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Page 1
PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism.
Giri A, Guven G, Hanagasi H, Hauser AK, Erginul-Unaltuna N, Bilgic B, Gurvit H, Heutink P, Gasser T, Lohmann E, Simón-Sánchez J. Giri A, et al. Among authors: guven g. Tremor Other Hyperkinet Mov (N Y). 2016 Mar 16;6:363. doi: 10.7916/D81G0M12. eCollection 2016. Tremor Other Hyperkinet Mov (N Y). 2016. PMID: 27127721 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: guven g. J Neurol. 2015 Jul;262(7):1724-7. doi: 10.1007/s00415-015-7762-z. Epub 2015 May 10. J Neurol. 2015. PMID: 25957637
A new F-box protein 7 gene mutation causing typical Parkinson's disease.
Lohmann E, Coquel AS, Honoré A, Gurvit H, Hanagasi H, Emre M, Leutenegger AL, Drouet V, Sahbatou M, Guven G, Erginel-Unaltuna N, Deleuze JF, Lesage S, Brice A. Lohmann E, et al. Among authors: guven g. Mov Disord. 2015 Jul;30(8):1130-3. doi: 10.1002/mds.26266. Epub 2015 May 23. Mov Disord. 2015. PMID: 26010069
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A; French Parkinson's Disease Genetics Study (PDG); International Parkinson's Disease Genomics Consortium (IPDGC). Lesage S, et al. Among authors: guven g. Am J Hum Genet. 2016 Mar 3;98(3):500-513. doi: 10.1016/j.ajhg.2016.01.014. Am J Hum Genet. 2016. PMID: 26942284 Free PMC article.
A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family.
Hanagasi HA, Giri A, Kartal E, Guven G, Bilgiç B, Hauser AK, Emre M, Heutink P, Basak N, Gasser T, Simón-Sánchez J, Lohmann E. Hanagasi HA, et al. Among authors: guven g. Parkinsonism Relat Disord. 2016 Aug;29:117-20. doi: 10.1016/j.parkreldis.2016.03.001. Epub 2016 Mar 3. Parkinsonism Relat Disord. 2016. PMID: 26972524
Mutations in TYROBP are not a common cause of dementia in a Turkish cohort.
Darwent L, Carmona S, Lohmann E, Guven G, Kun-Rodrigues C, Bilgic B, Hanagasi H, Gurvit H, Erginel-Unaltuna N, Pak M, Hardy J, Singleton A, Brás J, Guerreiro R. Darwent L, et al. Among authors: guven g. Neurobiol Aging. 2017 Oct;58:240.e1-240.e3. doi: 10.1016/j.neurobiolaging.2017.06.019. Epub 2017 Jun 28. Neurobiol Aging. 2017. PMID: 28716534 Free PMC article.
HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype.
Atasu B, Hanagasi H, Bilgic B, Pak M, Erginel-Unaltuna N, Hauser AK, Guven G, Simón-Sánchez J, Heutink P, Gasser T, Lohmann E. Atasu B, et al. Among authors: guven g. Mov Disord. 2018 Aug;33(8):1354-1358. doi: 10.1002/mds.27442. Epub 2018 Aug 25. Mov Disord. 2018. PMID: 30145809
Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia.
Guven G, Bilgic B, Tufekcioglu Z, Erginel Unaltuna N, Hanagasi H, Gurvit H, Singleton A, Hardy J, Emre M, Gulec C, Bras J, Guerreiro R, Lohmann E. Guven G, et al. J Alzheimers Dis. 2019;67(1):159-167. doi: 10.3233/JAD-180599. J Alzheimers Dis. 2019. PMID: 30475763 Free PMC article.
195 results