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2. Genetic Risk Factors in Isolated Dystonia Escape Genome‐Wide Association Studies.

Author

Laabs, Björn‐Hergen, Lohmann, Katja, Vollstedt, Eva‐Juliane, Reinberger, Tobias, Nuxoll, Lisa‐Marie, Kilic‐Berkmen, Gamze, Perlmutter, Joel S., Loens, Sebastian, Cruchaga, Carlos, Franke, Andre, Dobricic, Valerija, Hinrichs, Frauke, Grözinger, Anne, Altenmüller, Eckart, Bellows, Steven, Boesch, Sylvia, Bressman, Susan B., Duque, Kevin R., Espay, Alberto J., and Ferbert, Andreas

Abstract

Background: Despite considerable heritability, previous smaller genome‐wide association studies (GWASs) have not identified any robust genetic risk factors for isolated dystonia. Objective: The objective of this study was to perform a large‐scale GWAS in a well‐characterized, multicenter sample of >6000 individuals to identify genetic risk factors for isolated dystonia. Methods: Array‐based GWASs were performed on autosomes for 4303 dystonia participants and 2362 healthy control subjects of European ancestry with subgroup analysis based on age at onset, affected body regions, and a newly developed clinical score. Another 736 individuals were used for validation. Results: This GWAS identified no common genome‐wide significant loci that could be replicated despite sufficient power to detect meaningful effects. Power analyses imply that the effects of individual variants are likely very small. Conclusions: Moderate single‐nucleotide polymorphism–based heritability indicates that common variants do not contribute to isolated dystonia in this cohort. Sequence‐based GWASs (eg, by whole‐genome sequencing) might help to better understand the genetic basis. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes

Author

Federal Ministry of Education and Research (Germany), German Research Foundation, Jesús Maestre, Silvia [0000-0002-1874-4628], Mir, Pablo [0000-0003-1656-302X], Thomsen, Mirja, Marth, Katrin, Loens, Sebastian, Everding, Judith, Junker, Johanna, Borngräber, Friederike, Ott, Fabian, Jesús Maestre, Silvia, Gelderblom, Mathias, Odorfer, Thorsten, Kuhlenbäumer, Gregor, Kim, Han-Joon, Schaeffer, Eva, Becktepe, Jos, Kasten, Meike, Brüggemann, Norbert, Pfister, Robert, Kollewe, Katja, Krauss, Joachim K., Lohmann, Ebba, Hinrichs, Frauke, Berg, Daniela, Jeon, Beomseok, Busch, Hauke, Altenmüller, Eckart, Mir, Pablo, Kamm, Christoph, Volkmann, Jens, Zittel, Simone, Ferbert, Andreas, Zeuner, Kirsten E., Rolfs, Arndt, Bauer, Peter, Kühn, Andrea A., Bäumer, Tobias, Klein, Christine, Lohmann, Katja, Federal Ministry of Education and Research (Germany), German Research Foundation, Jesús Maestre, Silvia [0000-0002-1874-4628], Mir, Pablo [0000-0003-1656-302X], Thomsen, Mirja, Marth, Katrin, Loens, Sebastian, Everding, Judith, Junker, Johanna, Borngräber, Friederike, Ott, Fabian, Jesús Maestre, Silvia, Gelderblom, Mathias, Odorfer, Thorsten, Kuhlenbäumer, Gregor, Kim, Han-Joon, Schaeffer, Eva, Becktepe, Jos, Kasten, Meike, Brüggemann, Norbert, Pfister, Robert, Kollewe, Katja, Krauss, Joachim K., Lohmann, Ebba, Hinrichs, Frauke, Berg, Daniela, Jeon, Beomseok, Busch, Hauke, Altenmüller, Eckart, Mir, Pablo, Kamm, Christoph, Volkmann, Jens, Zittel, Simone, Ferbert, Andreas, Zeuner, Kirsten E., Rolfs, Arndt, Bauer, Peter, Kühn, Andrea A., Bäumer, Tobias, Klein, Christine, and Lohmann, Katja

