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de Winter, Josine M.
~ 200  Ergebnisse:
Personensuche X
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1

KBTBD13is a novel cardiomyopathy gene:

de Winter, Josine M. ; Bouman, Karlijn ; Strom, Joshua...
Human Mutation.  43 (2022)  12 - p. 1860-1865 , 2022
Link: https://doi.org/10.1002/..
 
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2

NEM6, KBTBD13-Related Congenital Myopathy: Myopathological ..:

Bouman, Karlijn ; Küsters, Benno ; De Winter, Josine M...
Journal of Neuropathology & Experimental Neurology.  80 (2021)  4 - p. 366-376 , 2021
Link: https://doi.org/10.1093/..
 
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3

Troponin Variants in Congenital Myopathies: How They Affect..:

van de Locht, Martijn ; Borsboom, Tamara C. ; Winter, Josine M..
International Journal of Molecular Sciences.  22 (2021)  17 - p. 9187 , 2021
Link: https://doi.org/10.3390/..
 
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4

Acute and chronic tirasemtiv treatment improves in vivo and..:

de Winter, Josine M ; Gineste, Charlotte ; Minardi, Elisa...
Human Molecular Genetics.  30 (2021)  14 - p. 1305-1320 , 2021
Link: https://doi.org/10.1093/..
 
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5

Isolating Myofibrils from Skeletal Muscle Biopsies and Dete.. 

JoVE : Biology
van de Locht, Martijn ; de Winter, Josine M. ; Rassier, Dilson E... , 2020
Link: https://www.jove.com/t/6..
 
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6

Recessive MYH7-related myopathy in two families:

Beecroft, Sarah J. ; van de Locht, Martijn ; de Winter, Josine M....
Neuromuscular Disorders.  29 (2019)  6 - p. 456-467 , 2019
Link: https://doi.org/10.1016/..
 
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7

Sarcomere Dysfunction in Nemaline Myopathy:

de Winter, Josine M. ; Ottenheijm, Coen A.C.
Journal of Neuromuscular Diseases.  4 (2017)  2 - p. 99-113 , 2017
Link: https://doi.org/10.3233/..
 
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8

Muscle weakness in respiratory and peripheral skeletal musc..:

Joureau, Barbara ; de Winter, Josine M. ; Stam, Kelly..
Neuromuscular Disorders.  27 (2017)  1 - p. 83-89 , 2017
Link: https://doi.org/10.1016/..
 
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9

Mutation‐specific effects on thin filament length in thin f..:

Winter, Josine M. de ; Joureau, Barbara ; Lee, Eun‐Jeong...
Annals of Neurology.  79 (2016)  6 - p. 959-969 , 2016
Link: https://doi.org/10.1002/..
 
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10

TPM3 deletions cause a hypercontractile congenital muscle s..:

Donkervoort, Sandra ; Papadaki, Maria ; de Winter, Josine M....
Annals of Neurology.  78 (2015)  6 - p. 982-994 , 2015
Link: https://doi.org/10.1002/..
 
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11

Muscle weakness inTPM3-myopathy is due to reduced Ca2+-sens..:

Yuen, Michaela ; Cooper, Sandra T. ; Marston, Steve B....
Human Molecular Genetics.  24 (2015)  22 - p. 6278-6292 , 2015
Link: https://doi.org/10.1093/..
 
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12

Effect of levosimendan on the contractility of muscle fiber..:

de Winter, Josine M ; Joureau, Barbara ; Sequeira, Vasco...
Skeletal Muscle.  5 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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13

Muscle histopathology in nebulin-related nemaline myopathy:..:

Malfatti, Edoardo ; Lehtokari, Vilma-Lotta ; Böhm, Johann...
Acta Neuropathologica Communications.  2 (2014)  1 - p. , 2014
Link: https://doi.org/10.1186/..
 
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14

Fast Skeletal Muscle Troponin Activation Increases Force of..:

Lee, Eun-Jeong ; De Winter, Josine M. ; Buck, Danielle...
PLoS ONE.  8 (2013)  2 - p. e55861 , 2013
Link: https://doi.org/10.1371/..
 
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15

Deleting exon 55 from the nebulin gene induces severe muscl..:

Ottenheijm, Coen A. C. ; Buck, Danielle ; de Winter, Josine M....
Brain.  136 (2013)  6 - p. 1718-1731 , 2013
Link: https://doi.org/10.1093/..
 
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