Rezultaty - Lohmann, Ebba

Needs and Requirements of Modern Biobanks on the Example of Dystonia Syndromes od Lohmann, Ebba, Gasser, Thomas, Grundmann, Kathrin

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LRRK2 Haplotype Analyses in European and North African Families with Parkinson Disease: A Common Founder for the G2019S Mutation Dating from the 13th Century od Lesage, Suzanne , Leutenegger, Anne-Louise , Ibanez, Pablo , Janin, Sabine , Lohmann, Ebba , Dürr, Alexandra , Brice, Alexis 

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A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family() od Guerreiro, Rita, Bilgic, Basar, Guven, Gamze, Brás, José, Rohrer, Jonathan, Lohmann, Ebba, Hanagasi, Hasmet, Gurvit, Hakan, Emre, Murat

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Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia od Brownjohn, Philip W., Smith, James, Solanki, Ravi, Lohmann, Ebba, Houlden, Henry, Hardy, John, Dietmann, Sabine, Livesey, Frederick J.

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The Relationship of White Matter Hyperintensities with Depressive Symptoms and Daily Living Activities in Early-Stage Alzheimer’s Disease Patients od BİLGİÇ, Başar, BAYRAM, Ali, HANAĞASI, Haşmet A., TÜMAÇ, Ayfer, UYSAL, Pınar, ŞENTÜRK, Gülben, ALPSAN, Hale, LOHMANN, Ebba, GÜRVİT, Hakan, EMRE, Murat

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PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism od Giri, Anamika, Guven, Gamze, Hanagasi, Hasmet, Hauser, Ann-Kathrin, Erginul-Unaltuna, Nihan, Bilgic, Basar, Gurvit, Hakan, Heutink, Peter, Gasser, Thomas, Lohmann, Ebba, Simón-Sánchez, Javier

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A comprehensive analysis of copy number variation in a Turkish dementia cohort od Dehghani, Nadia, Guven, Gamze, Kun-Rodrigues, Celia, Gouveia, Catarina, Foster, Kalina, Hanagasi, Hasmet, Lohmann, Ebba, Samanci, Bedia, Gurvit, Hakan, Bilgic, Basar, Bras, Jose, Guerreiro, Rita

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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 od Guven, Gamze, Bilgic, Başar, Tufekcioglu, Zeynep, Erginel Unaltuna, Nihan, Hanagasi, Hasmet, Gurvit, Hakan, Singleton, Andrew, Hardy, John, Emre, Murat, Gulec, Cagri, Bras, Jose, Guerreiro, Rita, Lohmann, Ebba

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Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement od Guerreiro, Rita João, Lohmann, Ebba, Brás, José Miguel, Gibbs, Jesse Raphael, Rohrer, Jonathan D., Gurunlian, Nicole, Dursun, Burcu, Bilgic, Basar, Hanagasi, Hasmet, Gurvit, Hakan, Emre, Murat, Singleton, Andrew, Hardy, John

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Mutations in TYROBP are not a common cause of dementia in a Turkish cohort od Darwent, Lee, Carmona, Susana, Lohmann, Ebba, Guven, Gamze, Kun-Rodrigues, Celia, Bilgic, Basar, Hanagasi, Hasmet, Gurvit, Hakan, Erginel-Unaltuna, Nihan, Pak, Meltem, Hardy, John, Singleton, Andrew, Brás, Jose, Guerreiro, Rita

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Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review od Atasu, Burcu, Acarlı, Ayse Nur Ozdag, Bilgic, Basar, Baykan, Betül, Demir, Erol, Ozluk, Yasemin, Turkmen, Aydin, Hauser, Ann-Kathrin, Guven, Gamze, Hanagasi, Hasmet, Gurvit, Hakan, Emre, Murat, Gasser, Thomas, Lohmann, Ebba

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Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease od Guerreiro, Rita Joao, Lohmann, Ebba, Kinsella, Emma, Bras, Jose Miguel, Luu, Nga, Gurulian, Nicole, Dursun, Burcu, Bilgi, Basar, Santana, Isabel, Hanagasi, Hasmet, Gurvit, Hakan, Gibbs, Raphael, Oliveira, Catarina, Emre, Murat, Singleton, Andrew

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Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients od Guven, Gamze, Lohmann, Ebba, Bras, Jose, Gibbs, J. Raphael, Gurvit, Hakan, Bilgic, Basar, Hanagasi, Hasmet, Rizzu, Patrizia, Heutink, Peter, Emre, Murat, Erginel-Unaltuna, Nihan, Just, Walter, Hardy, John, Singleton, Andrew, Guerreiro, Rita

