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Pelin, Katarina
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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