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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 6
2023
Seyedtaghia, Mohammad Reza; Soudyab, Mohammad; Shariati, Mohammad; Esfehani, Reza Jafarzadeh; Vafadar, Shabnam; Shalaei, Neda; Nouri, Vahid; Zech, Michael; Winkelmann, Juliane; Shoeibi, Ali und Sadr-Nabavi, Ariane
(2023):
Copy number analysis from whole-exome sequencing data revealed a novel homozygous deletion in PARK7 leads to severe early-onset Parkinson's disease.
In: Heliyon, Bd. 9, Nr. 4, e15393
[PDF, 3MB]
2022
Garavaglia, Barbara; Vallian, Sadeq; Romito, Luigi M.; Straccia, Giulia; Capecci, Marianna; Invernizzi, Federica; Andrenelli, Elisa; Kazemi, Arezu; Boesch, Sylvia; Kopajtich, Robert; Olfati, Nahid; Shariati, Mohammad; Shoeibi, Ali; Sadr-Nabavi, Ariane; Prokisch, Holger; Winkelmann, Juliane und Zech, Michael
(2022):
AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.
In: Parkinsonism & Related Disorders, Bd. 97: S. 52-56
Soudyab, Mohammad; Shariati, Mohammad; Esfehani, Reza Jafarzadeh; Shalaei, Neda; Vafadar, Shabnam; Nouri, Vahid; Zech, Michael; Winkelmann, Juliane; Shoeibi, Ali und Sadr-Nabavi, Ariane
(2022):
Whole-Exome Sequencing Study of Consanguineous Parkinson's Disease Families and Related Phenotypes: Report of Twelve Novel Variants.
In: Journal of Molecular Neuroscience, Bd. 72, Nr. 12: S. 2486-2496
2021
Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Wagner, Matias; Sadr-Nabavi, Ariane; Distelmaier, Felix; Krenn, Martin; Serranova, Tereza; Rektorova, Irena; Havrankova, Petra; Mosejova, Alexandra; Prihodova, Iva; Sarlakova, Jana; Kulcsarova, Kristina; Ulmanova, Olga; Bechyne, Karel; Ostrozovicova, Miriam; Han, Vladimir; Ventosa, Joaquim Ribeiro; Brunet, Theresa; Berutti, Riccardo; Shariati, Mohammad; Shoeibi, Ali; Schneider, Susanne A.; Kuster, Alice; Baumann, Matthias; Weise, David; Wilbert, Friederike; Janzarik, Wibke G.; Eckenweiler, Matthias; Mall, Volker; Haslinger, Bernhard; Berweck, Steffen; Winkelmann, Juliane und Oexle, Konrad
(2021):
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.
In: Movement Disorders, Bd. 36, Nr. 8: S. 1959-1964
[PDF, 488kB]
Zech, Michael; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Wagner, Matias; Dincer, Yasemin; Sadr-Nabavi, Ariane; Serranova, Teresa; Rektorova, Irena; Havrankova, Petra; Ganai, Shahzaman; Mosejova, Alexandra; Prihodova, Iva; Sarlakova, Jana; Kulcsarova, Kristina; Ulmanova, Olga; Bechyne, Karel; Ostrozovicova, Miriam; Han, Vladimir; Ventosa, Joaquim Ribeiro; Shariati, Mohammad; Shoeibi, Ali; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Berutti, Riccardo; Strom, Tim M.; Ceballos-Baumann, Andres; Mall, Volker; Haslinger, Bernhard; Jech, Robert und Winkelmann, Juliane
(2021):
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
In: Parkinsonism & Related Disorders, Bd. 84: S. 129-134
2019
Marini, Sandro; Crawford, Katherine; Morotti, Andrea; Lee, Myung J.; Pezzini, Alessandro; Moomaw, Charles J.; Flaherty, Matthew L.; Montaner, Joan; Roquer, Jaume; Jimenez-Conde, Jordi; Giralt-Steinhauer, Eva; Elosua, Roberto; Cuadrado-Godia, Elisa; Soriano-Tarraga, Carolina; Slowik, Agnieszka; Jagiella, Jeremiasz M.; Pera, Joanna; Urbanik, Andrzej; Pichler, Alexander; Hansen, Bjorn M.; McCauley, Jacob L.; Tirschwell, David L.; Selim, Magdy; Brown, Devin L.; Silliman, Scott L.; Worrall, Bradford B.; Meschia, James F.; Kidwell, Chelsea S.; Testai, Fernando D.; Kittner, Steven J.; Schmidt, Helena; Enzinger, Christian; Deary, Lan J.; Rannikmae, Kristiina; Samarasekera, Neshika; Salman, Rustam Al-Shahi; Sudlow, Catherine L.; Klijn, Catharina J. M.; van Nieuwenhuizen, Koen M.; Fernandez-Cadenas, Israel; Delgado, Pilar; Nonving, Bo; Lindgren, Ame; Goldstein, Joshua