Author

Mia Olsson Engman

Observed names: Mia Olsson-Engman, Olsson Engman, Mia

Institutions: Blekingesjukhuset, Region Blekinge

Observed institutions: Blekingesjukhuset, Region Blekinge

OpenAlex ID: A5000324295

PREPL deficiency: delineation of the phenotype and development of a functional blood assay

2017 · Luc Régal, Emma Mårtensson, et al. · Genetics in Medicine · 39

A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency

2016 · Carola Hedberg-Oldfors, Niklas Darin, et al. · European Journal of Human Genetics · 23

Hypocretin Deficiency Develops During Onset of Human Narcolepsy with Cataplexy

2012 · Andri Savvidou, Stine Knudsen, et al. · SLEEP · 23

Phenotypic and transcriptomic characterisation of a novel biallelic RNU2-2 developmental and epileptic encephalopathy

2026 · Olivia J. Henry, Nadja Pekkola Pacheco, et al. · medRxiv · 1

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

2026 · Olivia J. Henry, Nadja Pekkola Pacheco, et al. · Epilepsia

Progressive Orexin Deficiency and Age-Dependent Glial and Axonal Biomarkers in juvenile neuronal ceroid lipofuscinosis type 3 (CLN3) Disease

2026 · Pontus Wasling, Jonathan Blomqvist, et al. · Pediatric Neurology

PREPL deficiency: delineation of the phenotype and development of a functional blood assay (S46.008)

2017 · Luc Regal, Emma Martensson, et al. · Neurology

Works count: 8

Citation count: 86

H-index: 3

I10-index: 3