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Pelin, Katarina
96
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Online (95)
Print (1)
Mediatypes
Articles (Online) (47)
OpenAccess-fulltext (48)
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1
Variants in tropomyosins TPM2 and TPM3 causing muscle hyper..:
Wallgren-Pettersson, Carina
;
Jokela, Manu
;
Lehtokari, Vilma-Lotta
...
Neuromuscular Disorders. 35 (2024) - p. 29-32 , 2024
Link:
https://doi.org/10.1016/..
?
2
Haplotype information of large neuromuscular disease genes ..:
Lehtonen, Johanna
;
Sulonen, Anna-Maija
;
Almusa, Henrikki
...
Scientific Reports. 14 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
3
A recurrent ACTA1 amino acid change in mosaic form causes m..:
Lehtokari, Vilma-Lotta
;
Sagath, Lydia
;
Davis, Mark
...
Neuromuscular Disorders. 34 (2024) - p. 32-40 , 2024
Link:
https://doi.org/10.1016/..
?
4
P452: Specifying the ACMG/AMP variant sequence interpretati..:
DiStefano, Marina
;
Webb, Ryan
;
McCurry, Hannah
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100499 , 2023
Link:
https://doi.org/10.1016/..
?
5
Novel Compound Heterozygous Splice-Site Variants in TPM3 Re..:
Pelin, Katarina
;
Sagath, Lydia
;
Lehtonen, Johanna
...
Journal of Neuromuscular Diseases. 10 (2023) 5 - p. 977-984 , 2023
Link:
https://doi.org/10.3233/..
?
6
A custom ddPCR method for the detection of copy number vari..:
Sagath, Lydia
;
Lehtokari, Vilma-Lotta
;
Wallgren-Pettersson, Carina
...
PLOS ONE. 17 (2022) 5 - p. e0267793 , 2022
Link:
https://doi.org/10.1371/..
?
7
Array Comparative Genomic Hybridisation and Droplet Digital..:
Sagath, Lydia
;
Lehtokari, Vilma-Lotta
;
Pelin, Katarina
.
Genes. 13 (2022) 5 - p. 905 , 2022
Link:
https://doi.org/10.3390/..
?
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
Nebulin: Size matters for optimal muscle function:
Pelin, Katarina
Journal of General Physiology. 153 (2021) 3 - p. , 2021
Link:
https://doi.org/10.1085/..
?
10
A novel mutation in NEB causing foetal nemaline myopathy wi..:
Rocha, Maria L.
;
Dittmayer, Carsten
;
Uruha, Akinori
...
Neuromuscular Disorders. 31 (2021) 3 - p. 239-245 , 2021
Link:
https://doi.org/10.1016/..
?
11
Nebulin nemaline myopathy recapitulated in a compound heter..:
Laitila, Jenni M.
;
McNamara, Elyshia L.
;
Wingate, Catherine D.
...
Acta Neuropathologica Communications. 8 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
?
12
Update on the Genetics of Congenital Myopathies:
Pelin, Katarina
;
Wallgren-Pettersson, Carina
Seminars in Pediatric Neurology. 29 (2019) - p. 12-22 , 2019
Link:
https://doi.org/10.1016/..
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13
An Extended Targeted Copy Number Variation Detection Array ..:
Sagath, Lydia
;
Lehtokari, Vilma-Lotta
;
Välipakka, Salla
...
Journal of Neuromuscular Diseases. 5 (2018) 3 - p. 307-314 , 2018
Link:
https://doi.org/10.3233/..
?
14
Two alternatively-spliced human nebulin isoforms with eithe..:
Lam, Le Thanh
;
Holt, Ian
;
Laitila, Jenni
...
Scientific Reports. 8 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1038/..
?
15
Clinically variable nemaline myopathy in a three-generation..:
Lehtokari, Vilma-Lotta
;
Gardberg, Maria
;
Pelin, Katarina
.
Neuromuscular Disorders. 28 (2018) 4 - p. 323-326 , 2018
Link:
https://doi.org/10.1016/..
1-15