Mari Auranen

Helsinki, Finland

Last Updated: 09/26/2026

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Found 53 publications

Epidemiology, treatment practices, and societal and economic burden of Duchenne muscular dystrophy in Finland: A retrospective register and chart review study.

Epidemiology, treatment practices, and societal and economic burden of Duchenne muscular dystrophy in Finland: A retrospective register and chart review study.

Journal: Journal of the neurological sciences

Published: October 20, 2025

Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study.

Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study.

Journal: Journal of neuromuscular diseases

Published: February 20, 2025

Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity.

Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity.

Journal: Neurology. Genetics

Published: October 02, 2023

Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.

Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.

Journal: Neuromuscular disorders : NMD

Published: September 21, 2023

Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle disease.

Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle disease.

Journal: Frontiers in neurology

Published: August 15, 2023

Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light.

Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light.

Journal: Neurogenetics

Published: June 05, 2023

Lactate and ammonia measurements during cardiopulmonary exercise testing and its recovery phase-Consideration of age and sex in its interpretation.

Lactate and ammonia measurements during cardiopulmonary exercise testing and its recovery phase-Consideration of age and sex in its interpretation.

Journal: Clinical physiology and functional imaging

Published: November 04, 2022

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.

Journal: Acta neuropathologica communications

Published: October 28, 2022

Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy.

Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy.

Journal: Frontiers in neurology

Published: October 12, 2021

Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism.

Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism.

Journal: Human molecular genetics

Published: August 05, 2021

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene.

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene.

Journal: Neurology. Genetics

Published: July 21, 2021

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

Journal: Brain : a journal of neurology

Published: June 04, 2021

Showing 1-12 of 53

Last Updated: 09/26/2026