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  1. Article

    Open Access

    Status epilepticus in POLG disease: a large multinational study

    We aimed to provide a detailed phenotypic description of status epilepticus (SE) in a large cohort of patients with POLG disease and identify prognostic biomarkers to improve the management of this life-threat...

    Omar Hikmat, Karin Naess, Martin Engvall, Claus Klingenberg… in Journal of Neurology (2024)

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  2. Article

    Open Access

    Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

    We report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since m...

    Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson… in Genome Medicine (2021)

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  3. Article

    Open Access

    Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

    Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O2, facilitates its intracellular transport and serves ...

    Montse Olivé, Martin Engvall, Gianina Ravenscroft… in Nature Communications (2019)

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  4. Article

    Open Access

    Overweight and obesity impair left ventricular systolic function as measured by left ventricular ejection fraction and global longitudinal strain

    Obesity is associated with type 2 diabetes mellitus, left ventricular diastolic dysfunction and heart failure but it is unclear to which extent it is related to left ventricular systolic dysfunction. The aim o...

    Peter Blomstrand, Peter Sjöblom, Mats Nilsson, Magnus Wijkman… in Cardiovascular Diabetology (2018)

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  5. No Access

    Article

    POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome

    Hyperintensities in the middle cerebellar peduncles (MCP), known as the MCP sign, and progressive late-onset ataxia constitute major characteristics of the fragile X tremor/ataxia syndrome (FXTAS). Here, we de...

    Martin Paucar, Martin Engvall, Lisa Gordon, Emma Tham, Matthis Synofzik… in The Cerebellum (2016)

  6. Article

    Open Access

    Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

    Massively parallel DNA sequencing (MPS) has the potential to revolutionize diagnostics, in particular for monogenic disorders. Inborn errors of metabolism (IEM) constitute a large group of monogenic disorders ...

    Henrik Stranneheim, Martin Engvall, Karin Naess, Nicole Lesko… in BMC Genomics (2014)

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  7. No Access

    Article

    β-Ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients

    André B.P. van Kuilenburg, Doreen Dobritzsch… in Tijdschrift voor Kindergeneeskunde (2013)