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Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia od Pogoda, Michaela, Hilke, Franz-Joachim, Lohmann, Ebba, Sturm, Marc, Lenz, Florian, Matthes, Jakob, Muyas, Francesc, Ossowski, Stephan, Hoischen, Alexander, Faust, Ulrike, Sepahi, Ilnaz, Casadei, Nicolas, Poths, Sven, Riess, Olaf, Schroeder, Christopher, Grundmann, Kathrin

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A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson’s disease od Fevga, Christina, Park, Yangshin, Lohmann, Ebba, Kievit, Anneke J., Breedveld, Guido J., Ferraro, Federico, de Boer, Leon, van Minkelen, Rick, Hanagasi, Hasmet, Boon, Agnita, Wang, Wei, Petsko, Gregory A., Hoang, Quyen Q., Emre, Murat, Bonifati, Vincenzo

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The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort od Mencacci, Niccolo E., R'bibo, Léa, Bandres-Ciga, Sara, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Garavaglia, Barbara, Batla, Amit, Bhatia, Kailash P., Pittman, Alan M., Hardy, John, Weissbach, Anne, Klein, Christine, Gasser, Thomas, Lohmann, Ebba, Wood, Nicholas W.

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Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort od Lesage, Suzanne, Houot, Marion, Mangone, Graziella, Tesson, Christelle, Bertrand, Hélène, Forlani, Sylvie, Anheim, Mathieu, Brefel-Courbon, Christine, Broussolle, Emmanuel, Thobois, Stéphane, Damier, Philippe, Durif, Franck, Roze, Emmanuel, Tison, François, Grabli, David, Ory-Magne, Fabienne, Degos, Bertrand, Viallet, François, Cormier-Dequaire, Florence, Ouvrard-Hernandez, Anne-Marie, Vidailhet, Marie, Lohmann, Ebba, Singleton, Andrew, Corvol, Jean-Christophe, Brice, Alexis

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Characterization of Recessive Parkinson Disease in a Large Multicenter Study od Lesage, Suzanne, Lunati, Ariane, Houot, Marion, Romdhan, Sawssan Ben, Clot, Fabienne, Tesson, Christelle, Mangone, Graziella, Toullec, Benjamin Le, Courtin, Thomas, Larcher, Kathy, Benmahdjoub, Mustapha, Arezki, Mohamed, Bouhouche, Ahmed, Anheim, Mathieu, Roze, Emmanuel, Viallet, François, Tison, François, Broussolle, Emmanuel, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Tazir, Meriem, Djebara, Mouna Ben, Gouider, Riadh, Tranchant, Christine, Vidailhet, Marie, Le Guern, Eric, Corti, Olga, Mhiri, Chokri, Lohmann, Ebba, Singleton, Andrew, Corvol, Jean-Christophe, Brice, Alexis

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PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice od Messerschmidt, Clemens, Foddis, Marco, Blumenau, Sonja, Müller, Susanne, Bentele, Kajetan, Holtgrewe, Manuel, Kun-Rodrigues, Celia, Alonso, Isabel, do Carmo Macario, Maria, Morgadinho, Ana Sofia, Velon, Ana Graça, Santo, Gustavo, Santana, Isabel, Mönkäre, Saana, Kuuluvainen, Liina, Schleutker, Johanna, Pöyhönen, Minna, Myllykangas, Liisa, Senatore, Assunta, Berchtold, Daniel, Winek, Katarzyna, Meisel, Andreas, Pavlovic, Aleksandra, Kostic, Vladimir, Dobricic, Valerija, Lohmann, Ebba, Hanagasi, Hasmet, Guven, Gamze, Bilgic, Basar, Bras, Jose, Guerreiro, Rita, Beule, Dieter, Dirnagl, Ulrich, Sassi, Celeste

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A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia od Mencacci, Niccolo E., Rubio-Agusti, Ignacio, Zdebik, Anselm, Asmus, Friedrich, Ludtmann, Marthe H.R., Ryten, Mina, Plagnol, Vincent, Hauser, Ann-Kathrin, Bandres-Ciga, Sara, Bettencourt, Conceição, Forabosco, Paola, Hughes, Deborah, Soutar, Marc M.P., Peall, Kathryn, Morris, Huw R., Trabzuni, Daniah, Tekman, Mehmet, Stanescu, Horia C., Kleta, Robert, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Garavaglia, Barbara, Lohmann, Ebba, Weissbach, Anne, Klein, Christine, Hardy, John, Pittman, Alan M., Foltynie, Thomas, Abramov, Andrey Y., Gasser, Thomas, Bhatia, Kailash P., Wood, Nicholas W.

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