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Items: 1 to 20 of 393

1.

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 Feb 4. doi: 10.1007/s40271-019-00357-y. [Epub ahead of print] Review.

PMID:
30714084
2.

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
3.

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
4.

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. 2018 Nov 28. pii: S2213-1582(18)30360-7. doi: 10.1016/j.nicl.2018.101615. [Epub ahead of print]

5.

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.

PMID:
30535218
6.

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. 2018 Dec 8. pii: jnnp-2018-319578. doi: 10.1136/jnnp-2018-319578. [Epub ahead of print]

PMID:
30530568
7.

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.

PMID:
30455479
8.

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
9.

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
10.

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.

11.

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.

12.

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
13.

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.

14.

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
15.

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
16.

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
17.

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.

18.

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
19.

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
20.

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

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