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Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Traschütz A, Schirinzi T, Laugwitz L, Murray NH, Bingman CA, Reich S, Kern J, Heinzmann A, Vasco G, Bertini E, Zanni G, Durr A, Magri S, Taroni F, Malandrini A, Baets J, de Jonghe P, de Ridder W, Bereau M, Demuth S, Ganos C, Basak AN, Hanagasi H, Kurul SH, Bender B, Schöls L, Grasshoff U, Klopstock T, Horvath R, van de Warrenburg B, Burglen L, Rougeot C, Ewenczyk C, Koenig M, Santorelli FM, Anheim M, Munhoz RP, Haack T, Distelmaier F, Pagliarini DJ, Puccio H, Synofzik M. Traschütz A, et al. Among authors: hanagasi h. Ann Neurol. 2020 Aug;88(2):251-263. doi: 10.1002/ana.25751. Epub 2020 Jun 10. Ann Neurol. 2020. PMID: 32337771 Free PMC article.
Clinical variability in ataxia-telangiectasia.
Lohmann E, Krüger S, Hauser AK, Hanagasi H, Guven G, Erginel-Unaltuna N, Biskup S, Gasser T. Lohmann E, et al. Among authors: hanagasi h. J Neurol. 2015 Jul;262(7):1724-7. doi: 10.1007/s00415-015-7762-z. Epub 2015 May 10. J Neurol. 2015. PMID: 25957637
Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
Lesage S, Lunati A, Houot M, Romdhan SB, Clot F, Tesson C, Mangone G, Toullec BL, Courtin T, Larcher K, Benmahdjoub M, Arezki M, Bouhouche A, Anheim M, Roze E, Viallet F, Tison F, Broussolle E, Emre M, Hanagasi H, Bilgic B, Tazir M, Djebara MB, Gouider R, Tranchant C, Vidailhet M, Le Guern E, Corti O, Mhiri C, Lohmann E, Singleton A, Corvol JC, Brice A; French Parkinson Disease Genetics Study Group. Lesage S, et al. Among authors: hanagasi h. Ann Neurol. 2020 Oct;88(4):843-850. doi: 10.1002/ana.25787. Epub 2020 Jul 28. Ann Neurol. 2020. PMID: 33045815 Free PMC article.
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
Traschütz A, Reich S, Adarmes AD, Anheim M, Ashrafi MR, Baets J, Basak AN, Bertini E, Brais B, Gagnon C, Gburek-Augustat J, Hanagasi HA, Heinzmann A, Horvath R, de Jonghe P, Kamm C, Klivenyi P, Klopstock T, Minnerop M, Münchau A, Renaud M, Roxburgh RH, Santorelli FM, Schirinzi T, Sival DA, Timmann D, Vielhaber S, Wallner M, van de Warrenburg BP, Zanni G, Zuchner S, Klockgether T, Schüle R, Schöls L; PREPARE Consortium; Synofzik M. Traschütz A, et al. Among authors: hanagasi ha. Front Neurol. 2021 Jun 25;12:677551. doi: 10.3389/fneur.2021.677551. eCollection 2021. Front Neurol. 2021. PMID: 34248822 Free PMC article. Review.
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.
Fevga C, Tesson C, Carreras Mascaro A, Courtin T, van Coller R, Sakka S, Ferraro F, Farhat N, Bardien S, Damak M, Carr J, Ferrien M, Boumeester V, Hundscheid J, Grillenzoni N, Kessissoglou IA, Kuipers DJS, Quadri M; French and Mediterranean Parkinson disease Genetics Study Group; International Parkinsonism Genetics Network; Corvol JC, Mhiri C, Hassan BA, Breedveld GJ, Lesage S, Mandemakers W, Brice A, Bonifati V. Fevga C, et al. Brain. 2023 Apr 19;146(4):1496-1510. doi: 10.1093/brain/awac326. Brain. 2023. PMID: 36073231 Free PMC article.
163 results