Carolina Courage

University of Helsinki — Finland

Biochemistry, Genetics and Molecular Biology · Life Sciences

16h-index1.9kcitations34works4.12yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(17), Genomic variations and chromosomal abnormalities(7), Genomics and Rare Diseases(7), Lysosomal Storage Disorders Research(5), Cellular transport and secretion(4)

Publications34 total

Enzyme Replacement Therapy in CLN2-Associated Retinopathy
Klinische Monatsblätter für Augenheilkunde·2025· 2 citedOpen Access
Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2
Neuropediatrics·2025· 4 citedOpen Access
Novel, complex configurations of the <i>MARCHF6</i> repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy
Brain Communications·2025Open Access
A conserved role for ALG10/ALG10B and the <i>N</i> -glycosylation pathway in the sleep-epilepsy axis
2024· 4 citedOpen Access
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
The American Journal of Human Genetics·2024· 16 citedOpen Access
Clinical features and genotype–phenotype correlations in epilepsy patients with de novo <scp><i>DYNC1H1</i></scp> variants
Epilepsia·2024· 3 citedOpen Access
Table of Contents, Volume 194A, Number 4, April 2024
American Journal of Medical Genetics Part A·2024Open Access
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases
American Journal of Medical Genetics Part A·2023· 10 citedOpen Access
Präkonzeptionsscreening
Gynäkologische Endokrinologie·2022
Progressive Myoclonus Epilepsies
Neurology Genetics·2021· 36 citedOpen Access
The Angelman Syndrome Online Registry – A multilingual approach to support global research
European Journal of Medical Genetics·2021· 5 cited
Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy
Brain Communications·2021· 29 citedOpen Access
Biallelic and <i>de novo</i> variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy
2021Open Access
Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes
The American Journal of Human Genetics·2021· 81 citedOpen Access
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of <scp><i>SLC7A6OS</i></scp>
Annals of Neurology·2020· 7 citedOpen Access
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome
European Journal of Medical Genetics·2019· 14 citedOpen Access
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome
American Journal of Medical Genetics Part A·2019· 17 citedOpen Access
Structural brain anomalies in patients with <scp>FOXG</scp>1 syndrome and in Foxg1+/− mice
Annals of Clinical and Translational Neurology·2019· 34 citedOpen Access
Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production
Nature Communications·2018· 176 citedOpen Access
Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope-derived multipeptide vaccines: a case report
Journal of Translational Medicine·2018· 36 citedOpen Access
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Frequent Co-authors

Johannes R. Lemke(15), Anna‐Elina Lehesjoki(10), Pasquale Striano(7), Rikke S. Møller(7), Saskia Biskup(6), Katherine L. Helbig(6), Samuel F. Berkovic(6), Ingo Helbig(5), Christopher B. Jackson(5), Mikko Muona(5), Sabina Gallati(4), Markus Wolff(4), Henrike Heyne(4), Steffen Syrbe(4), Boris Keren(4), Ingrid E. Scheffer(4), Karen Oliver(4), Laura Canafoglia(4), Melanie Bahlo(4), Federico Zara(4)