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Jonson, P.
293
results:
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1
P165 Rare ACTN2 frameshift variants resulting in a protein ..:
Ranta-Aho, J.
;
Jonson, P.
;
Sarparanta, J.
...
Neuromuscular Disorders. 33 (2023) - p. S141 , 2023
Link:
https://doi.org/10.1016/..
?
2
P164 Development of a myotube model for C-terminal titin st..:
Sarparanta, J.
;
Jonson, P.
;
Luque, H.
...
Neuromuscular Disorders. 33 (2023) - p. S140-S141 , 2023
Link:
https://doi.org/10.1016/..
?
3
P162 Welander distal myopathy caused by genomic deletion in..:
Jonson, P.
;
Sarparanta, J.
;
Rusanen, S.
...
Neuromuscular Disorders. 33 (2023) - p. S140 , 2023
Link:
https://doi.org/10.1016/..
?
4
P184 Revealing myopathy spectrum: integrating transcription..:
Zhong, H.
;
Johari, M.
;
Katayama, S.
...
Neuromuscular Disorders. 33 (2023) - p. S111 , 2023
Link:
https://doi.org/10.1016/..
?
5
P.157 Dominant HSPB6 mutation in a myopathy patient:
Sarparanta, J.
;
Jonson, P.
;
Vihola, A.
...
Neuromuscular Disorders. 32 (2022) - p. S110-S111 , 2022
Link:
https://doi.org/10.1016/..
?
6
P.151 - ABSTRACT WITHDRAWN Myopathy caused by mutations in ..:
Hackman, P.
;
Välipakka, S.
;
Jonson, P.
...
Neuromuscular Disorders. 32 (2022) - p. S109 , 2022
Link:
https://doi.org/10.1016/..
?
7
P.154 A novel TIA1 frameshift variant in a dominant myopath..:
Sarparanta, J.
;
Jonson, P.
;
Vihola, A.
...
Neuromuscular Disorders. 32 (2022) - p. S110 , 2022
Link:
https://doi.org/10.1016/..
?
8
DISTAL MYOPATHIES:
Sarparanta, J.
;
Jonson, P.
;
Luque, H.
..
Neuromuscular Disorders. 31 (2021) - p. S71 , 2021
Link:
https://doi.org/10.1016/..
?
9
DISTAL MYOPATHIES:
Johari, M.
;
Rusanen, S.
;
Savarese, M.
...
Neuromuscular Disorders. 31 (2021) - p. S72 , 2021
Link:
https://doi.org/10.1016/..
?
10
HEREDITARY NEUROPATHIES & ALS:
Sarparanta, J.
;
Jonson, P.
;
Vihola, A.
...
Neuromuscular Disorders. 30 (2020) - p. S79-S80 , 2020
Link:
https://doi.org/10.1016/..
?
11
NEW GENES IN NEUROMUSCULAR DISEASES:
Johari, M.
;
Savarese, M.
;
Vihola, A.
...
Neuromuscular Disorders. 30 (2020) - p. S46 , 2020
Link:
https://doi.org/10.1016/..
?
12
NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES:
Johari, M.
;
Savarese, M.
;
Jonson, P.
...
Neuromuscular Disorders. 30 (2020) - p. S143 , 2020
Link:
https://doi.org/10.1016/..
?
13
P.293Novel splicing events in skeletal muscle revealed by R..:
Jonson, P.
;
Savarese, M.
;
Johari, M.
...
Neuromuscular Disorders. 29 (2019) - p. S152 , 2019
Link:
https://doi.org/10.1016/..
?
14
P.294The use of RNAseq in research and diagnostics of neuro..:
Johari, M.
;
Savarese, M.
;
Jonson, P.
...
Neuromuscular Disorders. 29 (2019) - p. S152-S153 , 2019
Link:
https://doi.org/10.1016/..
?
15
O.20Mutations in ACTN2 gene cause a novel form of adult-ons..:
Savarese, M.
;
Palmio, J.
;
Poza, J.
...
Neuromuscular Disorders. 29 (2019) - p. S120-S121 , 2019
Link:
https://doi.org/10.1016/..
1-15