranny of Wealth.

Archer A, Engelen B, Ivanković V.

Res Publica. 2019;25(1):39-54. doi: 10.1007/s11158-017-9371-4. Epub 2017 Nov 13.

9.

Affective symptoms and apathy in myotonic dystrophy type 1 a systematic review and meta-analysis.

van der Velden BG, Okkersen K, Kessels RP, Groenewoud J, van Engelen B, Knoop H, Raaphorst J.

J Affect Disord. 2019 May 1;250:260-269. doi: 10.1016/j.jad.2019.03.036. Epub 2019 Mar 7.

PMID:
30870776
10.

Autoantibody testing in idiopathic inflammatory myopathies.

Rietveld A, Lim J, de Visser M, van Engelen B, Pruijn G, Benveniste O, van der Kooi A, Saris C.

Pract Neurol. 2019 Aug;19(4):284-294. doi: 10.1136/practneurol-2017-001742. Epub 2019 Mar 2. Review.

PMID:
30826741
11.

Effects of weakness of orofacial muscles on swallowing and communication in FSHD.

Mul K, Berggren KN, Sills MY, McCalley A, van Engelen BGM, Johnson NE, Statland JM.

Neurology. 2019 Feb 26;92(9):e957-e963. doi: 10.1212/WNL.0000000000007013. Epub 2019 Jan 25.

PMID:
30804066
12.

The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018.

Lochmüller H, Ambrosini A, van Engelen B, Hansson M, Tibben A, Breukel A, Sterrenburg E, Schrijvers G, Meijer I, Padberg G, Peay H, Monaco L, Snape M, Lennox A, Mazzone E, Bere N, de Lemus M, Landfeldt E, Willmann R; 235th ENMC workshop study group.

J Neuromuscul Dis. 2019;6(1):161-172. doi: 10.3233/JND-180368.

PMID:
30714970
13.

Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review.

Landfeldt E, Edström J, Jimenez-Moreno C, van Engelen BGM, Kirschner J, Lochmüller H.

Patient. 2019 Aug;12(4):365-373. doi: 10.1007/s40271-019-00357-y. Review.

PMID:
30714084
14.

An Unprecedented Medium-Chain Diunsaturated N-acylhomoserine Lactone from Marine Roseobacter Group Bacteria.

Ziesche L, Wolter L, Wang H, Brinkhoff T, Pohlner M, Engelen B, Wagner-Döbler I, Schulz S.

Mar Drugs. 2018 Dec 31;17(1). pii: E20. doi: 10.3390/md17010020.

15.

Consensus-based care recommendations for adults with myotonic dystrophy type 1.

Ashizawa T, Gagnon C, Groh WJ, Gutmann L, Johnson NE, Meola G, Moxley R 3rd, Pandya S, Rogers MT, Simpson E, Angeard N, Bassez G, Berggren KN, Bhakta D, Bozzali M, Broderick A, Byrne JLB, Campbell C, Cup E, Day JW, De Mattia E, Duboc D, Duong T, Eichinger K, Ekstrom AB, van Engelen B, Esparis B, Eymard B, Ferschl M, Gadalla SM, Gallais B, Goodglick T, Heatwole C, Hilbert J, Holland V, Kierkegaard M, Koopman WJ, Lane K, Maas D, Mankodi A, Mathews KD, Monckton DG, Moser D, Nazarian S, Nguyen L, Nopoulos P, Petty R, Phetteplace J, Puymirat J, Raman S, Richer L, Roma E, Sampson J, Sansone V, Schoser B, Sterling L, Statland J, Subramony SH, Tian C, Trujillo C, Tomaselli G, Turner C, Venance S, Verma A, White M, Winblad S.

Neurol Clin Pract. 2018 Dec;8(6):507-520. doi: 10.1212/CPJ.0000000000000531. Review.

16.

Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study.

van Ruitenbeek E, Custers JAE, Verhaak C, Snoeck M, Erasmus CE, Kamsteeg EJ, Schouten MI, Coleman C, Treves S, Van Engelen BG, Jungbluth H, Voermans NC.

Neuromuscul Disord. 2019 Jan;29(1):30-38. doi: 10.1016/j.nmd.2018.10.006. Epub 2018 Nov 9.

PMID:
30578099
17.

Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy.

