Publications by authors named "Peter Hackman"

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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, Peter Hackman

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, Peter Hackman

Eur J Neurol· November 2025

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The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.
Maria Francesca Di Feo, Ida Paramonov, Leslie Matalonga Borrel, Ana Töpf, Alexander Hoischen, Peter Hackman

Genet Med· 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, Peter Hackman

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, Peter Hackman

J Neurol· November 2025

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Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.
Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Peter Hackman

Genet Med· June 2025

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Gene prioritisation for enhancing molecular diagnosis in rare skeletal muscle disease cohort.
Victoria Lillback, Gaber Bergant, Maria Francesca Di Feo, Ivana Babić Bozović, Annalaura Torella, Peter Hackman

J Med Genet· April 2025

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Correction: OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development.
Ali Oghabian, Per Harald Jonson, Swethaa Natraj Gayathri, Mridul Johari, Ella Nippala, Peter Hackman

Skelet Muscle· April 2025

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OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development.
Ali Oghabian, Per Harald Jonson, Swethaa Natraj Gayathri, Mridul Johari, Ella Nippala, Peter Hackman

Skelet Muscle· March 2025

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Inferring disease course from differential exon usage in the wide titinopathy spectrum.
Maria Francesca Di Feo, Ali Oghabian, Ella Nippala, Mathias Gautel, Heinz Jungbluth, Peter Hackman

Ann Clin Transl Neurol· October 2024

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Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.
Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Peter Hackman

medRxiv· September 2024

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Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions.
Huahua Zhong, Veronica Sian, Mridul Johari, Shintaro Katayama, Ali Oghabian, Peter Hackman

Commun Biol· April 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, Peter Hackman

Hum Mol Genet· October 2023

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Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy.
Victoria Lillback, Marco Savarese, Niina Sandholm, Peter Hackman, Bjarne Udd

Eur J Neurol· April 2023

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Mutation update for the ACTN2 gene.
Johanna Ranta-Aho, Montse Olive, Marie Vandroux, Giorgia Roticiani, Cristina Dominguez, Peter Hackman

Hum Mutat· December 2022

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Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11.
Mridul Johari, George Papadimas, Constantinos Papadopoulos, Sophia Xirou, Aikaterini Kanavaki, Peter Hackman

Ann Clin Transl Neurol· October 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, Peter Hackman

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, Peter Hackman

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, Peter Hackman

Acta Neuropathol· August 2021

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Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio).
Marco Savarese, Talha Qureshi, Annalaura Torella, Pia Laine, Teresa Giugliano, Peter Hackman

J Neuromuscul Dis· July 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, Peter Hackman

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, Peter Hackman

Genet Med· December 2020

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

Acta Myol· December 2020

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