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Page 1
Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease.
Gaig C, Compta Y, Heidbreder A, Marti MJ, Titulaer MJ, Crijnen Y, Högl B, Lewerenz J, Erro ME, García-Moncó JC, Nigro P, Tambasco N, Patalong-Ogiewa M, Erdler M, Macher S, Berger-Sieczkowski E, Höftberger R, Geis C, Hutterer M, Milán-Tomás A, Martin-Bastida A, Manzanares LL, Quintas S, Höglinger GU, Möhn N, Schöberl F, Thaler FS, Asioli GM, Provini F, Plazzi G, Berganzo K, Blaabjerg M, Brüggemann N, Farias T, Ng CF, Giordana C, Herrero-San Martín A, Huebra L, Kotschet K, Liendl H, Montojo T, Morata C, Pérez-Pérez J, Puertas I, Seifert-Held T, Seitz C, Simabukuro MM, Téllez N, Villacieros-Álvarez J, Willekens B, Sabater L, Iranzo A, Santamaria J, Dalmau J, Graus F. Gaig C, et al. Among authors: kotschet k. Neurology. 2021 Oct 4;97(14):e1367-e1381. doi: 10.1212/WNL.0000000000012639. Neurology. 2021. PMID: 34380749 Free PMC article.
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.
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
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.
Weber YG, Kamm C, Suls A, Kempfle J, Kotschet K, Schüle R, Wuttke TV, Maljevic S, Liebrich J, Gasser T, Ludolph AC, Van Paesschen W, Schöls L, De Jonghe P, Auburger G, Lerche H. Weber YG, et al. Among authors: kotschet k. Neurology. 2011 Sep 6;77(10):959-64. doi: 10.1212/WNL.0b013e31822e0479. Epub 2011 Aug 10. Neurology. 2011. PMID: 21832227
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.
Stam AH, Kothari PH, Shaikh A, Gschwendter A, Jen JC, Hodgkinson S, Hardy TA, Hayes M, Kempster PA, Kotschet KE, Bajema IM, van Duinen SG, Maat-Schieman MLC, de Jong PTVM, de Smet MD, de Wolff-Rouendaal D, Dijkman G, Pelzer N, Kolar GR, Schmidt RE, Lacey J, Joseph D, Fintak DR, Grand MG, Brunt EM, Liapis H, Hajj-Ali RA, Kruit MC, van Buchem MA, Dichgans M, Frants RR, van den Maagdenberg AMJM, Haan J, Baloh RW, Atkinson JP, Terwindt GM, Ferrari MD. Stam AH, et al. Brain. 2016 Nov 1;139(11):2909-2922. doi: 10.1093/brain/aww217. Brain. 2016. PMID: 27604306 Free PMC 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.
FOSMN syndrome: novel insight into disease pathophysiology.
Vucic S, Stein TD, Hedley-Whyte ET, Reddel SR, Tisch S, Kotschet K, Cros D, Kiernan MC. Vucic S, et al. Among authors: kotschet k. Neurology. 2012 Jul 3;79(1):73-9. doi: 10.1212/WNL.0b013e31825dce13. Epub 2012 Jun 20. Neurology. 2012. PMID: 22722633
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, Kane MJ, Mamsa H, Schäfer R, Stam AH, Haan J, de Jong PT, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RW, Ferrari MD, Atkinson JP. Richards A, et al. Nat Genet. 2007 Sep;39(9):1068-70. doi: 10.1038/ng2082. Epub 2007 Jul 29. Nat Genet. 2007. PMID: 17660820
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.
Kumar KR, Davis RL, Tchan MC, Wali GM, Mahant N, Ng K, Kotschet K, Siow SF, Gu J, Walls Z, Kang C, Wali G, Levy S, Phua CS, Yiannikas C, Darveniza P, Chang FCF, Morales-Briceño H, Rowe DB, Drew A, Gayevskiy V, Cowley MJ, Minoche AE, Tisch S, Hayes M, Kummerfeld S, Fung VSC, Sue CM. Kumar KR, et al. Among authors: kotschet k. Parkinsonism Relat Disord. 2019 Dec;69:111-118. doi: 10.1016/j.parkreldis.2019.11.004. Epub 2019 Nov 7. Parkinsonism Relat Disord. 2019. PMID: 31731261 Free article.
28 results