Patrick J van der Vliet
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Explore the profile of Patrick J van der Vliet including associated specialties, affiliations and a list of published articles.
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32
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1615
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Recent Articles
1.
Puma A, Tammam G, Ezaru A, Slioui A, Torchia E, Tasca G, et al.
Eur J Hum Genet
. 2025 Jan;
PMID: 39775061
Facioscapulohumeral dystrophy type 1 (FSHD1) displays prominent intra- and interfamilial variability, which complicates the phenotype-genotype correlation. In this retrospective study, we investigated FSHD1 patients classified as category D according to...
2.
Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy
Franken M, van der Wal E, Zheng D, den Hamer B, van der Vliet P, Lemmers R, et al.
Brain
. 2024 Nov;
PMID: 39556762
Facioscapulohumeral muscular dystrophy (FSHD) is caused by sporadic misexpression of the transcription factor double homeobox 4 (DUX4) in skeletal muscles. So far, monolayer cultures and animal models have been used...
3.
Giardina E, Camano P, Burton-Jones S, Ravenscroft G, Henning F, Magdinier F, et al.
Clin Genet
. 2024 Apr;
106(1):13-26.
PMID: 38685133
The gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. With the increasing complexity of the genetics of FSHD1 and 2, the increase of genetic...
4.
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India
Vishnu V, Lemmers R, Reyaz A, Mishra R, Ahmad T, van der Vliet P, et al.
Eur J Hum Genet
. 2024 Apr;
32(9):1053-1064.
PMID: 38664571
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of hereditary myopathy. Sixty per cent of the world's population lives in Asia, so a significant percentage of the world's...
5.
Efthymiou S, Lemmers R, Vishnu V, Dominik N, Perrone B, Facchini S, et al.
Biomolecules
. 2023 Nov;
13(11.
PMID: 38002249
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common muscular dystrophy in adults, and it is associated with local D4Z4 chromatin relaxation, mostly via the contraction of the D4Z4 macrosatellite...
6.
Lemmers R, Butterfield R, van der Vliet P, De Bleecker J, van der Pol L, Dunn D, et al.
Brain
. 2023 Sep;
147(2):414-426.
PMID: 37703328
Facioscapulohumeral dystrophy (FSHD) has a unique genetic aetiology resulting in partial chromatin relaxation of the D4Z4 macrosatellite repeat array on 4qter. This D4Z4 chromatin relaxation facilitates inappropriate expression of the...
7.
Smith A, Nip Y, Bennett S, Hamm D, Lemmers R, van der Vliet P, et al.
Cell Rep
. 2023 Sep;
42(9):113114.
PMID: 37691147
The transcription factor DUX4 regulates a portion of the zygotic gene activation (ZGA) program in the early embryo. Many cancers express DUX4 but it is unknown whether this generates cells...
8.
Wilson L, Macken W, Perry L, Record C, Schon K, Frezatti R, et al.
Brain
. 2023 Jul;
146(12):5098-5109.
PMID: 37516995
Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle...
9.
Lemmers R, van der Vliet P, San Leon Granado D, van der Stoep N, Buermans H, van Schendel R, et al.
Hum Mol Genet
. 2021 Sep;
31(5):748-760.
PMID: 34559225
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited myopathy clinically characterized by weakness in the facial, shoulder girdle and upper a muscles. FSHD is caused by chromatin relaxation of the D4Z4...
10.
Lemmers R, van der Vliet P, Blatnik A, Balog J, Zidar J, Henderson D, et al.
J Med Genet
. 2021 Jan;
59(2):180-188.
PMID: 33436523
Background: Facioscapulohumeral dystrophy (FSHD) is an inherited muscular dystrophy clinically characterised by muscle weakness starting with the facial and upper extremity muscles. A disease model has been developed that postulates...