Johanna M. Uusimaa
Oulu, Finland
Last Updated: 09/26/2026
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Found 80 publications
Neurologic and psychiatric symptoms and diseases in families of persons with epilepsy.
Journal: Epilepsy & behavior : E&B
Published: May 14, 2026
Muscle biopsy and mitochondrial disease criteria as diagnostic tools for paediatric patients presenting with neuromuscular phenotypes: highlighting the role of secondary mitochondrial dysfunction.
Journal: Neuromuscular disorders : NMD
Published: October 30, 2025
Correction: Requirement Analysis for Data-Driven Electroencephalography Seizure Monitoring Software to Enhance Quality and Decision Making in Digital Care Pathways for Epilepsy: A Feasibility Study from the Perspectives of Health Care Professionals.
Journal: JMIR human factors
Published: June 22, 2025
Clinical and genetic characterization of intellectual disability.
Journal: Developmental medicine and child neurology
Published: June 04, 2025
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.
Journal: Journal of inherited metabolic disease
Published: June 02, 2025
Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 05, 2025
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 05, 2025
Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: March 31, 2025
A Novel Homozygous KIF1C Variant in 2 Cases of Spastic Ataxia Type 2.
Journal: Neurology. Genetics
Published: March 25, 2025
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: November 27, 2024
Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings.
Journal: Mitochondrion
Published: September 24, 2024
Last Updated: 09/26/2026