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Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies.
Domínguez Carral J, Reinhard C, Ebrahimi-Fakhari D, Dorison N, Galosi S, Garone G, Malenica M, Ravelli C, Serdaroglu E, van de Pol LA, Koy A, Leuzzi V, Roubertie A, Lin JP, Doummar D, Cif L, Ortigoza-Escobar JD. Domínguez Carral J, et al. Among authors: koy a. Front Neurol. 2024 Jun 6;15:1403815. doi: 10.3389/fneur.2024.1403815. eCollection 2024. Front Neurol. 2024. PMID: 38903163 Free PMC article.
Spectrum of Clinical and Imaging Features of Children With GFAP Astrocytopathy.
Sommer S, Panzer A, Bertolini A, Cleaveland R, Jain V, Kapanci T, Derichs U, Geis T, Neu A, Löhr-Nilles C, Aeschimann-Huhn R, Flotats-Bastardas M, Deiva K, Armangue T, Olivé-Cirera G, Kannoth S, Koy A, Meirson H, Fattal-Valevski A, Ganelin-Cohen E, Losch H, Horne A, Wickström R, Dargvainiene J, Leypoldt F, Rostasy K. Sommer S, et al. Among authors: koy a. Neurol Neuroimmunol Neuroinflamm. 2025 Jan;12(1):e200327. doi: 10.1212/NXI.0000000000200327. Epub 2024 Nov 20. Neurol Neuroimmunol Neuroinflamm. 2025. PMID: 39566024 Free article.
Dystonia caused by ANO3 variants is due to attenuated Ca2+ influx by ORAI1.
Ousingsawat J, Talbi K, Gómez-Martín H, Koy A, Fernández-Jaén A, Tekgül H, Serdaroğlu E, Ortigoza-Escobar JD, Schreiber R, Kunzelmann K. Ousingsawat J, et al. Among authors: koy a. BMC Med. 2025 Jan 7;23(1):12. doi: 10.1186/s12916-024-03839-5. BMC Med. 2025. PMID: 39773217 Free PMC article.
Skin pigmented lesions in the hands of an ambulatory surgeon.
Troup O, Růžičková A, Koy A, Woznica V, Třešková I. Troup O, et al. Among authors: koy a. Rozhl Chir. 2024;103(10):381-386. doi: 10.48095/ccrvch2024381. Rozhl Chir. 2024. PMID: 39772782 Review. English.
The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
Möller B, Becker LL, Saffari A, Afenjar A, Coci EG, Williamson R, Ward-Melver C, Gibaud M, Sedláčková L, Laššuthová P, Libá Z, Vlčková M, William N, Klee EW, Gavrilova RH, Lévy J, Capri Y, Scavina M, Körner RW, Valuvullah Z, Weiß C, Möller GM, Thiel M, Sinnema M, Kamsteeg EJ, Donkervoort S, Duboc V, Zaafrane-Khachnaoui K, Elkhateeb N, Selim L, Margot H, Marin V, Beneteau C, Isidor B, Cogne B, Keren B, Küsters B, Beggs AH, Genetti CA, Nicolai J, Dötsch J, Koy A, Bönnemann CG, von der Hagen M, von Kleist-Retzow JC, Voermans N, Jungbluth H, Dafsari HS. Möller B, et al. Among authors: koy a. Brain. 2024 Jun 8:awae183. doi: 10.1093/brain/awae183. Online ahead of print. Brain. 2024. PMID: 38848546
Diffusion tensor imaging in pediatric patients with dystonia.
Loução R, Burkhardt J, Wirths J, Kabbasch C, Dembek TA, Heiden P, Cirak S, Al-Fatly B, Treuer H, Visser-Vandewalle V, Hoevels M, Koy A. Loução R, et al. Among authors: koy a. Neuroimage. 2024 Feb 15;287:120507. doi: 10.1016/j.neuroimage.2024.120507. Epub 2024 Jan 18. Neuroimage. 2024. PMID: 38244876 Free article.
50 results