检索结果 - Lohmann, Ebba

Needs and Requirements of Modern Biobanks on the Example of Dystonia Syndromes 由 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 由 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() 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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