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Zaharieva, Irina T.
96
results:
Search for persons
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Online (96)
Mediatypes
Articles (Online) (56)
Bookchapter (Online) (2)
OpenAccess-fulltext (38)
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?
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
CIAO1 loss of function causes a neuromuscular disorder with..:
Maio, Nunziata
;
Orbach, Rotem
;
Zaharieva, Irina T.
...
Journal of Clinical Investigation. 134 (2024) 12 - p. , 2024
Link:
https://doi.org/10.1172/..
?
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
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/..
?
5
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/..
?
6
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/..
?
7
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/..
?
8
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/..
?
9
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/..
?
10
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/..
?
11
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..
?
12
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...
?
13
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..
?
14
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..
?
15
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..
1-15