Auflistung Universitätsbibliographie nach Autor "Rizzu, Patrizia"

DSpace Repositorium (Manakin basiert)

Auflistung Universitätsbibliographie nach Autor "Rizzu, Patrizia"

Sortiert nach: Sortierung: Ergebnisse:

  • A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia
    Seixas, Ana I.; Loureiro, Joana R.; Costa, Cristina; Ordonez-Ugalde, Andres; Marcelino, Hugo; Oliveira, Claudia L.; Loureiro, Jose L.; Dhingra, Ashutosh; Brandao, Eva; Cruz, Vitor T.; Timoteo, Angela; Quintans, Beatriz; Rouleau, Guy A.; Rizzu, Patrizia; Carracedo, Angel; Bessa, Jose; Heutink, Peter; Sequeiros, Jorge; Sobrido, Maria J.; Coutinho, Paula; Silveira, Isabel (2017)
  • An integrated expression atlas of miRNAs and their promoters in human and mouse
    de Rie, Derek; Abugessaisa, Imad; Alam, Tanvir; Arner, Erik; Arner, Peter; Ashoor, Haitham; Astrom, Gaby; Babina, Magda; Bertin, Nicolas; Burroughs, A. Maxwell; Carlisle, Ailsa J.; Daub, Carsten O.; Detmar, Michael; Deviatiiarov, Ruslan; Fort, Alexandre; Gebhard, Claudia; Goldowitz, Daniel; Guhl, Sven; Ha, Thomas J.; Harshbarger, Jayson; Hasegawa, Akira; Hashimoto, Kosuke; Herlyn, Meenhard; Heutink, Peter; Hitchens, Kelly J.; Hon, Chung Chau; Huang, Edward; Ishizu, Yuri; Kai, Chieko; Kasukawa, Takeya; Klinken, Peter; Lassmann, Timo; Lecellier, Charles-Henri; Lee, Weonju; Lizio, Marina; Makeev, Vsevolod; Mathelier, Anthony; Medvedeva, Yulia A.; Mejhert, Niklas; Mungall, Christopher J.; Noma, Shohei; Ohshima, Mitsuhiro; Okada-Hatakeyama, Mariko; Persson, Helena; Rizzu, Patrizia; Roudnicky, Filip; Saetrom, Pal; Sato, Hiroki; Severin, Jessica; Shin, Jay W.; Swoboda, Rolf K.; Tarui, Hiroshi; Toyoda, Hiroo; Vitting-Seerup, Kristoffer; Winteringham, Louise; Yamaguchi, Yoko; Yasuzawa, Kayoko; Yoneda, Misako; Yumoto, Noriko; Zabierowski, Susan; Zhang, Peter G.; Wells, Christine A.; Summers, Kim M.; Kawaji, Hideya; Sandelin, Albin; Rehli, Michael; Hayashizaki, Yoshihide; Carninci, Piero; Forrest, Alistair R. R.; de Hoon, Michiel J. L. (2017)
  • Antisense Transcription in Loci Associated to Hereditary Neurodegenerative Diseases
    Zucchelli, Silvia; Fedele, Stefania; Vatta, Paolo; Calligaris, Raffaella; Heutink, Peter; Rizzu, Patrizia; Itoh, Masayoshi; Persichetti, Francesca; Santoro, Claudio; Kawaji, Hideya; Lassmann, Timo; Hayashizaki, Yoshihide; Carninci, Piero; Forrest, Alistair R. R.; Gustincich, Stefano (2019)
  • beta(2)-Adrenoreceptor is a regulator of the alpha-synuclein gene driving risk of Parkinson's disease
