Publications by authors named "Helena Luque"

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Optimizing 2D in vitro differentiation conditions for C2C12 murine myoblasts on gelatin hydrogel.
Veronica Sian, Per Harald Jonson, Anna Vainio, Helena Luque, Swethaa Natraj Gayathri

J Muscle Res Cell Motil· December 2025

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

Neurol Genet· December 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, Helena Luque

Acta Neuropathol· August 2021

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

Genet Med· December 2020

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Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
Marco Savarese, Lorenzo Maggi, Anna Vihola, Per Harald Jonson, Giorgio Tasca, Helena Luque

JAMA Neurol· May 2018

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CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
Karine Charton, Jaakko Sarparanta, Anna Vihola, Astrid Milic, Per Harald Jonson, Helena Luque

Hum Mol Genet· July 2015

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Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.
Peter Hackman, Jaakko Sarparanta, Sara Lehtinen, Anna Vihola, Anni Evilä, Helena Luque

Ann Neurol· April 2013

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Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.
Jaakko Sarparanta, Per Harald Jonson, Christelle Golzio, Satu Sandell, Helena Luque

Nat Genet· February 2012

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Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.
Peter Hackman, Satu Sandell, Jaakko Sarparanta, Helena Luque, Sanna Huovinen

Neuromuscul Disord· May 2011

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The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy.
Satu Sandell, Sanna Huovinen, Jaakko Sarparanta, Helena Luque, Olayinka Raheem

J Neurol Neurosurg Psychiatry· August 2010

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