Abstract

[Background] Pathogenic variants in several genes have been linked to genetic forms of isolated or combined dystonia. The phenotypic and genetic spectrum and the frequency of pathogenic variants in these genes have not yet been fully elucidated, neither in patients with dystonia nor with other, sometimes co-occurring movement disorders such as Parkinson's disease (PD)., [Objectives] To screen >2000 patients with dystonia or PD for rare variants in known dystonia-causing genes., [Methods] We screened 1207 dystonia patients from Germany (DysTract consortium), Spain, and South Korea, and 1036 PD patients from Germany for pathogenic variants using a next-generation sequencing gene panel. The impact on DNA methylation of KMT2B variants was evaluated by analyzing the gene's characteristic episignature., [Results] We identified 171 carriers (109 with dystonia [9.0%]; 62 with PD [6.0%]) of 131 rare variants (minor allele frequency <0.005). A total of 52 patients (48 dystonia [4.0%]; four PD [0.4%, all with GCH1 variants]) carried 33 different (likely) pathogenic variants, of which 17 were not previously reported. Pathogenic biallelic variants in PRKRA were not found. Episignature analysis of 48 KMT2B variants revealed that only two of these should be considered (likely) pathogenic., [Conclusion] This study confirms pathogenic variants in GCH1, GNAL, KMT2B, SGCE, THAP1, and TOR1A as relevant causes in dystonia and expands the mutational spectrum. Of note, likely pathogenic variants only in GCH1 were also found among PD patients. For DYT-KMT2B, the recently described episignature served as a reliable readout to determine the functional effect of newly identified variants.

Published
2024

9. High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors

Author

Spiegler, Stefanie, Najm, Juliane, Liu, Jian, Gkalympoudis, Stephanie, Schröder, Winnie, Borck, Guntram, Brockmann, Knut, Elbracht, Miriam, Fauth, Christine, Ferbert, Andreas, Freudenberg, Leonie, Grasshoff, Ute, Hellenbroich, Yorck, Henn, Wolfram, Hoffjan, Sabine, Hüning, Irina, Korenke, G Christoph, Kroisel, Peter M, Kunstmann, Erdmute, Mair, Martina, Munk-Schulenburg, Susanne, Nikoubashman, Omid, Pauli, Silke, Rudnik-Schöneborn, Sabine, Sudholt, Irene, Sure, Ulrich, Tinschert, Sigrid, Wiednig, Michaela, Zoll, Barbara, Ginsberg, Mark H, and Felbor, Ute

Subjects
Stroke, Genetic Testing, Neurosciences, Rare Diseases, Brain Disorders, Clinical Research, Genetics, 2.1 Biological and endogenous factors, Aetiology, Age at disease onset, CCM1, CCM2, CCM3, cerebral cavernous malformation, HEG1, mutation detection rate, predictive testing, Medicinal and Biomolecular Chemistry, Clinical Sciences
Abstract

Cerebral cavernous malformations (CCM) are prevalent vascular malformations occurring in familial autosomal dominantly inherited or isolated forms. Once CCM are diagnosed by magnetic resonance imaging, the indication for genetic testing requires either a positive family history of cavernous lesions or clinical symptoms such as chronic headaches, epilepsy, neurological deficits, and hemorrhagic stroke or the occurrence of multiple lesions in an isolated case. Following these inclusion criteria, the mutation detection rates in a consecutive series of 105 probands were 87% for familial and 57% for isolated cases. Thirty-one novel mutations were identified with a slight shift towards proportionally more CCM3 mutations carriers than previously published (CCM1: 60%, CCM2: 18%, CCM3: 22%). In-frame deletions and exonic missense variants requiring functional analyses to establish their pathogenicity were rare: An in-frame deletion within the C-terminal FERM domain of CCM1 resulted in decreased protein expression and impaired binding to the transmembrane protein heart of glass (HEG1). Notably, 20% of index cases carrying a CCM mutation were below age 10 and 33% below age 18 when referred for genetic testing. Since fulminant disease courses during the first years of life were observed in CCM1 and CCM3 mutation carriers, predictive testing of minor siblings became an issue.