    Mittal, Shuchi; Bjornevik, Kjetil; Im, Doo Soon; Flierl, Adrian; Dong, Xianjun; Locascio, Joseph J.; Abo, Kristine M.; Long, Elizabeth; Jin, Ming; Xu, Bing; Xiang, Yang K.; Rochet, Jean-Christophe; Engeland, Anders; Rizzu, Patrizia; Heutink, Peter; Bartels, Tim; Selkoe, Dennis J.; Caldarone, Barbara J.; Glicksman, Marcie A.; Khurana, Vikram; Schule, Birgitt; Park, David S.; Riise, Trond; Scherzer, Clemens R. (2017)
  • C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers
    Rizzu, Patrizia; Blauwendraat, Cornelis; Heetveld, Sasja; Lynes, Emily M.; Castillo-Lizardo, Melissa; Dhingra, Ashutosh; Pyz, Elwira; Hobert, Markus; Synofzik, Matthis; Simon-Sanchez, Javier; Francescatto, Margherita; Heutink, Peter (2016)
  • Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation
    Mol, Merel O.; van Rooij, Jeroen G. J.; Brusse, Esther; Verkerk, Annemieke J. M. H.; Melhem, Shamiram; den Dunnen, Wilfred F. A.; Rizzu, Patrizia; Cupidi, Chiara; van Swieten, John C.; Kaat, Laura Donker (2020)
  • Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe
    Blauwendraat, Cornelis; Francescatto, Margherita; Gibbs, J. Raphael; Jansen, Iris E.; Simon-Sanchez, Javier; Hernandez, Dena G.; Dillman, Allissa A.; Singleton, Andrew B.; Cookson, Mark R.; Rizzu, Patrizia; Heutink, Peter (2016)
  • Data Descriptor: FANTOM5 CAGE profiles of human and mouse samples
    Noguchi, Shuhei; Arakawa, Takahiro; Fukuda, Shiro; Furuno, Masaaki; Hasegawa, Akira; Hori, Fumi; Ishikawa-Kato, Sachi; Kaida, Kaoru; Kaiho, Ai; Kanamori-Katayama, Mutsumi; Kawashima, Tsugumi; Kojima, Miki; Kubosaki, Atsutaka; Manabe, Ri-ichiroh; Murata, Mitsuyoshi; Nagao-Sato, Sayaka; Nakazato, Kenichi; Ninomiya, Noriko; Nishiyori-Sueki, Hiromi; Noma, Shohei; Saijyo, Eri; Saka, Akiko; Sakai, Mizuho; Simon, Christophe; Suzuki, Naoko; Tagami, Michihira; Watanabe, Shoko; Yoshida, Shigehiro; Arner, Peter; Axton, Richard A.; Babina, Magda; Baillie, J. Kenneth; Barnett, Timothy C.; Beckhouse, Anthony G.; Blumenthal, Antje; Bodega, Beatrice; Bonetti, Alessandro; Briggs, James; Brombacher, Frank; Carlisle, Ailsa J.; Clevers, Hans C.; Davis, Carrie A.; Detmar, Michael; Dohi, Taeko; Edge, Albert S. B.; Edinger, Matthias; Ehrlund, Anna; Ekwall, Karl; Endoh, Mitsuhiro; Enomoto, Hideki; Eslami, Afsaneh; Fagiolini, Michela; Fairbairn, Lynsey; Farach-Carson, Mary C.; Faulkner, Geoffrey J.; Ferrai, Carmelo; Fisher, Malcolm E.; Forrester, Lesley M.; Fujita, Rie; Furusawa, Jun-ichi; Geijtenbeek, Teunis B.; Gingeras, Thomas; Goldowitz, Daniel; Guhl, Sven; Guler, Reto; Gustincich, Stefano; Ha, Thomas J.; Hamaguchi, Masahide; Hara, Mitsuko; Hasegawa, Yuki; Herlyn, Meenhard; Heutink, Peter; Hitchens, Kelly J.; Hume, David A.; Ikawa, Tomokatsu; Ishizu, Yuri; Kai, Chieko; Kawamoto, Hiroshi; Kawamura, Yuki I.; Kempfle, Judith S.; Kenna, Tony J.; Kere, Juha; Khachigian, Levon M.; Kitamura, Toshio; Klein, Sarah; Klinken, S. Peter; Knox, Alan J.; Kojima, Soichi; Koseki, Haruhiko; Koyasu, Shigeo; Lee, Weonju; Lennartsson, Andreas; Mackay-sim, Alan; Mejhert, Niklas; Mizuno, Yosuke; Morikawa, Hiromasa; Morimoto, Mitsuru; Moro, Kazuyo; Morris, Kelly J.; Motohashi, Hozumi; Mummery, Christine L. (2017)
  • Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome
    Kelmemi, W.; Teeuw, M. E.; Bochdanovits, Z.; Ouburg, S.; Jonker, M. A.; Alkuraya, F.; Hashem, M.; Kayserili, H.; van Haeringen, A.; Sheridan, E.; Masri, A.; Cobben, J. M.; Rizzu, P.; Kostense, P. J.; Dommering, C. J.; Henneman, L.; Bouhamed-Chaabouni, H.; Heutink, P.; ten Kate, L. P.; Cornel, M. C. (2015)
  • Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing
    Jansen, Iris E.; Ye, Hui; Heetveld, Sasja; Lechler, Marie C.; Michels, Helen; Seinstra, Renee I.; Lubbe, Steven J.; Drouet, Valerie; Lesage, Suzanne; Majounie, Elisa; Gibbs, J. Raphael; Nalls, Mike A.; Ryten, Mina; Botia, Juan A.; Vandrovcova, Jana; Simon-Sanchez, Javier; Castillo-Lizardo, Melissa; Rizzu, Patrizia; Blauwendraat, Cornelis; Chouhan, Amit K.; Li, Yarong; Yogi, Puja; Amin, Najaf; van Duijn, Cornelia M.; Morris, Huw R.; Brice, Alexis; Singleton, Andrew B.; David, Della C.; Nollen, Ellen A.; Jain, Shushant; Shulman, Joshua M.; Heutink, Peter (2017)
  • Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease
    Dong, Xianjun; Liao, Zhixiang; Gritsch, David; Hadzhiev, Yavor; Bai, Yunfei; Locascio, Joseph J.; Guennewig, Boris; Liu, Ganqiang; Blauwendraat, Cornelis; Wang, Tao; Adler, Charles H.; Hedreen, John C.; Faull, Richard L. M.; Frosch, Matthew P.; Nelson, Peter T.; Rizzu, Patrizia; Cooper, Antony A.; Heutink, Peter; Beach, Thomas G.; Mattick, John S.; Mueller, Ferenc; Scherzer, Clemens R. (2018)
  • Frontotemporal dementia and its subtypes: a genome-wide association study
    Ferrari, Raffaele; Hernandez, Dena G.; Nalls, Michael A.; Rohrer, Jonathan D.; Ramasamy, Adaikalavan; Kwok, John B. J.; Dobson-Stone, Carol; Brooks, William S.; Schofield, Peter R.; Halliday, Glenda M.; Hodges, John R.; Piguet, Olivier; Bartley, Lauren; Thompson, Elizabeth; Haan, Eric; Hernandez, Isabel; Ruiz, Agustin; Boada, Merce; Borroni, Barbara; Padovani, Alessandro; Cruchaga, Carlos; Cairns, Nigel J.; Benussi, Luisa; Binetti, Giuliano; Ghidoni, Roberta; Forloni, Gianluigi; Galimberti, Daniela; Fenoglio, Chiara; Serpente, Maria; Scarpini, Elio; Clarimon, Jordi; Lleo, Alberto; Blesa, Rafael; Waldo, Maria Landqvist; Nilsson, Karin; Nilsson, Christer; Mackenzie, Ian R. A.; Hsiung, Ging-Yuek R.; Mann, David M. A.; Grafman, Jordan; Morris, Christopher M.; Attems, Johannes; Griffiths, Timothy D.; McKeith, Ian G.; Thomas, Alan J.; Pietrini, P.; Huey, Edward