{"entity": "researcher", "timestamp": "2026-08-22T06:58:53.181Z", "family": "Frans\u00e9n", "given": "Erik", "initials": "E", "orcid": "0000-0003-0281-9450", "affiliations": ["School of Electrical Engineering and Computer Science, KTH Royal Institute of Technology, Stockholm, Sweden.", "Digital Futures, KTH Royal Institute of Technology, Stockholm, Sweden.", "Science for Life Laboratory, KTH Royal Institute of Technology, Stockholm, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/8637ab0257cb4d6bbed54277845b7886.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/8637ab0257cb4d6bbed54277845b7886"}}, "publications": [{"entity": "publication", "iuid": "f71ca18559a24bfda8884b0d530c487e", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/f71ca18559a24bfda8884b0d530c487e.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/f71ca18559a24bfda8884b0d530c487e"}}, "title": "Orthostatic Tremor Is Evoked by Muscle Load Without the Need for Orthostatic Position.", "authors": [{"family": "Af Edholm", "given": "Karolina", "initials": "K", "orcid": "0000-0002-3355-8671", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0afd7bf5b2ec4edbb6df37808315379d.json"}}, {"family": "Uribarri", "given": "Gonzalo", "initials": "G", "orcid": "0000-0002-5928-6176", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1c1a191e769343edbede9b3d02647240.json"}}, {"family": "Sundgren", "given": "Mathias", "initials": "M"}, {"family": "Svenningsson", "given": "Anders", "initials": "A", "orcid": "0000-0003-0663-2220", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a9208cc7e46847c5840d2d22da4f83a6.json"}}, {"family": "Frans\u00e9n", "given": "Erik", "initials": "E", "orcid": "0000-0003-0281-9450", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8637ab0257cb4d6bbed54277845b7886.json"}}], "type": "journal article", "published": "2026-01-00", "journal": {"title": "Mov Disord Clin Pract", "issn": "2330-1619", "volume": "13", "issue": "1", "pages": "208-215", "issn-l": null}, "abstract": "Primary orthostatic tremor (POT) is a rare movement disorder characterized by a high-frequency tremor and a considerable feeling of unsteadiness. People with POT are significantly affected in their daily activities and have reduced quality of life. The tremor occurs in standing position and dominates in the lower extremities. However, whether an orthostatic position is essential for evoking the tremor has not been fully clarified.\n\nTo investigate how POT is responding to muscle load in non-orthostatic positions.\n\nIn this work, we measured the tremor in POT patients using a smartphone running a tremor analysis application attached to the proximal fibula in supine, seated and standing position, as well as when they were subjected to muscle load in a leg press machine in a seated position.\n\nWe demonstrate that the tremor can be elicited by muscle load while the patient is sitting, compatible with a weight-bearing isometric tremor, without the need to be in standing position. Furthermore, the weight of the load modulates the amplitude of the elicited tremor, but not its frequency.\n\nThese findings suggest that POT is a weight-bearing hyperkinetic disorder and challenge the conventional assumption that the POT patient must be in standing position for the tremor to fully manifest. The results potentially have implications for understanding the mechanisms underlying POT, and can be of importance in future experimental studies, for example MRI, when standing position is not an available option.", "doi": "10.1002/mdc3.70270", "pmid": "40747937", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC12839475"}], "notes": [], "created": "2026-08-21T11:03:17.666Z", "modified": "2026-08-21T11:03:17.839Z"}, {"entity": "publication", "iuid": "a88a1be2f00a4dadbb1b31facf55137c", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/a88a1be2f00a4dadbb1b31facf55137c.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/a88a1be2f00a4dadbb1b31facf55137c"}}, "title": "Developmental disruption and restoration of brain synaptome architecture in the murine Pax6 neurodevelopmental disease model.", "authors": [{"family": "Tomas-Roca", "given": "Laura", "initials": "L"}, {"family": "Qiu", "given": "Zhen", "initials": "Z"}, {"family": "Frans\u00e9n", "given": "Erik", "initials": "E", "orcid": "0000-0003-0281-9450", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8637ab0257cb4d6bbed54277845b7886.json"}}, {"family": "Gokhale", "given": "Ragini", "initials": "R"}, {"family": "Bulovaite", "given": "Edita", "initials": "E"}, {"family": "Price", "given": "David J", "initials": "DJ"}, {"family": "Komiyama", "given": "Noboru H", "initials": "NH"}, {"family": "Grant", "given": "Seth G