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Vihola, A.
103
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1
Bi-allelic loss-of-function OBSCN variants predispose indiv..:
Cabrera-Serrano, M
;
Caccavelli, L
;
Savarese, M
...
https://discovery.ucl.ac.uk/id/eprint/10141366/1/awab484.pdf. , 2022
Link:
https://discovery.ucl.ac..
?
2
Recurrent TTN metatranscript-only c.39974-11T>G splice vari..:
Bryen, S. J
;
Ewans, L. J
;
Pinner, J
...
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31660661/. , 2021
Link:
https://hdl.handle.net/1..
?
3
Missense mutations in small muscle protein X-linked (SMPX) ..:
Johari M
;
Sarparanta J
;
Vihola A
...
info:eu-repo/semantics/altIdentifier/pmid/33974137. , 2021
Link:
http://hdl.handle.net/24..
?
4
Recurrent TTN metatranscript-only c.39974-11T>G splice vari..:
Bryen, S. J
;
Ewans, L. J
;
Pinner, J
...
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31660661/. , 2021
Link:
https://doi.org/10.1002/..
?
5
Panorama of the distal myopathies:
Savarese, M
;
Sarparanta, J
;
Vihola, A
...
10.36185/2532-1900-028. , 2021
Link:
http://hdl.handle.net/10..
?
6
Diagnostic anoctamin-5 protein defect in patients with ANO5..:
Vihola, A
;
Luque, H
;
Savarese, M
...
1365-2990. , 2018
Link:
https://trepo.tuni.fi/ha..
?
7
Interpreting Genetic Variants in Titin in Patients With Mus..:
M. Savarese
;
L. Maggi
;
A. Vihola
...
info:eu-repo/semantics/altIdentifier/pmid/29435569. , 2018
Link:
http://hdl.handle.net/24..
?
8
Histopathological differences of myotonic dystrophy type 1 ..:
A. Vihola
;
G. Bassez
;
S. Zhang
...
info:eu-repo/semantics/altIdentifier/pmid/12796551. , 2003
Link:
http://hdl.handle.net/24..
?
9
Extension of the DNAJB2a isoform in a dominant neuromyopath..:
Sarparanta, Jaakko
;
Jonson, Per Harald
;
Reimann, Jens
...
10.1093/hmg/ddad058. , 2023
Link:
http://hdl.handle.net/10..
?
10
HSPB8 frameshift mutant aggregates weaken chaperone-assiste..:
Tedesco, Barbara
;
Vendredy, Leen
;
Adriaenssens, Elias
...
info:eu-repo/semantics/altIdentifier/pmid/36854646. , 2023
Link:
https://hdl.handle.net/2..
?
11
HSPB8 frameshift mutant aggregates weaken chaperone-assiste..:
Tedesco, Barbara
;
Vendredy, Leen
;
Adriaenssens, Elias
...
8. , 2023
Link:
https://trepo.tuni.fi/ha..
?
12
Bi-allelic loss-of-function OBSCN variants predispose indiv..:
Cabrera-Serrano, Macarena
;
Caccavelli, Laure
;
Savarese, Marco
...
10.1093/brain/awab484. , 2023
Link:
http://hdl.handle.net/10..
?
13
Extension of the DNAJB2a isoform in a dominant neuromyopath..:
Sarparanta, Jaakko
;
Jonson, Per Harald
;
Reimann, Jens
...
21. , 2023
Link:
https://trepo.tuni.fi/ha..
?
14
HSPB8 frameshift mutant aggregates weaken chaperone-assiste..:
Tedesco, Barbara
;
Vendredy, Leen
;
Adriaenssens, Elias
...
10.1080/15548627.2023.2179780. , 2023
Link:
http://hdl.handle.net/10..
?
15
Comprehensive transcriptomic analysis shows disturbed calci..:
Johari, Mridul
;
Vihola, Anna
;
Palmio, Johanna
...
10.1007/s00415-022-11029-7. , 2022
Link:
http://hdl.handle.net/10..
1-15