Sara Lehtinen
Tampere, Finland
Last Updated: 09/26/2026
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Found 9 publications
Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity.
Journal: Neurology. Genetics
Published: October 02, 2023
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.
Journal: Journal of neuromuscular diseases
Published: February 11, 2020
A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy.
Journal: Journal of neurology
Published: December 01, 2018
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy.
Journal: Neurology
Published: June 25, 2018
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
Journal: Molecular neurobiology
Published: February 01, 2016
Long-term survival of an infant with diffuse brainstem lesion diagnosed by prenatal MRI: a case report and review of the literature.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: November 23, 2015
Physical health of singleton children born after frozen embryo transfer using slow freezing: a 3-year follow-up study.
Journal: Human reproduction (Oxford, England)
Published: April 10, 2015
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.
Journal: Annals of neurology
Published: August 14, 2012
Showing 1-9 of 9
Last Updated: 09/26/2026