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Year Number of Results
2005 1
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2018 2
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31 results

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Page 1
Clinical manifestations of the anti-IgLON5 disease.
Gaig C, Graus F, Compta Y, Högl B, Bataller L, Brüggemann N, Giordana C, Heidbreder A, Kotschet K, Lewerenz J, Macher S, Martí MJ, Montojo T, Pérez-Pérez J, Puertas I, Seitz C, Simabukuro M, Téllez N, Wandinger KP, Iranzo A, Ercilla G, Sabater L, Santamaría J, Dalmau J. Gaig C, et al. Among authors: kotschet k. Neurology. 2017 May 2;88(18):1736-1743. doi: 10.1212/WNL.0000000000003887. Epub 2017 Apr 5. Neurology. 2017. PMID: 28381508 Free PMC article.
Tominersen in Adults with Manifest Huntington's Disease.
McColgan P, Thobhani A, Boak L, Schobel SA, Nicotra A, Palermo G, Trundell D, Zhou J, Schlegel V, Sanwald Ducray P, Hawellek DJ, Dorn J, Simillion C, Lindemann M, Wheelock V, Durr A, Anderson KE, Long JD, Wild EJ, Landwehrmeyer GB, Leavitt BR, Tabrizi SJ, Doody R; GENERATION HD1 Investigators. McColgan P, et al. N Engl J Med. 2023 Dec 7;389(23):2203-2205. doi: 10.1056/NEJMc2300400. N Engl J Med. 2023. PMID: 38055260 No abstract available.
Early Treatment With Intravenous Immunoglobulins and Outcomes of Patients With Anti-IgLON5 Disease.
Grüter T, Gaig C, Crijnen YS, Titulaer MJ, Sabater L, Heidbreder A, Dargvainiene J, Tietz A, Kovac S, Dik A, Erro ME, Lewerenz J, Kraft A, Seifert F, Höftberger R, Thaler FS, de Azevedo L, Wickel J, de Vries JM, Boon AJW, van Steenhoven RW, Gold R, Wandinger KP, Kuhlenbäumer G, Dalmau JO, Leypoldt F, Graus F, Ayzenberg I; Anti-IgLON5 Disease Study Group. Grüter T, et al. JAMA Neurol. 2025 Oct 1;82(10):1040-1047. doi: 10.1001/jamaneurol.2025.2574. JAMA Neurol. 2025. PMID: 40758377
Genome sequencing reanalysis increases the diagnostic yield in dystonia.
Fellner A, Wali GM, Mahant N, Grosz BR, Ellis M, Narayanan RK, Ng K, Davis RL, Tchan MC, Kotschet K, Yeow D, Rudaks LI, Siow SF, Wali G, Yiannikas C, Hobbs M, Copty J, Geaghan M, Darveniza P, Liang C, Williams LJ, Chang FCF, Morales-Briceño H, Tisch S, Hayes M, Whyte S, Kummerfeld S, Kennerson ML, Cowley MJ, Fung VSC, Sue CM, Kumar KR. Fellner A, et al. Among authors: kotschet k. Parkinsonism Relat Disord. 2024 Jul;124:107010. doi: 10.1016/j.parkreldis.2024.107010. Epub 2024 May 14. Parkinsonism Relat Disord. 2024. PMID: 38772265 Free article.
Treatable inherited rare movement disorders.
Jinnah HA, Albanese A, Bhatia KP, Cardoso F, Da Prat G, de Koning TJ, Espay AJ, Fung V, Garcia-Ruiz PJ, Gershanik O, Jankovic J, Kaji R, Kotschet K, Marras C, Miyasaki JM, Morgante F, Munchau A, Pal PK, Rodriguez Oroz MC, Rodríguez-Violante M, Schöls L, Stamelou M, Tijssen M, Uribe Roca C, de la Cerda A, Gatto EM; International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders. Jinnah HA, et al. Among authors: kotschet k. Mov Disord. 2018 Jan;33(1):21-35. doi: 10.1002/mds.27140. Epub 2017 Sep 1. Mov Disord. 2018. PMID: 28861905 Free PMC article. Review.
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.
Rafehi H, Fearnley LG, Read J, Snell P, Davies KC, Scott L, Gillies G, Thompson GC, Field TA, Eldo A, Bodek S, Butler E, Chen L, Drago J, Goel H, Hackett A, Halmagyi GM, Hannaford A, Kotschet K, Kumar KR, Kumble S, Lee-Archer M, Malhotra A, Paine M, Poon M, Pope K, Reardon K, Ring S, Ronan A, Silsby M, Smyth R, Stutterd C, Wallis M, Waterston J, Wellings T, West K, Wools C, Wu KHC, Szmulewicz DJ, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: kotschet k. Genome Res. 2025 Apr 14;35(4):769-785. doi: 10.1101/gr.279634.124. Genome Res. 2025. PMID: 40015980 Free PMC article.
Worldwide barriers to genetic testing for movement disorders.
Gatto EM, Walker RH, Gonzalez C, Cesarini M, Cossu G, Stephen CD, Balint B, Rodríguez-Violante M, Jankovic J, Morgante F, Jinnah HA; Rare Movement Disorders Study Group of the International Parkinson Disease, Movement Disorders Society. Gatto EM, et al. Eur J Neurol. 2021 Jun;28(6):1901-1909. doi: 10.1111/ene.14826. Epub 2021 Apr 9. Eur J Neurol. 2021. PMID: 33730413
31 results