Goselink RJM, Mul K, van Kernebeek CR, Lemmers RJLF, van der Maarel SM, Schreuder THA, Erasmus CE, Padberg GW, Statland JM, Voermans NC, van Engelen BGM.

Neurology. 2019 Jan 22;92(4):e378-e385. doi: 10.1212/WNL.0000000000006819. Epub 2018 Dec 19.

PMID:
30568007
18.

Structural white matter networks in myotonic dystrophy type 1.

van Dorst M, Okkersen K, Kessels RPC, Meijer FJA, Monckton DG, van Engelen BGM, Tuladhar AM, Raaphorst J; OPTIMISTIC consortium.

Neuroimage Clin. 2019;21:101615. doi: 10.1016/j.nicl.2018.101615. Epub 2018 Nov 28.

19.

Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials.

Stunnenberg BC, Raaphorst J, Groenewoud HM, Statland JM, Griggs RC, Woertman W, Stegeman DF, Timmermans J, Trivedi J, Matthews E, Saris CGJ, Schouwenberg BJ, Drost G, van Engelen BGM, van der Wilt GJ.

JAMA. 2018 Dec 11;320(22):2344-2353. doi: 10.1001/jama.2018.18020.

20.

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.

Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J.

J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8.

PMID:
30530568
21.

Diagnostics of short tandem repeat expansion variants using massively parallel sequencing and componential tools.

de Leeuw RH, Garnier D, Kroon RMJM, Horlings CGC, de Meijer E, Buermans H, van Engelen BGM, de Knijff P, Raz V.

Eur J Hum Genet. 2019 Mar;27(3):400-407. doi: 10.1038/s41431-018-0302-4. Epub 2018 Nov 19.

22.

Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development.

van den Heuvel A, Mahfouz A, Kloet SL, Balog J, van Engelen BGM, Tawil R, Tapscott SJ, van der Maarel SM.

Hum Mol Genet. 2019 Apr 1;28(7):1064-1075. doi: 10.1093/hmg/ddy400.

PMID:
30445587
23.

Respiratory Assessment of ALS Patients: A Nationwide Survey of Current Dutch Practice.

Tilanus TBM, Groothuis JT, Ten Broek-Pastoor JMC, Doorduin J, van Engelen BGM, Kampelmacher MJ, Raaphorst J.

J Neuromuscul Dis. 2018;5(4):431-438. doi: 10.3233/JND-180302.

PMID:
30372689
24.

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.

Lemmers RJLF, van der Vliet PJ, Vreijling JP, Henderson D, van der Stoep N, Voermans N, van Engelen B, Baas F, Sacconi S, Tawil R, van der Maarel SM.

Hum Mol Genet. 2018 Oct 15;27(20):3488-3497. doi: 10.1093/hmg/ddy236.

PMID:
30281091
25.

More important and surprising actions of a moral exemplar trigger stronger admiration and inspiration.

van de Ven N, Archer ATM, Engelen B.

J Soc Psychol. 2019;159(4):383-397. doi: 10.1080/00224545.2018.1498317. Epub 2018 Sep 20.

PMID:
30235063
26.

Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1.

Mul K, Voermans NC, Lemmers RJLF, Jonker MA, van der Vliet PJ, Padberg GW, van Engelen BGM, van der Maarel SM, Horlings CGC.

Clin Genet. 2018 Dec;94(6):521-527. doi: 10.1111/cge.13446. Epub 2018 Oct 8.

PMID:
30211448
27.

Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers.

Mul K, Horlings CGC, Vincenten SCC, Voermans NC, van Engelen BGM, van Alfen N.

J Neurol. 2018 Nov;265(11):2646-2655. doi: 10.1007/s00415-018-9037-y. Epub 2018 Sep 6.

28.

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Manera JAD, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H.

Orphanet J Rare Dis. 2018 Sep 5;13(1):155. doi: 10.1186/s13023-018-0889-0.

29.

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study.

Goselink RJM, Schreuder THA, van Alfen N, de Groot IJM, Jansen M, Lemmers RJLF, van der Vliet PJ, van der Stoep N, Theelen T, Voermans NC, van der Maarel SM, van Engelen BGM, Erasmus CE.

Ann Neurol. 2018 Nov;84(5):627-637. doi: 10.1002/ana.25326. Epub 2018 Oct 16.

30.

Respiratory Assessment of ALS Patients: A Nationwide Survey of Current Dutch Practice.

