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Vihola, Anna
91
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Online (91)
Mediatypes
Articles (Online) (34)
OpenAccess-fulltext (57)
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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
HSPB8 frameshift mutant aggregates weaken chaperone-assiste..:
Tedesco, Barbara
;
Vendredy, Leen
;
Adriaenssens, Elias
...
Autophagy. 19 (2023) 8 - p. 2217-2239 , 2023
Link:
https://doi.org/10.1080/..
?
3
CACNA1SVariant Associated With a Myalgic Myopathy Phenotype:
Periviita, Vesa
;
Palmio, Johanna
;
Jokela, Manu
...
Neurology. 101 (2023) 18 - p. , 2023
Link:
https://doi.org/10.1212/..
?
4
Extension of the DNAJB2a isoform in a dominant neuromyopath..:
Sarparanta, Jaakko
;
Jonson, Per Harald
;
Reimann, Jens
...
Human Molecular Genetics. 32 (2023) 21 - p. 3029-3039 , 2023
Link:
https://doi.org/10.1093/..
?
5
Comprehensive transcriptomic analysis shows disturbed calci..:
Johari, Mridul
;
Vihola, Anna
;
Palmio, Johanna
...
Journal of Neurology. 269 (2022) 8 - p. 4161-4173 , 2022
Link:
https://doi.org/10.1007/..
?
6
Missense mutations in small muscle protein X-linked (SMPX) ..:
Johari, Mridul
;
Sarparanta, Jaakko
;
Vihola, Anna
...
Acta Neuropathologica. 142 (2021) 2 - p. 375-393 , 2021
Link:
https://doi.org/10.1007/..
?
7
Bi-allelic loss-of-function OBSCN variants predispose indiv..:
Cabrera-Serrano, Macarena
;
Caccavelli, Laure
;
Savarese, Marco
...
Brain. 145 (2021) 11 - p. 3985-3998 , 2021
Link:
https://doi.org/10.1093/..
?
8
Congenital asymmetric distal myopathy with hemifacial weakn..:
Sagath, Lydia
;
Lehtokari, Vilma-Lotta
;
Välipakka, Salla
...
Neuromuscular Disorders. 31 (2021) 6 - p. 539-545 , 2021
Link:
https://doi.org/10.1016/..
?
9
Mutations in the J domain of DNAJB6 cause dominant distal m..:
Palmio, Johanna
;
Jonson, Per Harald
;
Inoue, Michio
...
Neuromuscular Disorders. 30 (2020) 1 - p. 38-46 , 2020
Link:
https://doi.org/10.1016/..
?
10
Genotype–phenotype correlations in recessive titinopathies:
Savarese, Marco
;
Vihola, Anna
;
Oates, Emily C.
...
Genetics in Medicine. 22 (2020) 12 - p. 2029-2040 , 2020
Link:
https://doi.org/10.1038/..
?
11
Actininopathy: A new muscular dystrophy caused by ACTN2 dom..:
Savarese, Marco
;
Palmio, Johanna
;
Poza, Juan José
...
Annals of Neurology. 85 (2019) 6 - p. 899-906 , 2019
Link:
https://doi.org/10.1002/..
?
12
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf..:
Jokela, Manu
;
Tasca, Giorgio
;
Vihola, Anna
...
Neurology. 92 (2019) 14 - p. , 2019
Link:
https://doi.org/10.1212/..
?
13
RecurrentTTNmetatranscript‐only c.39974–11T>G splice varian..:
Bryen, Samantha J.
;
Ewans, Lisa J.
;
Pinner, Jason
...
Human Mutation. 41 (2019) 2 - p. 403-411 , 2019
Link:
https://doi.org/10.1002/..
?
14
A novel COL6A2 mutation causing late-onset limb-girdle musc..:
Jokela, Manu
;
Lehtinen, Sara
;
Palmio, Johanna
...
Journal of Neurology. 266 (2019) 7 - p. 1649-1654 , 2019
Link:
https://doi.org/10.1007/..
?
15
Loss of MICOS complex integrity and mitochondrial damage, b..:
Genin, Emmanuelle C.
;
Bannwarth, Sylvie
;
Lespinasse, Françoise
...
Neurobiology of Disease. 119 (2018) - p. 159-171 , 2018
Link:
https://doi.org/10.1016/..
1-15