E-LIB Suche - Ergebnisse für: Ilkovski, Biljana

1

Mutations inPIGY: expanding the phenotype of inherited glyc..:

Ilkovski, Biljana ; Pagnamenta, Alistair T. ; O'Grady, Gina L....
Human Molecular Genetics. 24 (2015) 21 - p. 6146-6159 , 2015

Link: https://doi.org/10.1093/..

2

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/..

3

K7del is a common TPM2 gene mutation associated with nemali..:

Mokbel, Nancy ; Ilkovski, Biljana ; Kreissl, Michaela...
Brain. 136 (2013) 2 - p. 494-507 , 2013

Link: https://doi.org/10.1093/..

4

Expanding the clinical, pathological and MRI phenotype of D..:

Susman, Rachel D. ; Quijano-Roy, Susana ; Yang, Nan...
Neuromuscular Disorders. 20 (2010) 4 - p. 229-237 , 2010

Link: https://doi.org/10.1016/..

5

In Vitro Analysis of Rod Composition and Actin Dynamics in ..:

Vandebrouck, Aurélie ; Domazetovska, Ana ; Mokbel, Nancy...
Journal of Neuropathology & Experimental Neurology. 69 (2010) 5 - p. 429-441 , 2010

Link: https://doi.org/10.1097/..

6

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Fa..:

Sambuughin, Nyamkhishig ; Yau, Kyle S. ; Olivé, Montse...
The American Journal of Human Genetics. 87 (2010) 6 - p. 842-847 , 2010

Link: https://doi.org/10.1016/..

7

Disease Severity and Thin Filament Regulation in M9RTPM3Nem..:

Ilkovski, Biljana ; Mokbel, Nancy ; Lewis, Raymond A....
Journal of Neuropathology & Experimental Neurology. 67 (2008) 9 - p. 867-877 , 2008

Link: https://doi.org/10.1097/..

8

Intranuclear rod myopathy: molecular pathogenesis and mecha..:

Domazetovska, Ana ; Ilkovski, Biljana ; Kumar, Vikash...
Annals of Neurology. 62 (2007) 6 - p. 597-608 , 2007

Link: https://doi.org/10.1002/..

9

The pathogenesis of ACTA1‐related congenital fiber type dis..:

Clarke, Nigel F. ; Ilkovski, Biljana ; Cooper, Sandra...
Annals of Neurology. 61 (2007) 6 - p. 552-561 , 2007

Link: https://doi.org/10.1002/..

10

Tropomyosin 4 defines novel filaments in skeletal muscle as..:

Vlahovich, Nicole ; Schevzov, Galina ; Nair‐Shaliker, Visalini...
Cell Motility. 65 (2007) 1 - p. 73-85 , 2007

Link: https://doi.org/10.1002/..

11

Autosomal dominant nemaline myopathy with intranuclear rods..:

Hutchinson, David O. ; Charlton, Amanda ; Laing, Nigel G...
Neuromuscular Disorders. 16 (2006) 2 - p. 113-121 , 2006

Link: https://doi.org/10.1016/..

12

Defining α-skeletal and α-cardiac actin expression in human..:

Ilkovski, Biljana ; Clement, Sophie ; Sewry, Caroline..
Neuromuscular Disorders. 15 (2005) 12 - p. 829-835 , 2005

Link: https://doi.org/10.1016/..

13

A novel in vitro co‐culture system for the study of materna..:

Gallery, Eileen D.M. ; Campbell, Suzanne ; Ilkovski, Biljana..
BJOG: An International Journal of Obstetrics & Gynaecology. 108 (2001) 6 - p. 651-653 , 2001

Link: https://doi.org/10.1111/..

14

Leiomodin-3 dysfunction results in thin filament disorganiz..:

Yuen, Michaele ; Sandaradura, Sarah A ; Dowling, James J...
10.1172/JCI75199. , 2018

Link: http://hdl.handle.net/10..

15

Variants In The Oxidoreductase Pyroxd1 Cause Early-Onset My..:

O'Grady, Gina L ; Best, Heather A ; Sztal, Tamar E...
10.1016/j.ajhg.2016.09.005. , 2016

Link: http://hdl.handle.net/11..