D.; Wassermann, Eric M.; Baborie, Atik; Jaros, Evelyn; Tierney, Michael C.; Pastor, Pau; Razquin, Cristina; Ortega-Cubero, Sara; Alonso, Elena; Perneczky, Robert; Diehl-Schmid, Janine; Alexopoulos, Panagiotis; Kurz, Alexander; Rainero, Innocenzo; Rubino, Elisa; Pinessi, Lorenzo; Rogaeva, Ekaterina; St George-Hyslop, Peter; Rossi, Giacomina; Tagliavini, Fabrizio; Giaccone, Giorgio; Rowe, James B.; Schlachetzki, Johannes C. M.; Uphill, James; Collinge, John; Mead, Simon; Danek, Adrian; Van Deerlin, Vivianna M.; Grossman, Murray; Trojanowski, John Q.; van der Zee, Julie; Deschamps, William; Van Langenhove, Tim; Cruts, Marc; Van Broeckhoven, Christine; Cappa, Stefano F.; Le Ber, Isabelle; Hannequin, Didier; Golfier, Veronique; Vercelletto, Martine; Brice, Alexis; Nacmias, Benedetta; Sorbi, Sandra; Bagnoli, Silvia; Piaceri, Irene; Nielsen, Jorgen E.; Hjermind, Lena E.; Riemenschneider, Matthias; Mayhaus, Manuel; Ibach, Bernd; Gasparoni, Gilles; Pichler, Sabrina; Gu, Wei; Rossor, Martin N.; Fox, Nick C. (2014)
  • Functional annotation of human long noncoding RNAs via molecular phenotyping
    Ramilowski, Jordan A.; Yip, Chi Wai; Agrawal, Saumya; Chang, Jen-Chien; Ciani, Yari; Kulakovskiy, Ivan V.; Mendez, Mickael; Ooi, Jasmine Li Ching; Ouyang, John F.; Parkinson, Nick; Petri, Andreas; Roos, Leonie; Severin, Jessica; Yasuzawa, Kayoko; Abugessaisa, Imad; Akalin, Altuna; Antonov, Ivan V.; Arner, Erik; Bonetti, Alessandro; Bono, Hidemasa; Borsari, Beatrice; Brombacher, Frank; Cameron, Chris J. F.; Cannistraci, Carlo Vittorio; Cardenas, Ryan; Cardon, Melissa; Chang, Howard; Dostie, Josee; Ducoli, Luca; Favorov, Alexander; Fort, Alexandre; Garrido, Diego; Gil, Noa; Gimenez, Juliette; Guler, Reto; Handoko, Lusy; Harshbarger, Jayson; Hasegawa, Akira; Hasegawa, Yuki; Hashimoto, Kosuke; Hayatsu, Norihito; Heutink, Peter; Hirose, Tetsuro; Imada, Eddie L.; Itoh, Masayoshi; Kaczkowski, Bogumil; Kanhere, Aditi; Kawabata, Emily; Kawaji, Hideya; Kawashima, Tsugumi; Kelly, S. Thomas; Kojima, Miki; Kondo, Naoto; Koseki, Haruhiko; Kouno, Tsukasa; Kratz, Anton; Kurowska-Stolarska, Mariola; Kwon, Andrew Tae Jun; Leek, Jeffrey; Lennartsson, Andreas; Lizio, Marina; Lopez-Redondo, Fernando; Luginbuhl, Joachim; Maeda, Shiori; Makeev, Vsevolod J.; Marchionni, Luigi; Medvedeva, Yulia A.; Minoda, Aki; Mueller, Ferenc; Munoz-Aguirre, Manuel; Murata, Mitsuyoshi; Nishiyori, Hiromi; Nitta, Kazuhiro R.; Noguchi, Shuhei; Noro, Yukihiko; Nurtdinov, Ramil; Okazaki, Yasushi; Orlando, Valerio; Paquette, Denis; Parr, Callum J. C.; Rackham, Owen J. L.; Rizzu, Patrizia; Martinez, Diego Fernando Sanchez; Sandelin, Albin; Sanjana, Pillay; Semple, Colin A. M.; Shibayama, Youtaro; Sivaraman, Divya M.; Suzuki, Takahiro; Szumowski, Suzannah C.; Tagami, Michihira; Taylor, Martin S.; Terao, Chikashi; Thodberg, Malte; Thongjuea, Supat; Tripathi, Vidisha; Ulitsky, Igor; Verardo, Roberto; Vorontsov, Ilya E.; Yamamoto, Chinatsu; Young, Robert S. (2020)
  • Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia
    Bonham, Luke W.; Steele, Natasha Z. R.; Karch, Celeste M.; Broce, Iris; Geier, Ethan G.; Wen, Natalie L.; Momeni, Parastoo; Hardy, John; Miller, Zachary A.; Gorno-Tempini, Maria Luisa; Hess, Christopher P.; Lewis, Patrick; Miller, Bruce L.; Seeley, William W.; Manzoni, Claudia; Desikan, Rahul S.; Baranzini, Sergio E.; Ferraris, Raffaele; Yokoyama, Jennifer S.; Hernandez, D. G.; Nalls, M. A.; Rohrer, J. D.; Ramasamy, A.; Kwok, J. B. J.; Dobson-Stone, C.; Schofield, P. R.; Halliday, G. M.; Hodges, J. R.; Piguet, O.; Bartley, L.; Thompson, E.; Haan, E.; Hernandez, I; Ruiz, A.; Boada, M.; Borroni, B.; Padovani, A.; Cruchaga, C.; Cairns, N. J.; Benussi, L.; Binetti, G.; Ghidoni, R.; Forloni, G.; Albani, D.; Galimberti, D.; Fenoglio, C.; Serpente, M.; Scarpini, E.; Clarimon, J.; Lleo, A.; Blesa, R.; Waldo, M. Landqvist; Nilsson, K.; Nilsson, C.; Mackenzie, I. R. A.; Hsiung, G-Y R.; Mann, D. M. A.; Grafman, J.; Morris, C. M.; Attems, J.; Griffiths, T. D.; McKeith, I. G.; Thomas, A. J.; Pietrini, P.; Huey, E. D.; Wassermann, E. M.; Baborie, A.; Jaros, E.; Tierney, M. C.; Pastor, P.; Razquin, C.; Ortega-Cubero, S.; Alonso, E.; Perneczky, R.; Diehl-Schmid, J.; Alexopoulos, P.; Kurz, A.; Rainero, I; Rubino, E.; Pinessi, L.; Rogaeva, E.; St George-Hyslop, P.; Rossi, G.; Tagliavini, F.; Giaccone, G.; Rowe, J. B.; Schlachetzki, J. C. M.; Uphill, J.; Collinge, J.; Mead, S.; Danek, A.; Van Deerlin, V. M.; Grossman, M.; Trojanowski, J. Q.; van der Zee, J.; Cruts, M.; Van Broeckhoven, C.; Cappa, S. F.; Leber, I; Hannequin, D.; Golfier, V (2019)
  • Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia
    Swarup, Vivek; Hinz, Flora I.; Rexach, Jessica E.; Noguchi, Ken-ichi; Toyoshiba, Hiroyoshi; Oda, Akira; Hirai, Keisuke; Sarkar, Arjun; Seyfried, Nicholas T.; Cheng, Chialin; Haggarty, Stephen J.; Ferrari, Raffaele; Rohrer, Jonathan D.; Ramasamy, Adaikalavan; Hardy, John; Hernandez, Dena G.; Nalls, Michael A.; Singleton, Andrew B.; Kwok, John B. J.; Dobson-Stone, Carol; Brooks, William S.; Schofield, Peter R.; Halliday, Glenda M.; Hodges, John R.; Piguet, Olivier; Bartley, Lauren; Thompson, Elizabeth; Haan, Eric; Hernandez, Isabel; Ruiz, Agustin; Boada, Merce; Borroni, Barbara; Padovani, Alessandro; Cairns, Nigel J.; Cruchaga, Carlos; Binetti, Giuliano; Ghidoni, Roberta; Benussi, Luisa; Forloni, Gianluigi; Albani, Diego; Galimberti, Daniela; Fenoglio, Chiara; Serpente, Maria; Scarpini, Elio; Clarimon, Jordi; Lleo, Alberto; Blesa, Rafael; Waldo, Maria