N", "initials": "SGN", "orcid": "0000-0001-8732-8735", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/323d4b49f8f941a7a12ef77eee7f872e.json"}}], "type": "journal article", "published": "2022-11-11", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "13", "issue": "1", "pages": "6836", "issn-l": "2041-1723"}, "abstract": "Neurodevelopmental disorders of genetic origin delay the acquisition of normal abilities and cause disabling phenotypes. Nevertheless, spontaneous attenuation and even complete amelioration of symptoms in early childhood and adolescence can occur in many disorders, suggesting that brain circuits possess an intrinsic capacity to overcome the deficits arising from some germline mutations. We examined the molecular composition of almost a trillion excitatory synapses on a brain-wide scale between birth and adulthood in mice carrying a mutation in the homeobox transcription factor Pax6, a neurodevelopmental disorder model. Pax6 haploinsufficiency had no impact on total synapse number at any age. By contrast, the molecular composition of excitatory synapses, the postnatal expansion of synapse diversity and the acquisition of normal synaptome architecture were delayed in all brain regions, interfering with networks and electrophysiological simulations of cognitive functions. Specific excitatory synapse types and subtypes were affected in two key developmental age-windows. These phenotypes were reversed within 2-3 weeks of onset, restoring synapse diversity and synaptome architecture to the normal developmental trajectory. Synapse subtypes with rapid protein turnover mediated the synaptome remodeling. This brain-wide capacity for remodeling of synapse molecular composition to recover and maintain the developmental trajectory of synaptome architecture may help confer resilience to neurodevelopmental genetic disorders.", "doi": "10.1038/s41467-022-34131-w", "pmid": "36369219", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC9652404"}, {"db": "pii", "key": "10.1038/s41467-022-34131-w"}], "notes": [], "created": "2026-08-21T11:49:11.008Z", "modified": "2026-08-21T11:49:11.114Z"}, {"entity": "publication", "iuid": "d2deb1eba20a40ceb5fa9bc7ed8e392f", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/d2deb1eba20a40ceb5fa9bc7ed8e392f.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/d2deb1eba20a40ceb5fa9bc7ed8e392f"}}, "title": "A brainwide atlas of synapses across the mouse life span.", "authors": [{"family": "Cizeron", "given": "M\u00e9lissa", "initials": "M", "orcid": "0000-0002-2124-1917", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/86119983484344fab89a4b42b897ddd4.json"}}, {"family": "Qiu", "given": "Zhen", "initials": "Z", "orcid": "0000-0002-0226-7855", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0c92db2c86194dd79ddb8d14de2dd669.json"}}, {"family": "Koniaris", "given": "Babis", "initials": "B", "orcid": "0000-0002-1792-5224", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f8f69ade0b184684a94e3c7a57ec48c3.json"}}, {"family": "Gokhale", "given": "Ragini", "initials": "R"}, {"family": "Komiyama", "given": "Noboru H", "initials": "NH", "orcid": "0000-0001-9960-3597", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c530d669f9fe473595e0119adc2c7a28.json"}}, {"family": "Frans\u00e9n", "given": "Erik", "initials": "E", "orcid": "0000-0003-0281-9450", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8637ab0257cb4d6bbed54277845b7886.json"}}, {"family": "Grant", "given": "Seth G N", "initials": "SGN", "orcid": "0000-0001-8732-8735", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/323d4b49f8f941a7a12ef77eee7f872e.json"}}], "type": "journal article", "published": "2020-07-17", "journal": {"title": "Science (New York, N.Y.)", "issn": "1095-9203", "volume": "369", "issue": "6501", "pages": "270-275", "issn-l": "0036-8075"}, "abstract": "Synapses connect neurons together to form the circuits of the brain, and their molecular composition controls innate and learned behavior. We analyzed the molecular and morphological diversity of 5 billion excitatory synapses at single-synapse resolution across the mouse brain from birth to old age. A continuum of changes alters synapse composition in all brain regions across the life span. Expansion in synapse diversity produces differentiation of brain regions until early adulthood, and compositional changes cause dedifferentiation in old age. The spatiotemporal synaptome architecture of the brain potentially accounts for life-span transitions in intellectual ability, memory, and susceptibility to behavioral disorders.", "doi": "10.1126/science.aba3163", "pmid": "32527927", "labels": [], "xrefs": [{"db": "mid", "key": "EMS86451"}, {"db": "pmc", "key": "PMC7115813"}, {"db": "pii", "key": "science.aba3163"}], "notes": [], "created": "2026-08-21T12:23:17.848Z", "modified": "2026-08-21T12:23:18.073Z"}]}