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Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Thomsen M, Marth K, Loens S, Everding J, Junker J, Borngräber F, Ott F, Jesús S, Gelderblom M, Odorfer T, Kuhlenbäumer G, Kim HJ, Schaeffer E, Becktepe J, Kasten M, Brüggemann N, Pfister R, Kollewe K, Krauss JK, Lohmann E, Hinrichs F, Berg D, Jeon B, Busch H, Altenmüller E, Mir P, Kamm C, Volkmann J, Zittel S, Ferbert A, Zeuner KE, Rolfs A, Bauer P, Kühn AA, Bäumer T, Klein C, Lohmann K. Thomsen M, et al. Among authors: lohmann e. Mov Disord. 2024 Mar;39(3):526-538. doi: 10.1002/mds.29693. Epub 2024 Jan 12. Mov Disord. 2024. PMID: 38214203
Differences in Survival across Monogenic Forms of Parkinson's Disease.
Lanore A, Casse F, Tesson C, Courtin T, Menon PJ, Sambin S, Mangone G, Mariani LL, Lesage S, Brice A, Elbaz A, Corvol JC; French Clinicians Network for Parkinson's Disease Genetics (the PDG Group). Lanore A, et al. Ann Neurol. 2023 Jul;94(1):123-132. doi: 10.1002/ana.26636. Epub 2023 Mar 27. Ann Neurol. 2023. PMID: 36905164
LRRK2 mutations are uncommon in Turkey.
Hanagasi HA, Lohmann E, Dursun B, Honoré A, Lesage S, Dogu O, Kaleagasi H, Aydın O, Gürvit H, Erginel-Unaltuna N, Brice A, Emre M. Hanagasi HA, et al. Among authors: lohmann e. Eur J Neurol. 2011 Oct;18(10):e137. doi: 10.1111/j.1468-1331.2011.03471.x. Eur J Neurol. 2011. PMID: 21914047 No abstract available.
Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease.
Guerreiro RJ, Lohmann E, Kinsella E, Brás JM, Luu N, Gurunlian N, Dursun B, Bilgic B, Santana I, Hanagasi H, Gurvit H, Gibbs JR, Oliveira C, Emre M, Singleton A. Guerreiro RJ, et al. Among authors: lohmann e. Neurobiol Aging. 2012 May;33(5):1008.e17-23. doi: 10.1016/j.neurobiolaging.2011.10.009. Epub 2011 Dec 6. Neurobiol Aging. 2012. PMID: 22153900 Free PMC article.
136 results