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Items: 1 to 50 of 402

1.

Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations.

Voermans NC, van der Bilt RC, IJspeert J, Hogrel JY, Jeanpierre M, Behin A, Laforet P, Stojkovic T, van Engelen BG, Padberg GW, Sacconi S, Lemmers RJLF, van der Maarel SM, Eymard B, Bassez G.

J Neurol. 2019 Aug 31. doi: 10.1007/s00415-019-09494-8. [Epub ahead of print]

PMID:
31471688
2.

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort.

Cumming SA, Jimenez-Moreno C, Okkersen K, Wenninger S, Daidj F, Hogarth F, Littleford R, Gorman G, Bassez G, Schoser B, Lochmüller H, van Engelen BGM, Monckton DG; OPTIMISTIC Consortium.

Neurology. 2019 Sep 3;93(10):e995-e1009. doi: 10.1212/WNL.0000000000008056. Epub 2019 Aug 8.

PMID:
31395669
4.

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
5.

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.

6.

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
7.

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
8.

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.

9.

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
10.

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
11.

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.

12.

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.

13.

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
14.

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.

15.

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
16.

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
17.

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
18.

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.

19.

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.

20.

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
21.

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.

22.

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.

23.

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.

24.

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
25.

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.

26.

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
27.

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
28.

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
29.

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.

30.

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
31.

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
32.

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.

33.

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.

34.

Ultrasound: A Potential Tool for Detecting of Fasciitis in Dermatomyositis and Polymyositis.

Bhansing KJ, VAN Rosmalen MH, VAN Engelen BG, VAN Riel PL, Pillen S, Vonk MC.

J Rheumatol. 2018 Mar;45(3):441-442. doi: 10.3899/jrheum.171188. No abstract available.

PMID:
29496919
35.

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
36.

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.

37.

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
38.

Involvement of pelvic girdle and proximal leg muscles in early oculopharyngeal muscular dystrophy.

van der Sluijs BM, Lassche S, Knuiman GJ, Kusters B, Heerschap A, Hopman M, Schreuder TH, van Engelen BGM, Voermans NC.

Neuromuscul Disord. 2017 Dec;27(12):1099-1105. doi: 10.1016/j.nmd.2017.09.010. Epub 2017 Sep 28.

PMID:
29102430
39.

Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data.

Goselink RJM, Voermans NC, Okkersen K, Brouwer OF, Padberg GW, Nikolic A, Tupler R, Dorobek M, Mah JK, van Engelen BGM, Schreuder THA, Erasmus CE.

Neuromuscul Disord. 2017 Dec;27(12):1077-1083. doi: 10.1016/j.nmd.2017.09.007. Epub 2017 Sep 21. Review.

PMID:
29102079
40.

Adding quantitative muscle MRI to the FSHD clinical trial toolbox.

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

Neurology. 2017 Nov 14;89(20):2057-2065. doi: 10.1212/WNL.0000000000004647. Epub 2017 Oct 13.

41.

MRI in sarcoglycanopathies: a large international cohort study.

Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C.

J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):72-77. doi: 10.1136/jnnp-2017-316736. Epub 2017 Sep 9.

PMID:
28889091
42.

Muscle ultrasonography is a potential tool for detecting fasciitis in dermatomyositis and polymyositis: comment on the article by Yoshida et al.

Bhansing KJ, van Rosmalen MH, van Engelen BG, van Riel PL, Pillen S, Vonk MC.

Arthritis Rheumatol. 2017 Nov;69(11):2248-2249. doi: 10.1002/art.40240. No abstract available.

43.

Evidence of ER stress and UPR activation in patients with Brody disease and Brody syndrome.

Guglielmi V, Voermans NC, Oosterhof A, Nowis D, van Engelen BG, Tomelleri G, Vattemi G.

Neuropathol Appl Neurobiol. 2018 Aug;44(5):533-536. doi: 10.1111/nan.12431. No abstract available.

PMID:
28801956
44.

Brain imaging in myotonic dystrophy type 1: A systematic review.

Okkersen K, Monckton DG, Le N, Tuladhar AM, Raaphorst J, van Engelen BGM.

Neurology. 2017 Aug 29;89(9):960-969. doi: 10.1212/WNL.0000000000004300. Epub 2017 Aug 2. Review.

PMID:
28768849
45.

Clinical phenotype and outcome of hepatitis E virus-associated neuralgic amyotrophy.

van Eijk JJJ, Dalton HR, Ripellino P, Madden RG, Jones C, Fritz M, Gobbi C, Melli G, Pasi E, Herrod J, Lissmann RF, Ashraf HH, Abdelrahim M, Masri OABAL, Fraga M, Benninger D, Kuntzer T, Aubert V, Sahli R, Moradpour D, Blasco-Perrin H, Attarian S, Gérolami R, Colson P, Giordani MT, Hartl J, Pischke S, Lin NX, Mclean BN, Bendall RP, Panning M, Peron JM, Kamar N, Izopet J, Jacobs BC, van Alfen N, van Engelen BGM.

Neurology. 2017 Aug 29;89(9):909-917. doi: 10.1212/WNL.0000000000004297. Epub 2017 Aug 2.

PMID:
28768846
46.

The predictive value of respiratory function tests for non-invasive ventilation in amyotrophic lateral sclerosis.

Tilanus TBM, Groothuis JT, TenBroek-Pastoor JMC, Feuth TB, Heijdra YF, Slenders JPL, Doorduin J, Van Engelen BG, Kampelmacher MJ, Raaphorst J.

Respir Res. 2017 Jul 25;18(1):144. doi: 10.1186/s12931-017-0624-8.

47.

Hepatitis E virus infection and acute non-traumatic neurological injury: A prospective multicentre study.

Dalton HR, van Eijk JJJ, Cintas P, Madden RG, Jones C, Webb GW, Norton B, Pique J, Lutgens S, Devooght-Johnson N, Woolson K, Baker J, Saunders M, Househam L, Griffiths J, Abravanel F, Izopet J, Kamar N, van Alfen N, van Engelen BGM, Hunter JG, van der Eijk AA, Bendall RP, Mclean BN, Jacobs BC.

J Hepatol. 2017 Nov;67(5):925-932. doi: 10.1016/j.jhep.2017.07.010. Epub 2017 Jul 20.

PMID:
28734938
48.

The assessment of fatigue: Psychometric qualities and norms for the Checklist individual strength.

Worm-Smeitink M, Gielissen M, Bloot L, van Laarhoven HWM, van Engelen BGM, van Riel P, Bleijenberg G, Nikolaus S, Knoop H.

J Psychosom Res. 2017 Jul;98:40-46. doi: 10.1016/j.jpsychores.2017.05.007. Epub 2017 May 8.

PMID:
28554371
49.

Respiratory function in facioscapulohumeral muscular dystrophy 1.

Wohlgemuth M, Horlings CGC, van der Kooi EL, Gilhuis HJ, Hendriks JCM, van der Maarel SM, van Engelen BGM, Heijdra YF, Padberg GW.

Neuromuscul Disord. 2017 Jun;27(6):526-530. doi: 10.1016/j.nmd.2017.03.008. Epub 2017 Mar 22.

PMID:
28416348
50.

Respiratory pattern in a FSHD pediatric population.

van Kernebeek CR, Seijger CGW, Goselink RJM, Heijdra YF, van Engelen BGM.

Respir Med. 2017 May;126:130-131. doi: 10.1016/j.rmed.2017.03.007. Epub 2017 Mar 7. No abstract available.

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