Search Results - "Hartikainen, Päivi H"

Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity by Palmio, Johanna, Kiviranta, Panu, Hartikainen, Päivi H, Isohanni, Pirjo, Auranen, Mari, Videman, Karoliina, Penttilä, Sini, Lehtinen, Sara, Kirjavainen, Jarkko, Hintikka, Susanna, Paloviita, Katriina, Saarela, Janna, Udd, Bjarne

“…Description of 15 patients with the same variant in causing congenital myasthenic syndrome (CMS). Nine adult and 6 pediatric patients were studied with…”
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Unusual clinical presentation and neuropathology in two subjects with fused‐in sarcoma (FUS) positive inclusions by Hartikainen, Päivi H., Pikkarainen, Maria, Hänninen, Tuomo, Soininen, Hilkka, Alafuzoff, Irina

“…We report two unusual autopsy cases with frontotemporal lobar degeneration (FTLD) that were hyperphosphorylated‐tau‐ and TAR DNA binding protein 43 (TDP‐43)‐…”
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Unusual clinical presentation and neuropathology in two subjects with fused-in sarcoma (FUS) positive inclusions by Hartikainen, Päivi H., Pikkarainen, Maria, Hänninen, Tuomo, Soininen, Hilkka, Alafuzoff, Irina

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