E-LIB Suche - Ergebnisse für: Jonson, P.

1

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/..

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

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/..

4

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/..

5

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/..

6

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/..

7

P.151 - ABSTRACT WITHDRAWN Myopathy caused by mutations in ..: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/..

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

NEW GENES IN NEUROMUSCULAR DISEASES:

Johari, M. ; Savarese, M. ; Vihola, A....
Neuromuscular Disorders. 30 (2020) - p. S46 , 2020

Link: https://doi.org/10.1016/..

11

HEREDITARY NEUROPATHIES & ALS:

Sarparanta, J. ; Jonson, P. ; Vihola, A....
Neuromuscular Disorders. 30 (2020) - p. S79-S80 , 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.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/..

14

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/..

15

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/..