E-LIB Suche - Ergebnisse für: Sarparanta, Jaakko

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

Protein‐extending ACTN2 frameshift variants cause variable ..:

Ranta‐aho, Johanna ; Felice, Kevin J. ; Jonson, Per Harald...
Annals of Clinical and Translational Neurology. , 2024

Link: https://doi.org/10.1002/..

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/..

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/..

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/..

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/..

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/..

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/..

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/..

10

Increasing Role of Titin Mutations in Neuromuscular Disorde..:

Savarese, Marco ; Sarparanta, Jaakko ; Vihola, Anna..
Journal of Neuromuscular Diseases. 3 (2016) 3 - p. 293-308 , 2016

Link: https://doi.org/10.3233/..

11

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/..

12

Atypical phenotypes in titinopathies explained by second ti..:

Evilä, Anni ; Vihola, Anna ; Sarparanta, Jaakko...
Annals of Neurology. 75 (2014) 2 - p. 230-240 , 2014

Link: https://doi.org/10.1002/..

13

Welander distal myopathy is caused by a mutation in the RNA..:

Hackman, Peter ; Sarparanta, Jaakko ; Lehtinen, Sara...
Annals of Neurology. 73 (2013) 4 - p. 500-509 , 2013

Link: https://doi.org/10.1002/..

14

Mutations affecting the cytoplasmic functions of the co-cha..:

Sarparanta, Jaakko ; Jonson, Per Harald ; Golzio, Christelle...
Nature Genetics. 44 (2012) 4 - p. 450-455 , 2012

Link: https://doi.org/10.1038/..

15

Four new Finnish families with LGMD1D; refinement of the cl..:

Hackman, Peter ; Sandell, Satu ; Sarparanta, Jaakko...
Neuromuscular Disorders. 21 (2011) 5 - p. 338-344 , 2011

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