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Anna Vihola

Showing results (21-30 of 50) with videos related to

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Neuromuscular Disorders : NMD|July 19, 2017
A 'second truncation' in TTN causes early onset recessive muscular dystrophyElizabeth Harris, Ana Töpf, Anna Vihola, et al.
The American Journal of Pathology|August 14, 2015
Differential isoform expression and selective muscle involvement in muscular dystrophiesSanna Huovinen, Sini Penttilä, Panu Somervuo, et al.
Journal of Neurology|November 28, 2025
Characterization of novel CASQ1 variants in two families with unusual phenotypic featuresMilla Laarne, Manu Jokela, Fang Zhao, et al.
Annals of Neurology|February 13, 2013
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1Peter Hackman, Jaakko Sarparanta, Sara Lehtinen, et al.
European Journal of Neurology|November 17, 2025
Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern EuropeVeronica Sian, Maria Francesca Di Feo, Sergei Kurbatov, et al.
Human Molecular Genetics|November 26, 2025
C-terminal extension of HSPB6 in a family with myopathy and cataractJaakko Sarparanta, Per Harald Jonson, Anna Vihola, et al.
Annals of Neurology|March 23, 2019
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutationsMarco Savarese, Johanna Palmio, Juan José Poza, et al.
Neurology|March 8, 2019
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathyManu Jokela, Giorgio Tasca, Anna Vihola, et al.
Neurology. Genetics|August 13, 2021
Out-of-Frame Mutations in <i>ACTN2</i> Last Exon Cause a Dominant Distal Myopathy With Facial WeaknessMarco Savarese, Anna Vihola, Manu E Jokela, et al.
Brain : a Journal of Neurology|May 12, 2012
Titin mutation segregates with hereditary myopathy with early respiratory failureGerald Pfeffer, Hannah R Elliott, Helen Griffin, et al.
Pageof 5

Showing results (21-30 of 50) with videos related to

Sort By:
Pageof 5
Neuromuscular Disorders : NMD|July 19, 2017
A 'second truncation' in TTN causes early onset recessive muscular dystrophyElizabeth Harris, Ana Töpf, Anna Vihola, et al.
The American Journal of Pathology|August 14, 2015
Differential isoform expression and selective muscle involvement in muscular dystrophiesSanna Huovinen, Sini Penttilä, Panu Somervuo, et al.
Journal of Neurology|November 28, 2025
Characterization of novel CASQ1 variants in two families with unusual phenotypic featuresMilla Laarne, Manu Jokela, Fang Zhao, et al.
Annals of Neurology|February 13, 2013
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1Peter Hackman, Jaakko Sarparanta, Sara Lehtinen, et al.
European Journal of Neurology|November 17, 2025
Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern EuropeVeronica Sian, Maria Francesca Di Feo, Sergei Kurbatov, et al.
Human Molecular Genetics|November 26, 2025
C-terminal extension of HSPB6 in a family with myopathy and cataractJaakko Sarparanta, Per Harald Jonson, Anna Vihola, et al.
Annals of Neurology|March 23, 2019
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutationsMarco Savarese, Johanna Palmio, Juan José Poza, et al.
Neurology|March 8, 2019
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathyManu Jokela, Giorgio Tasca, Anna Vihola, et al.
Neurology. Genetics|August 13, 2021
Out-of-Frame Mutations in <i>ACTN2</i> Last Exon Cause a Dominant Distal Myopathy With Facial WeaknessMarco Savarese, Anna Vihola, Manu E Jokela, et al.
Brain : a Journal of Neurology|May 12, 2012
Titin mutation segregates with hereditary myopathy with early respiratory failureGerald Pfeffer, Hannah R Elliott, Helen Griffin, et al.
Pageof 5