Publications by authors named "Anna Vihola"

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Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe.
Veronica Sian, Maria Francesca Di Feo, Sergei Kurbatov, Anna Vihola, Helena Luque

Eur J Neurol· November 2025

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C-terminal extension of HSPB6 in a family with myopathy and cataract.
Jaakko Sarparanta, Per Harald Jonson, Anna Vihola, Helena Luque, Rocío-Nur Villar-Quiles

Hum Mol Genet· November 2025

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Characterization of novel CASQ1 variants in two families with unusual phenotypic features.
Milla Laarne, Manu Jokela, Fang Zhao, Sanna Huovinen, Cornelia Kornblum, Anna Vihola

J Neurol· November 2025

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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, Veerle Goosens, Ana Topf, Anna Vihola

Neurol Genet· October 2024

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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Ana Töpf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Anna Vihola

Nat Genet· March 2024

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Extension of the DNAJB2a isoform in a dominant neuromyopathy family.
Jaakko Sarparanta, Per Harald Jonson, Jens Reimann, Anna Vihola, Helena Luque

Hum Mol Genet· October 2023

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Variant Associated With a Myalgic Myopathy Phenotype.
Vesa Periviita, Johanna Palmio, Manu Jokela, Paivi Hartikainen, Anna Vihola

Neurology· October 2023

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HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.
Barbara Tedesco, Leen Vendredy, Elias Adriaenssens, Marta Cozzi, Bob Asselbergh, Anna Vihola

Autophagy· August 2023

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Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Macarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, Anna Vihola, Manu Jokela

Brain· November 2022

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Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis.
Mridul Johari, Anna Vihola, Johanna Palmio, Manu Jokela, Per Harald Jonson

J Neurol· August 2022

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Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the Gene.
Peter Hackman, Salla M Rusanen, Mridul Johari, Anna Vihola, Per Harald Jonson

Neurol Genet· December 2021

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Out-of-Frame Mutations in Last Exon Cause a Dominant Distal Myopathy With Facial Weakness.
Marco Savarese, Anna Vihola, Manu E Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini

Neurol Genet· October 2021

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Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
Mridul Johari, Jaakko Sarparanta, Anna Vihola, Per Harald Jonson, Marco Savarese

Acta Neuropathol· August 2021

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Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin.
Lydia Sagath, Vilma-Lotta Lehtokari, Salla Välipakka, Anna Vihola, Maria Gardberg

Neuromuscul Disord· June 2021

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Genotype-phenotype correlations in recessive titinopathies.
Marco Savarese, Anna Vihola, Emily C Oates, Rita Barresi, Chiara Fiorillo

Genet Med· December 2020

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Panorama of the distal myopathies.
Marco Savarese, Jaakko Sarparanta, Anna Vihola, Per Harald Jonson, Mridul Johari

Acta Myol· December 2020

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Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Samantha J Bryen, Lisa J Ewans, Jason Pinner, Suzanna C MacLennan, Sandra Donkervoort, Anna Vihola

Hum Mutat· February 2020

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Mutations in the J domain of DNAJB6 cause dominant distal myopathy.
Johanna Palmio, Per Harald Jonson, Michio Inoue, Jaakko Sarparanta, Rocio Bengoechea, Anna Vihola

Neuromuscul Disord· January 2020

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New family with 8-associated autosomal dominant rimmed vacuolar myopathy.
Sejad Al-Tahan, Lan Weiss, Howard Yu, Sha Tang, Mario Saporta, Anna Vihola

Neurol Genet· August 2019

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A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy.
Manu Jokela, Sara Lehtinen, Johanna Palmio, Anna-Maija Saukkonen, Sanna Huovinen, Anna Vihola

J Neurol· July 2019

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Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
Marco Savarese, Johanna Palmio, Juan José Poza, Jan Weinberg, Montse Olive, Anna Vihola

Ann Neurol· June 2019

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Novel mutation in causes congenital limb-girdle myopathy with slow progression.
Anna Vihola, Johanna Palmio, Olof Danielsson, Sini Penttilä, Daniel Louiselle

Neurol Genet· June 2019

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An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy.
Manu Jokela, Giorgio Tasca, Anna Vihola, Eugenio Mercuri, Per-Harald Jonson

Neurology· April 2019

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Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.
Kirsi J Kiiski, Vilma-Lotta Lehtokari, Anna K Vihola, Jenni M Laitila, Sanna Huovinen

Neuromuscul Disord· February 2019

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Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases.
Emmanuelle C Genin, Sylvie Bannwarth, Françoise Lespinasse, Bernardo Ortega-Vila, Konstantina Fragaki, Anna Vihola

Neurobiol Dis· November 2018

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