Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Anna Vihola

6PUBLICATIONS
28CO-AUTHORS
Structural properties of condensed matterCell physiologyNeurology and neuromuscular diseasesMedical infection agents (incl. prions)Animal nutrition
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (6)

Sort by Publication Date:
|Nov 28, 2025
Characterization of novel CASQ1 variants in two families with unusual phenotypic features.

Milla Laarne, Manu Jokela, Fang Zhao

|Nov 26, 2025
C-terminal extension of HSPB6 in a family with myopathy and cataract.

Jaakko Sarparanta, Per Harald Jonson, Anna Vihola

|Oct 08, 2024
A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule.

Kristl G Claeys, Marco Savarese, Per Harald Jonson

|Nov 01, 2021
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> Gene.

Peter Hackman, Salla M Rusanen, Mridul Johari

|Mar 08, 2019
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy.

Manu Jokela, Giorgio Tasca, Anna Vihola

|May 11, 2017
Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.

A Vihola, H Luque, M Savarese

Pageof 1

Frequent Collaborators

4 joint publications

Per-Harald Jonson

4 joint publications

Bjarne Udd

3 joint publications

Mridul Johari

3 joint publications

Marco Savarese

3 joint publications

Peter Hackman

3 joint publications

Jaakko Sarparanta

2 joint publications

Giorgio Tasca

2 joint publications

Manu Jokela

2 joint publications

Salla Välipakka

1 joint publications

Eugenio Mercuri

Frequent Collaborators

4 joint publications

Per-Harald Jonson

4 joint publications

Bjarne Udd

3 joint publications

Mridul Johari

3 joint publications

Marco Savarese

Top Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on : Jan 16, 2019

11.3K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on : Aug 08, 2022

4.1K
In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

13.6K
See more related videos

Top Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on : Jan 16, 2019

11.3K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on : Aug 08, 2022

4.1K
In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

13.6K
See more related videos