Tilanus TBM, Groothuis JT, Ten Broek-Pastoor JMC, Doorduin J, van Engelen BGM, Kampelmacher MJ, Raaphorst J.

J Neuromuscul Dis. 2018 Aug 27. doi: 10.3233/JND-18302. [Epub ahead of print]

PMID:
30175982
31.

MRI-Guided Biopsy as a Tool for Diagnosis and Research of Muscle Disorders.

Lassche S, Janssen BH, IJzermans T, Fütterer JJ, Voermans NC, Heerschap A, Küsters B, Mann RM, van Engelen BG.

J Neuromuscul Dis. 2018;5(3):315-319. doi: 10.3233/JND-180318.

32.

A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1.

Wohlgemuth M, Lemmers RJ, Jonker M, van der Kooi E, Horlings CG, van Engelen BG, van der Maarel SM, Padberg GW, Voermans NC.

Neurology. 2018 Jul 31;91(5):e444-e454. doi: 10.1212/WNL.0000000000005915. Epub 2018 Jul 11.

PMID:
29997197
33.

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, Graham JM Jr, Lin AE, Brand H, Moore SA, Johnson K, Evangelista T, Töpf A, Straub V, Kapetanovic García S, Sacconi S, Tawil R, Tapscott SJ, Voermans NC, van Engelen BGM, Horlings CGC, Shaw ND, van der Maarel SM.

Neurology. 2018 Aug 7;91(6):e562-e570. doi: 10.1212/WNL.0000000000005958. Epub 2018 Jul 6.

PMID:
29980640
34.

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial.

Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Glennon J, Cumming S, Littleford R, Monckton DG, Lochmüller H, Catt M, Faber CG, Hapca A, Donnan PT, Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, van Engelen BGM; OPTIMISTIC consortium.

Lancet Neurol. 2018 Aug;17(8):671-680. doi: 10.1016/S1474-4422(18)30203-5. Epub 2018 Jun 19.

PMID:
29934199
35.

Autoantibodies to Cytosolic 5'-Nucleotidase 1A in Primary Sjögren's Syndrome and Systemic Lupus Erythematosus.

Rietveld A, van den Hoogen LL, Bizzaro N, Blokland SLM, Dähnrich C, Gottenberg JE, Houen G, Johannsen N, Mandl T, Meyer A, Nielsen CT, Olsson P, van Roon J, Schlumberger W, van Engelen BGM, Saris CGJ, Pruijn GJM.

Front Immunol. 2018 Jun 5;9:1200. doi: 10.3389/fimmu.2018.01200. eCollection 2018.

36.

Fatigue, not self-rated motor symptom severity, affects quality of life in functional motor disorders.

Gelauff JM, Kingma EM, Kalkman JS, Bezemer R, van Engelen BGM, Stone J, Tijssen MAJ, Rosmalen JGM.

J Neurol. 2018 Aug;265(8):1803-1809. doi: 10.1007/s00415-018-8915-7. Epub 2018 Jun 2.

PMID:
29860667
37.

Is fatigue a disease-specific or generic symptom in chronic medical conditions?

Menting J, Tack CJ, Bleijenberg G, Donders R, Droogleever Fortuyn HA, Fransen J, Goedendorp MM, Kalkman JS, Strik-Albers R, van Alfen N, van der Werf SP, Voermans NC, van Engelen BG, Knoop H.

Health Psychol. 2018 Jun;37(6):530-543. doi: 10.1037/hea0000598.

PMID:
29781654
38.

A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy.

Goselink RJM, van Kernebeek CR, Mul K, Lemmers RJLF, van der Maarel SM, Brouwer OF, Voermans N, Padberg GW, Erasmus CE, van Engelen BGM.

Eur J Paediatr Neurol. 2018 Sep;22(5):782-785. doi: 10.1016/j.ejpn.2018.04.013. Epub 2018 May 3.

PMID:
29753614
39.

Lifetime endogenous estrogen exposure and disease severity in female patients with facioscapulohumeral muscular dystrophy.

Mul K, Horlings CGC, Voermans NC, Schreuder THA, van Engelen BGM.

Neuromuscul Disord. 2018 Jun;28(6):508-511. doi: 10.1016/j.nmd.2018.02.012. Epub 2018 Mar 8.

40.

Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands.

