E-LIB Suche - Ergebnisse für: Zaharieva, Irina T.

1

Digenic inheritance involving a muscle-specific protein kin..:

Töpf, Ana ; Cox, Dan ; Zaharieva, Irina T....
Nature Genetics. 56 (2024) 3 - p. 395-407 , 2024

Link: https://doi.org/10.1038/..

2

Recessive variants inCOL25A1gene as novel cause of arthrogr..:

Natera‐de Benito, Daniel ; Jurgens, Julie A. ; Yeung, Alison...
Human Mutation. 43 (2022) 4 - p. 487-498 , 2022

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

3

Heterozygous frameshift variants in HNRNPA2B1 cause early-o..:

Kim, Hong Joo ; Mohassel, Payam ; Donkervoort, Sandra...
Nature Communications. 13 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

4

Response of plasma microRNAs to nusinersen treatment in pat..:

Zaharieva, Irina T. ; Scoto, Mariacristina ; Aragon‐Gawinska, Karolina...
Annals of Clinical and Translational Neurology. 9 (2022) 7 - p. 1011-1026 , 2022

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

5

STAC3variants cause a congenital myopathy with distinctive ..:

Zaharieva, Irina T. ; Sarkozy, Anna ; Munot, Pinki...
Human Mutation. 39 (2018) 12 - p. 1980-1994 , 2018

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

6

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopath:

Schartner, Vanessa ; Romero, Norma B. ; Donkervoort, Sandra...
Acta Neuropathologica. 133 (2016) 4 - p. 517-533 , 2016

Link: https://doi.org/10.1007/..

7

Loss-of-function mutations inSCN4Acause severe foetal hypok..:

Zaharieva, Irina T. ; Thor, Michael G. ; Oates, Emily C....
Brain. 139 (2015) 3 - p. 674-691 , 2015

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

8

Dystromirs as Serum Biomarkers for Monitoring the Disease S..:

Zaharieva, Irina T. ; Calissano, Mattia ; Scoto, Mariacristina...
PLoS ONE. 8 (2013) 11 - p. e80263 , 2013

Link: https://doi.org/10.1371/..

9

Case–control association study of 59 candidate genes reveal..:

Betcheva, Elitza T ; Mushiroda, Taisei ; Takahashi, Atsushi...
Journal of Human Genetics. 54 (2009) 2 - p. 98-107 , 2009

Link: https://doi.org/10.1038/..

10

Recessive variants in COL25A1 gene as novel cause of arthro..:

Natera-de Benito, Daniel ; Jurgens, Julie A ; Yeung, Alison...
https://discovery.ucl.ac.uk/id/eprint/10145932/1/Zaharieva_Manuscript%20COL25A1-Natera%20et%20al%20for%20Hum%20Mutation%20Jan%202022.pdf. , 2022

Link: https://discovery.ucl.ac..

11

Response of plasma microRNAs to nusinersen treatment in pat..:

Zaharieva, Irina T ; Scoto, Mariacristina ; Aragon‐Gawinska, Karolina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9268869/. , 2022

Link: http://www.ncbi.nlm.nih...

12

Heterozygous frameshift variants in HNRNPA2B1 cause early-o..:

Kim, Hong Joo ; Mohassel, Payam ; Donkervoort, Sandra...
https://discovery.ucl.ac.uk/id/eprint/10147964/1/s41467-022-30015-1.pdf. , 2022

Link: https://discovery.ucl.ac..

13

Response of plasma microRNAs to nusinersen treatment in pat..:

Zaharieva, Irina T ; Scoto, Mariacristina ; Aragon-Gawinska, Karolina...
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51579. , 2022

Link: https://orbi.uliege.be/h..

14

Heterozygous frameshift variants in HNRNPA2B1 cause early-o..:

Kim, Hong Joo ; Mohassel, Payam ; Donkervoort, Sandra...
https://jdc.jefferson.edu/bmpfp/216. , 2022

Link: https://jdc.jefferson.ed..

15

Response of plasma microRNAs to nusinersen treatment in pat..:

Zaharieva, Irina T ; Scoto, Mariacristina ; Aragon‐Gawinska, Karolina...
https://discovery.ucl.ac.uk/id/eprint/10149068/1/2022-Ann%20Clin%20Transl%20Neurol%20-%20Zaharieva.pdf. , 2022

Link: https://discovery.ucl.ac..