Landqvist; Nilsson, Karin; Nilsson, Christer; Mackenzie, Ian R. A.; Hsiung, Ging-Yuek R.; Mann, David M. A.; Grafman, Jordan; Morris, Christopher M.; Attems, Johannes; Griffiths, Timothy D.; McKeith, Ian G.; Thomas, Alan J.; Jaros, Evelyn; Pietrini, Pietro; Huey, Edward D.; Wassermann, Eric M.; Tierney, Michael C.; Baborie, Atik; Pastor, Pau; Ortega-Cubero, Sara; Razquin, Cristina; Alonso, Elena; Perneczky, Robert; Diehl-Schmid, Janine; Alexopoulos, Panagiotis; Kurz, Alexander; Rainero, Innocenzo; Rubino, Elisa; Pinessi, Lorenzo; Rogaeva, Ekaterina; St George-Hyslop, Peter; Rossi, Giacomina; Tagliavini, Fabrizio; Giaccone, Giorgio; Rowe, James B.; Schlachetzki, Johannes C. M.; Uphill, James; Collinge, John; Mead, Simon; Danek, Adrian; Van Deerlin, Vivianna M.; Grossman, Murray; Trojanowski, John Q.; Pickering-Brown, Stuart; Momeni, Parastoo; van der Zee, Julie; Cruts, Marc; Van Broeckhoven, Christine; Cappa, Stefano F.; Leber, Isabelle; Brice, Alexis; Hannequin, Didier; Golfier, Veronique; Vercelletto, Martine (2019)
  • Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset
    Billingsley, Kimberley J.; Barbosa, Ines A.; Bandres-Ciga, Sara; Quinn, John P.; Bubb, Vivien J.; Deshpande, Charu; Botia, Juan A.; Reynolds, Regina H.; Zhang, David; Simpson, Michael A.; Blauwendraat, Cornelis; Gan-Or, Ziv; Gibbs, J. Raphael; Nalls, Mike A.; Singleton, Andrew; Ryten, Mina; Koks, Sulev; Noyce, A.; Tucci, A.; Middlehurst, B.; Kia, D.; Tan, M.; Houlden, H.; Morris, H. R.; Plun-Favreau, H.; Holmans, P.; Hardy, J.; Trabzuni, D.; Bras, J.; Mok, K.; Kinghorn, K.; Wood, N.; Lewis, P.; Guerreiro, R.; Loverin, R.; R'Bibo, L.; Rizig, M.; Escott-Price, V; Chelban, V; Foltynie, T.; Williams, N.; Brice, A.; Danjou, F.; Lesage, S.; Martinez, M.; Giri, A.; Schulte, C.; Brockmann, K.; Simon-Sanchez, J.; Heutink, P.; Rizzu, P.; Sharma, M.; Gasser, T.; Nicolas, A.; Cookson, M.; Faghri, F.; Hernandez, D.; Shulman, J.; Robak, L.; Lubbe, S.; Finkbeiner, S.; Mencacci, N.; Lungu, C.; Scholz, S.; Reed, X.; Leonard, H.; Rouleau, G.; Krohan, L.; van Hilten, J.; Marinus, J.; Adarmes-Gomez, A.; Aguilar, M.; Alvarez, I; Alvarez, V; Javier Barrero, F.; Bergareche Yarza, J.; Bernal-Bernal, I; Blazquez, M.; Bonilla-Toribio Bernal, M.; Boungiorne, M.; Buiza-Rueda, Dolores; Camara, A.; Carcel, M.; Carrillo, F.; Carrion-Claro, M.; Cerdan, D.; Clarimon, J.; Compta, Y.; Diez-Fairen, M.; Dols-Icardo, O.; Duarte, J.; Duran, R., I; Escamilla-Sevilla, F.; Ezquerra, M.; Fernandez, M.; Fernandez-Santiago, R.; Garcia, C.; Garcia-Ruiz, P.; Gomez-Garre, P.; Gomez Heredia, M.; Gonzalez-Aramburu, I (2019)
  • Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients
    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 (2016)
  • Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants
    Blauwendraat, Cornelis; Wilke, Carlo; Jansen, Iris E.; Schulte, Claudia; Simon-Sanchez, Javier; Metzger, Florian G.; Bender, Benjamin; Gasser, Thomas; Maetzler, Walter; Rizzu, Patrizia; Heutink, Peter; Synofzik, Matthis (2016)
  • SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease
    Fernandez-Santiago, Ruben; Martin-Flores, Nuria; Antonelli, Francesca; Cerquera, Catalina; Moreno, Veronica; Bandres-Ciga, Sara; Manduchi, Elisabetta; Tolosa, Eduard; Singleton, Andrew B.; Moore, Jason H.; Noyce, Alastair J.; Kaiyrzhanov, Rauan; Middlehurst, Ben; Kia, Demis A.; Tan, Manuela; Houlden, Henry; Morris, Huw R.; Plun-Favreau, Helene; Holmans, Peter; Hardy, John; Trabzuni, Daniah; Bras, Jose; Quinn, John; Mok, Kin Y.; Kinghorn, Kerri J.; Billingsley, Kimberley; Wood, Nicholas W.; Lewis, Patrick; Schreglmann, Sebastian; Guerreiro, Rita; Lovering, Ruth; R'Bibo, Lea; Manzoni, Claudia; Rizig, Mie; Ryten, Mina; Guelfi, Sebastian; Escott-Price, Valentina; Chelban, Viorica; Foltynie, Thomas; Williams, Nigel; Morrison, Karen E.; Clarke, Carl; Brice, Alexis; Danjou, Fabrice; Lesage, Suzanne; Corvol, Jean-Christophe; Martinez, Maria; Schulte, Claudia; Brockmann, Kathrin; Simon-Sanchez, Javier; Heutink, Peter; Rizzu, Patrizia; Sharma, Manu; Gasser, Thomas; Nicolas, Aude; Cookson, Mark R.; Bandres-Ciga, Sara; Blauwendraat, Cornelis; Craig, David W.; Faghri, Faraz; Gibbs, J. Raphael; Hernandez, Dena G.; Van Keuren-Jensen, Kendall; Shulman, Joshua M.; Iwaki, Hirotaka; Leonard, Hampton L.; Nalls, Mike A.; Robak, Laurie; Lubbe, Steven; Finkbeiner, Steven; Mencacci, Niccolo E.; Lungu, Codrin; Singleton, Andrew B.; Scholz, Sonja W.; Reed, Xylena; Alcalay, Roy N.; Gan-Or, Ziv; Rouleau, Guy A.; Krohn, Lynne; van Hilten, Jacobus J.; Marinus, Johan; Adarmes-Gomez, Astrid D.; Aguilar, Iquel; Alvarez, Ignacio; Alvarez, Victoria; Javier Barrero, Francisco; Bergareche Yarza, Jesus Alberto; Bernal-Bernal, Inmaculada; Blazquez, Marta; Bonilla-Toribio, Marta; Botia, Juan A.; Teresa Boungiorno, Maria; Buiza-Rueda, Dolores; Camara, Ana; Carrillo, Fatima; Carrion-Claro, Mario; Cerdan, Debora; Clarimon, Jordi; Compta, Yaroslau; de la Casa, Beatriz; Diez-Fairen, Monica (2019)
  • The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects
    Blauwendraat, Cornelis; Wilke, Carlo; Simon-Sanchez, Javier; Jansen, Iris E.; Reifschneider, Anika; Capell, Anja; Haass, Christian; Castillo-Lizardo, Melissa; Biskup, Saskia; Maetzler, Walter; Rizzu, Patrizia; Heutink, Peter; Synofzik, Matthis (2018)