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OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development

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Avoin saatavuus
DOI
10.1186/s13395-025-00374-6
Oghabian, Ali; Jonson, Per Harald; Gayathri, Swethaa Natraj; Johari, Mridul; Nippala, Ella; Andres, ...
Skeletal muscle2025

High-throughput muscle fiber typing from RNA sequencing data

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Avoin saatavuus
DOI
10.1186/s13395-022-00299-4
Oskolkov, Nikolay; Santel, Malgorzata; Parikh, Hemang M.; Ekstrom, Ola; Camp, Gray J.; Miyamoto-Mika...
Skeletal Muscle2022

A novel atlas of gene expression in human skeletal muscle reveals molecular changes associated with aging

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Avoin saatavuus
DOI
10.1186/s13395-015-0059-1
Su, Jing; Ekman, Carl; Oskolkov, Nikolay; Lahti, Leo; Ström, Kristoffer; Brazma, Alvis; Groop, Leif;...
Skeletal Muscle2015

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

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Avoin saatavuus
DOI
10.1186/s13395-018-0170-1
Johnson, Katherine; Bertoli, Marta; Phillips, Lauren; Topf, Ana; Van den Bergh, Peter; Vissing, John...
Skeletal muscle2018

The complexity of titin splicing pattern in human adult skeletal muscles

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Avoin saatavuus
DOI
10.1186/s13395-018-0156-z
Savarese, Marco; Jonson, Per Harald; Huovinen, Sanna; Paulin, Lars; Auvinen, Petri; Udd, Bjarne; Hac...
Skeletal muscle2018

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

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DOI
10.1186/2044-5040-1-23
Lawlor, Michael; Ottenheijm, Coen; Lehtokari, Vilma-Lotta; Cho, Kiyomi; Pelin, Katarina; Wallgren-Pe...
Skeletal muscle2011

Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers

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Avoin saatavuus
DOI
10.1186/s13395-017-0131-0
Cox, Melissa L.; Evans, Jacquelyn M.; Davis, Alexander G.; Guo, Ling T.; Levy, Jennifer R.; Starr-Mo...
Skeletal Muscle2017

Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations

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Avoin saatavuus
DOI
10.1186/2044-5040-4-15
Marttila, Minttu Marjaana; Hanif, Mubashir; Lemola, Elina; Nowak, Kristen; Laitila, Jenni; Grönholm,...
Skeletal muscle2014

Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations

Vertaisarvioitu
Avoin saatavuus
DOI
10.1186/2044-5040-4-15
Marttila, Minttu Marjaana; Hanif, Mubashir; Lemola, Elina; Nowak, Kristen; Laitila, Jenni; Grönholm,...
Skeletal Muscle2014

The complexity of titin splicing pattern in human adult skeletal muscles

Vertaisarvioitu
Avoin saatavuus
Savarese M; Jonson PH; Huovinen S; Paulin L; Auvinen P; Udd B; Hackman P
Skeletal Muscle2018

OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development

Vertaisarvioitu
Avoin saatavuus
DOI
10.1186/s13395-025-00374-6
2025

High-throughput muscle fiber typing from RNA sequencing data

Vertaisarvioitu
Avoin saatavuus
DOI
10.1186/s13395-022-00299-4
2022

A novel atlas of gene expression in human skeletal muscle reveals molecular changes associated with aging

Vertaisarvioitu
Avoin saatavuus
DOI
10.1186/s13395-015-0059-1
2015

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Vertaisarvioitu
Avoin saatavuus
DOI
10.1186/s13395-018-0170-1
2018

The complexity of titin splicing pattern in human adult skeletal muscles

Vertaisarvioitu
Avoin saatavuus
DOI
10.1186/s13395-018-0156-z
2018

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

Vertaisarvioitu
DOI
10.1186/2044-5040-1-23
2011

Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers

Vertaisarvioitu
Avoin saatavuus
DOI
10.1186/s13395-017-0131-0
2017

Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations

Vertaisarvioitu
Avoin saatavuus
DOI
10.1186/2044-5040-4-15
2014

Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations

Vertaisarvioitu
Avoin saatavuus
DOI
10.1186/2044-5040-4-15
2014

The complexity of titin splicing pattern in human adult skeletal muscles

Vertaisarvioitu
Avoin saatavuus
2018