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Jonson, Per Harald
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1

Revealing myopathy spectrum: integrating transcriptional an..:

Zhong, Huahua ; Sian, Veronica ; Johari, Mridul...
Communications Biology.  7 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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2

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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

Neuromuscular Diseases Due to Chaperone Mutations: A Review..:

Sarparanta, Jaakko ; Jonson, Per Harald ; Kawan, Sabita.
International Journal of Molecular Sciences.  21 (2020)  4 - p. 1409 , 2020
Link: https://doi.org/10.3390/..
 
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8

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/..
 
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9

234th ENMC International Workshop: Chaperone dysfunction in..:

Weihl, Conrad C. ; Udd, Bjarne ; Hanna, Michael...
Neuromuscular Disorders.  28 (2018)  12 - p. 1022-1030 , 2018
Link: https://doi.org/10.1016/..
 
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10

The complexity of titin splicing pattern in human adult ske..:

Savarese, Marco ; Jonson, Per Harald ; Huovinen, Sanna...
Skeletal Muscle.  8 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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11

Targeted Next-Generation Sequencing Reveals Novel TTN Mutat..:

Evilä, Anni ; Palmio, Johanna ; Vihola, Anna...
Molecular Neurobiology.  54 (2016)  9 - p. 7212-7223 , 2016
Link: https://doi.org/10.1007/..
 
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12

CAPN3-mediated processing of C-terminal titin replaced by p..:

Charton, Karine ; Sarparanta, Jaakko ; Vihola, Anna...
Human Molecular Genetics.  24 (2015)  13 - p. 3718-3731 , 2015
Link: https://doi.org/10.1093/..
 
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13

Novel mutations in DNAJB6 gene cause a very severe early-on..:

Palmio, Johanna ; Jonson, Per Harald ; Evilä, Anni...
Neuromuscular Disorders.  25 (2015)  11 - p. 835-842 , 2015
Link: https://doi.org/10.1016/..
 
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14

Gene Expression Profiling in Tibial Muscular Dystrophy Reve..:

Screen, Mark ; Raheem, Olayinka ; Holmlund-Hampf, Jeanette...
PLoS ONE.  9 (2014)  3 - p. e90819 , 2014
Link: https://doi.org/10.1371/..
 
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15

Abnormal Splicing of NEDD4 in Myotonic Dystrophy Type 2:

Screen, Mark ; Jonson, Per Harald ; Raheem, Olayinka...
The American Journal of Pathology.  184 (2014)  8 - p. 2322-2332 , 2014
Link: https://doi.org/10.1016/..
 
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