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1 . Academic Journal
Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy
저자
by
Joureau, Barbara
;
de Winter, Josine M.
;
Stam, Kelly
;
Granzier, Henk
;
Ottenheijm, Coen A.C.
.
소스
In
Neuromuscular Disorders
January 2017 27(1):83-89
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7 . Academic Journal
Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy.
저자
by
Galli, Ricardo A.
;
Borsboom, Tamara C.
;
Gineste, Charlotte
;
Brocca, Lorenza
;
Rossi, Maira
, et al.
소스
Journal of General Physiology
. Apr2024, Vol. 156 Issue 4, p1-21. 22p.
Web of Science
Scopus
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7 . Academic Journal
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
저자
by
Donkervoort, Sandra
;
van de Locht, Martijn
;
Ronchi, Dario
;
Reunert, Janine
;
McLean, Catriona A.
, et al.
소스
Science Translational Medicine; 4/3/2024, Vol. 16 Issue 741, p1-13, 13p
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7 . Periodical
A Likely Pathogenic variant in the KBTBD13Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6
저자
by
van Kleef, Esmee S.B.
;
Bouman, Karlijn
;
Molenaar, Joery P.F.
;
de Winter, Josine M.
;
Duijkers, Floor A.M.
, et al.
소스
Journal of Neuromuscular Diseases; 20240101, Issue: Preprints p1-9, 9p
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7 . Academic Journal
Small molecule drugs to improve sarcomere function in those with acquired and inherited myopathies.
저자
by
Claassen, Wout J.
;
Baelde, Rianne J.
;
Galli, Ricardo A.
;
de Winter, Josine M.
;
Ottenheijm, Coen A. C.
.
소스
American Journal of Physiology: Cell Physiology
. Jul2023, Vol. 325 Issue 1, pC60-C68. 9p.
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7 . Academic Journal
KBTBD13 is a novel cardiomyopathy gene.
저자
by
de Winter, Josine M.
;
Bouman, Karlijn
;
Strom, Joshua
;
Methawasin, Mei
;
Jongbloed, Jan D. H.
, et al.
소스
Human Mutation; Dec2022, Vol. 43 Issue 12, p1860-1865, 6p
Web of Science
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7 . Periodical
Pathogenic TNNI1variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
저자
by
Donkervoort, Sandra
;
van de Locht, Martijn
;
Ronchi, Dario
;
Reunert, Janine
;
McLean, Catriona A.
, et al.
소스
Science Translational Medicine; April 2024, Vol. 16 Issue: 741
Web of Science
Scopus
JCR 저널정보
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7 . Academic Journal
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.
저자
by
van de Locht, Martijn
;
Donkervoort, Sandra
;
de Winter, Josine M.
;
Conijn, Stefan
;
Begthel, Leon
, et al.
소스
Journal of Clinical Investigation
. 5/3/2021, Vol. 131 Issue 9, p1-16. 16p. 1 Color Photograph, 4 Diagrams, 4 Charts, 3 Graphs.
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7 . Academic Journal
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
저자
by
de Winter, Josine M.
;
Molenaar, Joery P.
;
Yuen, Michaela
;
van der Pijl, Robbert
;
Shen, Shengyi
, et al.
소스
Journal of Clinical Investigation
. Feb2020, Vol. 130 Issue 2, p754-767. 14p. 1 Diagram, 1 Chart, 6 Graphs.
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7 . Academic Journal
Recessive MYH7-related myopathy in two families.
저자
by
Beecroft, Sarah J.
;
van de Locht, Martijn
;
de Winter, Josine M.
;
Ottenheijm, Coen A.
;
Sewry, Caroline A.
, et al.
소스
Neuromuscular Disorders
. Jun2019, Vol. 29 Issue 6, p456-467. 12p.
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