Pirjo Isohanni

Helsinki, Finland

Last Updated: 09/26/2026

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Found 66 publications

Multifactorial Nature of Childhood Stroke Presents a Major Challenge for Diagnosis and Management: A Population-Based Study From Southern Finland.

Multifactorial Nature of Childhood Stroke Presents a Major Challenge for Diagnosis and Management: A Population-Based Study From Southern Finland.

Journal: Acta paediatrica (Oslo, Norway : 1992)

Published: January 27, 2026

Platelet transcriptomic signatures in pediatric brain tumors distinguish cancer from cancer-free control.

Platelet transcriptomic signatures in pediatric brain tumors distinguish cancer from cancer-free control.

Journal: Acta neuropathologica communications

Published: January 08, 2026

Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy.

Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy.

Journal: Molecular cytogenetics

Published: November 05, 2025

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

Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.

Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.

Journal: Journal of inherited metabolic disease

Published: June 02, 2025

A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report.

A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report.

Journal: Journal of neuromuscular diseases

Published: May 21, 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

Status epilepticus in POLG disease: a large multinational study.

Status epilepticus in POLG disease: a large multinational study.

Journal: Journal of neurology

Published: March 27, 2024

Niacin supplementation in a child with novel MTTN variant m.5670A>G causing early onset mitochondrial myopathy and NAD+ deficiency.

Niacin supplementation in a child with novel MTTN variant m.5670A>G causing early onset mitochondrial myopathy and NAD+ deficiency.

Journal: Neuromuscular disorders : NMD

Published: March 14, 2024

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

Without ENMG, detecting pediatric vincristine neuropathy is a challenge.

Without ENMG, detecting pediatric vincristine neuropathy is a challenge.

Journal: Clinical neurophysiology practice

Published: August 13, 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

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Last Updated: 09/26/2026