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Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.
Published in:
2021
By:
- Bouman, Karlijn;
- Groothuis, Jan T.;
- Doorduin, Jonne;
- van Alfen, Nens;
- Udink ten Cate, Floris E. A.;
- van den Heuvel, Frederik M. A.;
- Nijveldt, Robin;
- van Tilburg, Willem C. M.;
- Buckens, Stan C. F. M.;
- Dittrich, Anne T. M.;
- Draaisma, Jos M. T.;
- Janssen, Mirian C. H.;
- Kamsteeg, Erik-Jan;
- van Kleef, Esmee S. B.;
- Koene, Saskia;
- Smeitink, Jan A. M.;
- Küsters, Benno;
- van Tienen, Florence H. J.;
- Smeets, Hubert J. M.;
- van Engelen, Baziel G. M.
Publication type:
journal article
Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 919, doi. 10.3233/JND-230190
By:
- Bouman, Karlijn;
- van den Heuvel, Frederik M.A.;
- Evertz, Reinder;
- Boesaard, Ewout;
- Groothuis, Jan T.;
- van Engelen, Baziel G.M.;
- Nijveldt, Robin;
- Erasmus, Corrie E.;
- Udink ten Cate, Floris E.A.;
- Voermans, Nicol C.
Publication type:
Article
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 6, p. 1055, doi. 10.3233/JND-221673
By:
- Bouman, Karlijn;
- Groothuis, Jan T.;
- Doorduin, Jonne;
- van Alfen, Nens;
- Udink ten Cate, Floris E.A.;
- van den Heuvel, Frederik M.A.;
- Nijveldt, Robin;
- Kamsteeg, Erik-Jan;
- Dittrich, Anne T.M.;
- Draaisma, Jos M.T.;
- Janssen, Mirian C.H.;
- van Engelen, Baziel G.M.;
- Erasmus, Corrie E.;
- Voermans, Nicol C.
Publication type:
Article
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 1, doi. 10.3233/JND-221543
By:
- Bouman, Karlijn;
- Dittrich, Anne T.M.;
- Groothuis, Jan T.;
- van Engelen, Baziel G.M.;
- Janssen, Mirian C.H.;
- Voermans, Nicol C.;
- Draaisma, Jos M.T.;
- Erasmus, Corrie E.
Publication type:
Article
Diagnosis, Follow-Up and Therapy for Secondary Osteoporosis in Vulnerable Children: A Narrative Review.
Published in:
Applied Sciences (2076-3417), 2023, v. 13, n. 7, p. 4491, doi. 10.3390/app13074491
By:
- Dittrich, Anne T. M.;
- Janssen, Etienne J. M.;
- Geelen, Joyce;
- Bouman, Karlijn;
- Ward, Leanne M.;
- Draaisma, Jos M. T.
Publication type:
Article
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 692, doi. 10.1111/cge.14054
By:
- Reumers, Stacha F. I.;
- Erasmus, Corrie E.;
- Bouman, Karlijn;
- Pennings, Maartje;
- Schouten, Meyke;
- Kusters, Benno;
- Duijkers, Floor A. M.;
- van der Kooi, Anneke;
- Jaeger, Bregje;
- Verschuuren‐Bemelmans, Corien C.;
- Faber, Catharina G.;
- van Engelen, Baziel G.;
- Kamsteeg, Erik‐Jan;
- Jungbluth, Heinz;
- Voermans, Nicol C.
Publication type:
Article
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies.
Published in:
Brain Communications, 2022, v. 4, n. 5, p. 1, doi. 10.1093/braincomms/fcac224
By:
- Bachmann, Christoph;
- Franchini, Martina;
- Van den Bersselaar, Luuk R.;
- Kruijt, Nick;
- Voermans, Nicol C.;
- Bouman, Karlijn;
- Kamsteeg, Erik-Jan;
- Knop, Karl Christian;
- Ruggiero, Lucia;
- Santoro, Lucio;
- Nevo, Yoram;
- Wilmshurst, Jo;
- Vissing, John;
- Sinnreich, Michael;
- Zorzato, Daniele;
- Muntoni, Francesco;
- Jungbluth, Heinz;
- Zorzato, Francesco;
- Treves, Susan
Publication type:
Article
KBTBD13 is a novel cardiomyopathy gene.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1860, doi. 10.1002/humu.24499
By:
- de Winter, Josine M.;
- Bouman, Karlijn;
- Strom, Joshua;
- Methawasin, Mei;
- Jongbloed, Jan D. H.;
- van der Roest, Wilma;
- Wijngaarden, Jan van;
- Timmermans, Janneke;
- Nijveldt, Robin;
- van den Heuvel, Frederik;
- Kamsteeg, Erik‐Jan;
- van Engelen, Baziel G.;
- Galli, Ricardo;
- Bogaards, Sylvia J. P.;
- Boon, Reinier A.;
- van der Pijl, Robbert J.;
- Granzier, Henk;
- Koeleman, Bobby;
- Amin, Ahmad S.;
- van der Velden, Jolanda
Publication type:
Article
Publisher Correction: Tubular iron deposition and iron handling proteins in human healthy kidney and chronic kidney disease.
Published in:
Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-31457-8
By:
- van Raaij, Sanne;
- van Swelm, Rachel;
- Bouman, Karlijn;
- Cliteur, Maaike;
- van den Heuvel, Marius C.;
- Pertijs, Jeanne;
- Patel, Dominic;
- Bass, Paul;
- van Goor, Harry;
- Unwin, Robert;
- Srai, Surjit Kaila;
- Swinkels, Dorine
Publication type:
Article

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