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Items: 1 to 50 of 422

1.

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
2.

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 Sep 13. doi: 10.1111/cge.13446. [Epub ahead of print]

PMID:
30211448
3.

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.

PMID:
30191320
4.

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.

5.

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 Sep 4. doi: 10.1002/ana.25326. [Epub ahead of print]

PMID:
30179273
6.

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
7.

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.

8.

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
9.

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
10.

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
11.

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.

12.

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
13.

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
14.

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
15.

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.

16.

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
17.

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
18.

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
19.

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
20.

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.

PMID:
29543137
21.

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
22.

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
23.

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.

PMID:
29393211
24.

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
25.

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
26.

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

Lemmers RJ, van der Vliet PJ, Balog J, Goeman JJ, Arindrarto W, Krom YD, Straasheijm KR, Debipersad RD, Özel G, Sowden J, Snider L, Mul K, Sacconi S, van Engelen B, Tapscott SJ, Tawil R, van der Maarel SM.

Eur J Hum Genet. 2018 Jan;26(1):94-106. doi: 10.1038/s41431-017-0015-0. Epub 2017 Nov 21.

PMID:
29162933
27.

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
28.

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
29.

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.

PMID:
29030457
30.

Reference values of maximum performance tests of speech production.

Knuijt S, Kalf J, Van Engelen B, Geurts A, de Swart B.

Int J Speech Lang Pathol. 2017 Sep 26:1-9. doi: 10.1080/17549507.2017.1380227. [Epub ahead of print]

PMID:
28949263
31.

The cognitive profile of myotonic dystrophy type 1: A systematic review and meta-analysis.

Okkersen K, Buskes M, Groenewoud J, Kessels RPC, Knoop H, van Engelen B, Raaphorst J.

Cortex. 2017 Oct;95:143-155. doi: 10.1016/j.cortex.2017.08.008. Epub 2017 Aug 16. Review.

PMID:
28892766
32.

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
33.

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.

PMID:
28853226
34.

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. 2017 Aug 12. doi: 10.1111/nan.12431. [Epub ahead of print]

PMID:
28801956
35.

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
36.

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
37.

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.

38.

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
39.

225th ENMC international workshop:: A global FSHD registry framework, 18-20 November 2016, Heemskerk, The Netherlands.

Mul K, Kinoshita J, Dawkins H, van Engelen B, Tupler R; FSHD Consortium.

Neuromuscul Disord. 2017 Aug;27(8):782-790. doi: 10.1016/j.nmd.2017.04.004. Epub 2017 Apr 12. No abstract available.

PMID:
28625604
40.

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
41.

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
42.

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.

PMID:
28291574
43.

PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose.

Voermans NC, Preisler N, Madsen KL, Janssen MC, Kusters B, Abu Bakar N, Conte F, Lamberti VM, Nusman F, van Engelen BG, van Scherpenzeel M, Vissing J, Lefeber DJ.

Neuromuscul Disord. 2017 Apr;27(4):370-376. doi: 10.1016/j.nmd.2017.01.014. Epub 2017 Jan 19.

PMID:
28190645
44.

Cytosolic 5'-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis.

Lilleker JB, Rietveld A, Pye SR, Mariampillai K, Benveniste O, Peeters MT, Miller JA, Hanna MG, Machado PM, Parton MJ, Gheorghe KR, Badrising UA, Lundberg IE, Sacconi S, Herbert MK, McHugh NJ, Lecky BR, Brierley C, Hilton-Jones D, Lamb JA, Roberts ME, Cooper RG, Saris CG, Pruijn GJ, Chinoy H, van Engelen BG; all UKMYONET contributors.

Ann Rheum Dis. 2017 May;76(5):862-868. doi: 10.1136/annrheumdis-2016-210282. Epub 2017 Jan 25.

45.

Effects of Mindfulness-Based Stress Reduction on the Mental Health of Clinical Clerkship Students: A Cluster-Randomized Controlled Trial.

van Dijk I, Lucassen PLBJ, Akkermans RP, van Engelen BGM, van Weel C, Speckens AEM.

Acad Med. 2017 Jul;92(7):1012-1021. doi: 10.1097/ACM.0000000000001546.

PMID:
28121650
46.

The yield of diagnostic work-up of patients presenting with myalgia, exercise intolerance, or fatigue: A prospective observational study.

Te Riele MG, Schreuder TH, van Alfen N, Bergman M, Pillen S, Smits BW, van der Wilt GJ, Groenewoud H, Voermans NC, van Engelen BG.

Neuromuscul Disord. 2017 Mar;27(3):243-250. doi: 10.1016/j.nmd.2016.12.002. Epub 2016 Dec 15.

PMID:
28082206
47.

Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy.

van der Sluijs BM, Raz V, Lammens M, van den Heuvel LP, Voermans NC, van Engelen BG.

J Neuromuscul Dis. 2016 Mar 3;3(1):101-109.

PMID:
27854203
48.

Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.

Demirdas S, Dulfer E, Robert L, Kempers M, van Beek D, Micha D, van Engelen BG, Hamel B, Schalkwijk J, Loeys B, Maugeri A, Voermans NC.

Clin Genet. 2017 Mar;91(3):411-425. doi: 10.1111/cge.12853. Epub 2016 Nov 4.

PMID:
27582382
49.

Quantitative MRI reveals decelerated fatty infiltration in muscles of active FSHD patients.

Ferguson MR, Poliachik SL, Shaffer ML, Friedman SD, Voet N, Janssen B, Geurts A, van Engelen B, Heerschap A.

Neurology. 2016 Oct 18;87(16):1746. No abstract available.

PMID:
27754912
50.

Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis: A Case Report.

van Leeuwen RB, Smits BW, Rodenburg RJ, van Engelen BG.

J Clin Neuromuscul Dis. 2016 Sep;18(1):34-6. doi: 10.1097/CND.0000000000000126.

PMID:
27552387

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