Stunnenberg BC, Raaphorst J, Deenen JCW, Links TP, Wilde AA, Verbove DJ, Kamsteeg EJ, van den Wijngaard A, Faber CG, van der Wilt GJ, van Engelen BGM, Drost G, Ginjaar HB.

Neuromuscul Disord. 2018 May;28(5):402-407. doi: 10.1016/j.nmd.2018.03.006. Epub 2018 Mar 9.

PMID:
29606556
41.

Qualitative and Quantitative Aspects of Pain in Patients With Myotonic Dystrophy Type 2.

van Vliet J, Tieleman AA, Verrips A, Timmerman H, van Dongen RTM, van Engelen BGM, Wilder-Smith OHG.

J Pain. 2018 Aug;19(8):920-930. doi: 10.1016/j.jpain.2018.03.006. Epub 2018 Mar 27.

PMID:
29601898
42.

222nd ENMC International Workshop:: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1-2 July 2016.

Wood L, Bassez G, van Engelen B, Lochmüller H, Schoser B; 222nd ENMC workshop participants.

Neuromuscul Disord. 2018 May;28(5):463-469. doi: 10.1016/j.nmd.2018.02.003. Epub 2018 Feb 12. No abstract available.

PMID:
29550152
43.

Electrical impedance myography in facioscapulohumeral muscular dystrophy: A 1-year follow-up study.

Mul K, Heatwole C, Eichinger K, Dilek N, Martens WB, Van Engelen BGM, Tawil R, Statland JM.

Muscle Nerve. 2018 Aug;58(2):213-218. doi: 10.1002/mus.26127. Epub 2018 Apr 17.

PMID:
29543984
44.

Repeatability and reliability of muscle relaxation properties induced by motor cortical stimulation.

Molenaar JP, Voermans NC, de Jong LA, Stegeman DF, Doorduin J, van Engelen BG.

J Appl Physiol (1985). 2018 Jun 1;124(6):1597-1604. doi: 10.1152/japplphysiol.00455.2017. Epub 2018 Mar 15.

45.

Draft Genome Sequences of Six Vibrio diazotrophicus Strains Isolated from Deep Subsurface Sediments of the Baltic Sea.

Castillo D, Vandieken V, Engelen B, Engelhardt T, Middelboe M.

Genome Announc. 2018 Mar 8;6(10). pii: e00081-18. doi: 10.1128/genomeA.00081-18.

46.

Specific muscle strength is reduced in facioscapulohumeral dystrophy: An MRI based musculoskeletal analysis.

Marra MA, Heskamp L, Mul K, Lassche S, van Engelen BGM, Heerschap A, Verdonschot N.

Neuromuscul Disord. 2018 Mar;28(3):238-245. doi: 10.1016/j.nmd.2017.11.017. Epub 2017 Dec 12.

PMID:
29395674
47.

The Radboud Dysarthria Assessment: Development and Clinimetric Evaluation.

Knuijt S, Kalf JG, van Engelen BGM, de Swart BJM, Geurts ACH.

Folia Phoniatr Logop. 2017;69(4):143-153. doi: 10.1159/000484556. Epub 2018 Jan 26.

48.

Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey.

Jiménez-Moreno AC, Raaphorst J, Babačić H, Wood L, van Engelen B, Lochmüller H, Schoser B, Wenninger S.

Neuromuscul Disord. 2018 Mar;28(3):229-235. doi: 10.1016/j.nmd.2017.12.010. Epub 2017 Dec 27.

PMID:
29361394
49.

Labilibaculum manganireducens gen. nov., sp. nov. and Labilibaculum filiforme sp. nov., Novel Bacteroidetes Isolated from Subsurface Sediments of the Baltic Sea.

Vandieken V, Marshall IPG, Niemann H, Engelen B, Cypionka H.

Front Microbiol. 2018 Jan 5;8:2614. doi: 10.3389/fmicb.2017.02614. eCollection 2017.

50.

Hearing impairment in patients with myotonic dystrophy type 2.

van Vliet J, Tieleman AA, van Engelen BGM, Bassez G, Servais L, Béhin A, Stojkovic T, Meulstee J, Engel JAM, Lamas G, Eymard B, Verhagen WIM, Mamelle E.

Neurology. 2018 Feb 13;90(7):e615-e622. doi: 10.1212/WNL.0000000000004963. Epub 2018 Jan 17.

PMID:
29343467

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