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Journal of Neurology|April 10, 2019
A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophyManu Jokela, Sara Lehtinen, Johanna Palmio, et al.Neurology. Genetics|May 10, 2024
Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable SeverityJohanna Palmio, Panu Kiviranta, Päivi H Hartikainen, 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.Neurology|March 8, 2019
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathyManu Jokela, Giorgio Tasca, Anna Vihola, et al.Molecular Neurobiology|November 1, 2016
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal TitinopathyAnni Evilä, Johanna Palmio, Anna Vihola, et al.Nature Genetics|February 28, 2012
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophyJaakko Sarparanta, Per Harald Jonson, Christelle Golzio, et al.Journal of Neuromuscular Diseases|February 11, 2020
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal MyopathiesMarco Savarese, Mridul Johari, Katherine Johnson, et al.Emerging Infectious Diseases|October 28, 2021
Incidence Trends for SARS-CoV-2 Alpha and Beta Variants, Finland, Spring 2021Ravi Kant, Phuoc Truong Nguyen, Soile Blomqvist, et al.Pageof 1