Publications by authors named "Filip Rosa"

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K7.2 channel dysfunction delays neuronal maturation and undermines early network development in a hiPSC model of KCNQ2-DEE.
Filip Rosa, Stephan Theiss, Susanne Krepp, Heidi Loeffler, Dulini C Mendis

Neurobiol Dis· November 2025

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Generation of an induced pluripotent stem cell (iPSC) line carrying a KCNA2 homozygous (p.Arg294His, R294H) mutation related to hereditary spastic paraplegia.
Hang Lyu, Carolin Haag, Niklas Schwarz, Heidi Löffler, Ulrike A Mau-Holzmann, Filip Rosa

Stem Cell Res· August 2025

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In Vitro Differentiated Human Stem Cell-Derived Neurons Reproduce Synaptic Synchronicity Arising during Neurodevelopment.
Filip Rosa, Ashutosh Dhingra, Betül Uysal, G Dulini C Mendis, Heidi Loeffler

Stem Cell Reports· July 2020

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A gaze-triggered downbeat nystagmus persisting in primary position in a patient with hypomagnesemia combined with anti-SOX1.
Filip Rosa, Alexander Grimm, Katja Ambjoernsen, Jörn K Pomper

J Neurol Sci· May 2020

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Generation of an induced pluripotent stem cell (iPSC) line (HIHDNEi003-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Thr374Ala) mutation.
Betül Uysal, Heidi Löffler, Filip Rosa, Holger Lerche, Niklas Schwarz

Stem Cell Res· October 2019

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Establishment of a human induced pluripotent stem cell (iPSC) line (HIHDNEi002-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Arg297Gln) mutation.
Niklas Schwarz, Betül Uysal, Filip Rosa, Heidi Löffler, Ulrike A Mau-Holzmann

Stem Cell Res· May 2019

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Generation of an induced pluripotent stem cell (iPSC) line from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Leu328Val) mutation.
Niklas Schwarz, Betül Uysal, Filip Rosa, Heidi Löffler, Ulrike A Mau-Holzmann

Stem Cell Res· December 2018

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