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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
Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.
Tomiyasu A, Nakamura M, Ichiba M, Ueno S, Saiki S, Morimoto M, Kobal J, Kageyama Y, Inui T, Wakabayashi K, Yamada T, Kanemori Y, Jung HH, Tanaka H, Orimo S, Afawi Z, Blatt I, Aasly J, Ujike H, Babovic-Vuksanovic D, Josephs KA, Tohge R, Rodrigues GR, Dupré N, Yamada H, Yokochi F, Kotschet K, Takei T, Rudzińska M, Szczudlik A, Penco S, Fujiwara M, Tojo K, Sano A. Tomiyasu A, et al. Among authors: kotschet k. Am J Med Genet B Neuropsychiatr Genet. 2011 Jul;156B(5):620-31. doi: 10.1002/ajmg.b.31206. Epub 2011 May 19. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21598378
Dopamine dysregulation syndrome, impulse control disorders and punding after deep brain stimulation surgery for Parkinson's disease.
Lim SY, O'Sullivan SS, Kotschet K, Gallagher DA, Lacey C, Lawrence AD, Lees AJ, O'Sullivan DJ, Peppard RF, Rodrigues JP, Schrag A, Silberstein P, Tisch S, Evans AH. Lim SY, et al. Among authors: kotschet k. J Clin Neurosci. 2009 Sep;16(9):1148-52. doi: 10.1016/j.jocn.2008.12.010. Epub 2009 Jun 23. J Clin Neurosci. 2009. PMID: 19553125
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.
Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism.
Loesch DZ, Khaniani MS, Slater HR, Rubio JP, Bui QM, Kotschet K, D'Souza W, Venn A, Kalitsis P, Choo AK, Burgess T, Johnson L, Evans A, Horne M. Loesch DZ, et al. Among authors: kotschet k. Clin Genet. 2009 Nov;76(5):471-6. doi: 10.1111/j.1399-0004.2009.01275.x. Epub 2009 Sep 30. Clin Genet. 2009. PMID: 19796183 Free PMC article.
Sensitive and specific detection of α-synuclein in human plasma.
Tinsley RB, Kotschet K, Modesto D, Ng H, Wang Y, Nagley P, Shaw G, Horne MK. Tinsley RB, et al. Among authors: kotschet k. J Neurosci Res. 2010 Sep;88(12):2693-700. doi: 10.1002/jnr.22417. J Neurosci Res. 2010. PMID: 20648655
Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.
Loesch DZ, Godler DE, Evans A, Bui QM, Gehling F, Kotschet KE, Trost N, Storey E, Stimpson P, Kinsella G, Francis D, Thorburn DR, Venn A, Slater HR, Horne M. Loesch DZ, et al. Genet Med. 2011 May;13(5):392-9. doi: 10.1097/GIM.0b013e3182064362. Genet Med. 2011. PMID: 21270637 Free PMC article.
29 results