N.; Viswanathan, Anand; Greenberg, Steven M.; Falcone, Guido J.; Biffi, Alessandro; Langefeld, Carl D.; Woo, Daniel; Rosand, Jonathan; Anderson, Christopher D.; Smoller, Sylvia; Sorkin, John; Wang, Xingwu; Selim, Magdy; Pikula, Aleksandra; Wolf, Philip; Debette, Stephanie; Seshadri, Sudha; de Bakker, Paul; Chasman, Daniel; Rexrode, Kathryn; Chen, Ida; Rotter, Jerome; Luke, May; Sale, Michelle; Lee, Tsong-Hai; Chang, Ku-Chou; Elkind, Mitchell; Goldstein, Larry; James, Michael (Luke); Breteler, Monique; O'Donnell, Chris; Leys, Didier; Carty, Cara; Kidwell, Chelsea; Olesen, Jes; Sharma, Pankaj; Rich, Stephen; Tatlisumak, Turgot; Happola, Olli; Bijlenga, Philippe; Soriano, Carolina; Giralt, Eva; Roquer, Jaume; Jimenez-Conde, Jordi; Cotlarcius, Loana; Hardy, John; Korostynski, Michal; Boncoraglio, Giorgio; Ballabio, Elena; Parati, Eugenio; Mateusz, Adamski; Urbanik, Andrzej; Dziedzic, Tomasz; Jagiella, Jeremiasz; Gasowski, Jerzy; Wnuk, Marcin; Olszanecki, Rafaf; Pera, Joanna; Slowik, Agnieszka; Juchniewicz, Karol Jozef; Levi, Christopher; Nyquist, Paul; Cendes, Iscia; Cabral, Norberto; Franca, Paulo; Goncalves, Anderson; Keller, Lina; Crisby, Milita; Kostulas, Konstantinos; Lennnnens, Robin; Ahmadi, Kourosh; Opherk, Christian; Duering, Marco; Dichgans, Martin; Malik, Rainer; Gonik, Mariya; Staals, Julie; Melander, Olle; Burri, Philippe; Sadr-Nabavi, Ariane; Romero, Javier; Biffi, Alessandro; Anderson, Chris; Falcone, Guido; Brouwers, Bart; Rosand, Jonathan; Rost, Natalia; Du, Rose; Kourkoulis, Christina; Battey, Thomas; Lubitz, Steven; Müller-Myhsok, Bertram; Meschia, James; Brott, Thomas; Pare, Guillaume; Pichler, Alexander; Enzinger, Christian; Schmidt, Helena; Schmidt, Reinhold; Seiler, Stephan; Blanton, Susan; Yamada, Yoshiji; Bersano, Anna; Rundek, Tatiana; Sacco, Ralph; Chan, Yu-Feng Yvonne; Gschwendtner, Andreas; Deng, Zhen; Barr, Taura; Gwinn, Katrina; Corriveau, Roderick; Singleton, Andrew; Waddy, Salina; Launer, Lenore; Chen, Christopher; Le, Kim En; Lee, Wei Ling; Tan, Eng King; Olugbodi, Akintomi; Rothwell, Peter; Schilling, Sabrina; Mok, Vincent; Lebedeva, Elena; Jem, Christina; Jood, Katarina; Olsson, Sandra; Kim, Helen; Lee, Chaeyoung; Kilarski, Laura; Markus, Hugh; Peycke, Jennifer; Bevan, Steve; Sheu, Wayne; Chiou, Hung Yi; Chern, Joseph; Giraldo, Elias; Taqi, Muhammad; Jain, Vivek; Lam, Olivia; Howard, George; Woo, Daniel; Kittner, Steven; Mitchell, Braxton; Cole, John; O'Connell, Jeff; Milewicz, Dianna; Illoh, Kachikwu; Worrall, Bradford; Stine, Colin; Karaszewski, Bartosz; Werring, David; Sofat, Reecha; Smalley, June; Lindgren, Arne; Hansen, Bjorn; Norrving, Bo; Smith, Gustav; Martin, Juan Jose; Thijs, Vincent; Klijn, Karin; van't Hof, Femke; Algra, Ale; Macleod, Mary; Perry, Rodney; Arnett, Donna; Pezzini, Alessandro; Padovani, Alessandro; Cramer, Steve; Fisher, Marl; Saleheen, Danish; Broderick, Joseph; Kissela, Brett; Doney, Alex; Sudlow, Cathie; Rannikmae, Kristiina; Silliman, Scott; McDonough, Caitrin; Walters, Matthew; Pedersen, Annie; Nakagawa, Kazuma; Chang, Christy; Dobbins, Mark; McArdle, Patrick; Chang, Yu-Ching; Brown, Robert; Brown, Devin; Holliday, Elizabeth; Kalaria, Raj; Maguire, Jane; Hunter, John; Attia, John; Farrall, Martin; Giese, Anne-Katrin; Fomage, Myriam; Majersik, Jennifer; Cushman, Maly; Keene, Keith; Bennett, Siiri; Tirschwell, David; Psaty, Bruce; Reiner, Alex; Longstreth, Will; Spence, David; Montaner, Joan; Fernandez-Cadenas, Israel; Langefeld, Carl; Bushnell, Cheryl; Heitsch, Laura; Lee, Jin-Moo und Sheth, Kevin
(2019):
Association of Apolipoprotein E With Intracerebral Hemorrhage Risk by Race/Ethnicity A Meta-analysis.
In: Jama Neurology, Bd. 76, Nr. 4: S. 480-491