van de Velde N, Krom Y, Bongers J, Hoek R, Ikelaar N, van der Holst M
J Neuromuscul Dis. 2024; 11(5):1095-1109.
PMID: 39031379
PMC: 11380288.
DOI: 10.3233/JND-240061.
Kroon R, Kalf J, Swart B, Heskamp L, Rooy J, van Engelen B
Neurology. 2024; 102(1):e207833.
PMID: 38165364
PMC: 10834117.
DOI: 10.1212/WNL.0000000000207833.
Wilson L, Macken W, Perry L, Record C, Schon K, Frezatti R
Brain. 2023; 146(12):5098-5109.
PMID: 37516995
PMC: 10690022.
DOI: 10.1093/brain/awad254.
Kroon R, Kalf J, Meijers R, Swart B, Cameron I, Doorduin J
Muscle Nerve. 2022; 66(4):453-461.
PMID: 35859342
DOI: 10.1002/mus.27679.
Wang Z, Qiu L, Lin M, Chen L, Zheng F, Lin L
Lancet Reg Health West Pac. 2022; 18:100323.
PMID: 35024656
PMC: 8671729.
DOI: 10.1016/j.lanwpc.2021.100323.
Behavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy.
Tankink M, Horlings C, Voermans N, van der Sluijs B, Kessels R, van Engelen B
J Neuromuscul Dis. 2021; 9(1):129-135.
PMID: 34334411
PMC: 8842748.
DOI: 10.3233/JND-200592.
Ancestral Origin of the First Indian Families with Myotonic Dystrophy Type 2.
Damen M, Schijvenaars M, Schimmel-Naber M, Groothuismink J, Coenen M, Tieleman A
J Neuromuscul Dis. 2021; 8(4):715-722.
PMID: 34024776
PMC: 9789478.
DOI: 10.3233/JND-210671.
The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry.
Hodgkinson V, Lounsberry J, MDahoma S, Russell A, Jewett G, Benstead T
J Neuromuscul Dis. 2020; 8(1):53-61.
PMID: 32925088
PMC: 7902956.
DOI: 10.3233/JND-200538.
Swallowing, Chewing and Speaking: Frequently Impaired in Oculopharyngeal Muscular Dystrophy.
Kroon R, Horlings C, Swart B, van Engelen B, Kalf J
J Neuromuscul Dis. 2020; 7(4):483-494.
PMID: 32804098
PMC: 7592669.
DOI: 10.3233/JAD-200511.
Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy.
Goselink R, Mul K, van Kernebeek C, Lemmers R, van der Maarel S, Schreuder T
Neurology. 2018; 92(4):e378-e385.
PMID: 30568007
PMC: 6345117.
DOI: 10.1212/WNL.0000000000006819.
Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials.
Stunnenberg B, Raaphorst J, Groenewoud H, Statland J, Griggs R, Woertman W
JAMA. 2018; 320(22):2344-2353.
PMID: 30535218
PMC: 6583079.
DOI: 10.1001/jama.2018.18020.
Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).
Goselink R, Schreuder T, Mul K, Voermans N, Pelsma M, de Groot I
BMC Neurol. 2016; 16:138.
PMID: 27530735
PMC: 4988042.
DOI: 10.1186/s12883-016-0664-6.
Population-based incidence and prevalence of facioscapulohumeral dystrophy.
Deenen J, Arnts H, van der Maarel S, Padberg G, Verschuuren J, Bakker E
Neurology. 2014; 83(12):1056-9.
PMID: 25122204
PMC: 4166358.
DOI: 10.1212/WNL.0000000000000797.
Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR).
Roy A, Van den Bergh P, Van Damme P, Doggen K, Van Casteren V
Acta Neurol Belg. 2014; 115(2):97-104.
PMID: 24957677
PMC: 4438257.
DOI: 10.1007/s13760-014-0320-0.
Scleroderma-polymyositis overlap syndrome versus idiopathic polymyositis and systemic sclerosis: a descriptive study on clinical features and myopathology.
Bhansing K, Lammens M, Knaapen H, van Riel P, van Engelen B, Vonk M
Arthritis Res Ther. 2014; 16(3):R111.
PMID: 24886750
PMC: 4060195.
DOI: 10.1186/ar4562.
Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational.
McCormack P, Woods S, Aartsma-Rus A, Hagger L, Herczegfalvi A, Heslop E
PLoS Curr. 2013; 5.
PMID: 23330068
PMC: 3544553.
DOI: 10.1371/currents.md.f90b49429fa814bd26c5b22b13d773ec.
Effects of shared medical appointments on quality of life and cost-effectiveness for patients with a chronic neuromuscular disease. Study protocol of a randomized controlled trial.
Seesing F, Drost G, van der Wilt G, van Engelen B
BMC Neurol. 2011; 11:106.
PMID: 21861909
PMC: 3178478.
DOI: 10.1186/1471-2377-11-106.
High disease impact of myotonic dystrophy type 2 on physical and mental functioning.
Tieleman A, Jenks K, Kalkman J, Borm G, van Engelen B
J Neurol. 2011; 258(10):1820-6.
PMID: 21461958
PMC: 3184219.
DOI: 10.1007/s00415-011-6027-8.
Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.
Coenen M, Tieleman A, Schijvenaars M, Leferink M, Ranum L, Scheffer H
Eur J Hum Genet. 2011; 19(5):567-70.
PMID: 21224892
PMC: 3083617.
DOI: 10.1038/ejhg.2010.233.
Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trial.
Voet N, Bleijenberg G, Padberg G, van Engelen B, Geurts A
BMC Neurol. 2010; 10:56.
PMID: 20591139
PMC: 2906431.
DOI: 10.1186/1471-2377-10-56.