Published
2014

13. Myelin protein zero mutation‐related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort

Author

Bremer, Juliane, primary, Meinhardt, Axel, additional, Katona, Istvan, additional, Senderek, Jan, additional, Kämmerer‐Gassler, Elke K., additional, Roos, Andreas, additional, Ferbert, Andreas, additional, Schröder, J. Michael, additional, Nikolin, Stefan, additional, Nolte, Kay, additional, Sellhaus, Bernd, additional, Popzhelyazkova, Klimentina, additional, Tacke, Frank, additional, Schara‐Schmidt, Ulrike, additional, Neuen‐Jacob, Eva, additional, de Groote, Chantal Ceuterick, additional, de Jonghe, Peter, additional, Timmerman, Vincent, additional, Baets, Jonathan, additional, and Weis, Joachim, additional

Published
2023
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14. Myelin protein zero mutation‐related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.

Author

Bremer, Juliane, Meinhardt, Axel, Katona, Istvan, Senderek, Jan, Kämmerer‐Gassler, Elke K., Roos, Andreas, Ferbert, Andreas, Schröder, J. Michael, Nikolin, Stefan, Nolte, Kay, Sellhaus, Bernd, Popzhelyazkova, Klimentina, Tacke, Frank, Schara‐Schmidt, Ulrike, Neuen‐Jacob, Eva, de Groote, Chantal Ceuterick, de Jonghe, Peter, Timmerman, Vincent, Baets, Jonathan, and Weis, Joachim

Subjects
MYELIN proteins, SPINAL nerve roots, PERIPHERAL nervous system, SCHWANN cells, NERVES, CELL nuclei, NERVOUS system regeneration
Abstract

Myelin protein zero (MPZ/P0) is a major structural protein of peripheral nerve myelin. Disease‐associated variants in the MPZ gene cause a wide phenotypic spectrum of inherited peripheral neuropathies. Previous nerve biopsy studies showed evidence for subtype‐specific morphological features. Here, we aimed at enhancing the understanding of these subtype‐specific features and pathophysiological aspects of MPZ neuropathies. We examined archival material from two Central European centers and systematically determined genetic, clinical, and neuropathological features of 21 patients with MPZ mutations compared to 16 controls. Cases were grouped based on nerve conduction data into congenital hypomyelinating neuropathy (CHN; n = 2), demyelinating Charcot–Marie‐Tooth (CMT type 1; n = 11), intermediate (CMTi; n = 3), and axonal CMT (type 2; n = 5). Six cases had combined muscle and nerve biopsies and one underwent autopsy. We detected four MPZ gene variants not previously described in patients with neuropathy. Light and electron microscopy of nerve biopsies confirmed fewer myelinated fibers, more onion bulbs and reduced regeneration in demyelinating CMT1 compared to CMT2/CMTi. In addition, we observed significantly more denervated Schwann cells, more collagen pockets, fewer unmyelinated axons per Schwann cell unit and a higher density of Schwann cell nuclei in CMT1 compared to CMT2/CMTi. CHN was characterized by basal lamina onion bulb formation, a further increase in Schwann cell density and hypomyelination. Most late onset axonal neuropathy patients showed microangiopathy. In the autopsy case, we observed prominent neuromatous hyperinnervation of the spinal meninges. In four of the six muscle biopsies, we found marked structural mitochondrial abnormalities. These results show that MPZ alterations not only affect myelinated nerve fibers, leading to either primarily demyelinating or axonal changes, but also affect non‐myelinated nerve fibers. The autopsy case offers insight into spinal nerve root pathology in MPZ neuropathy. Finally, our data suggest a peculiar association of MPZ mutations with mitochondrial alterations in muscle. [ABSTRACT FROM AUTHOR]

Published
2024
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20. Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies

Author

Dohrn, Maike F., Glöckle, Nicola, Mulahasanovic, Lejla, Heller, Corina, Mohr, Julia, Bauer, Christine, Riesch, Erik, Becker, Andrea, Battke, Florian, Hörtnagel, Konstanze, Hornemann, Thorsten, Suriyanarayanan, Saranya, Blankenburg, Markus, Schulz, Jörg B., Claeys, Kristl G., Gess, Burkhard, Katona, Istvan, Ferbert, Andreas, Vittore, Debora, Grimm, Alexander, Wolking, Stefan, Schöls, Ludger, Lerche, Holger, Korenke, G. Christoph, Fischer, Dirk, Schrank, Bertold, Kotzaeridou, Urania, Kurlemann, Gerhard, Dräger, Bianca, Schirmacher, Anja, Young, Peter, Schlotter‐Weigel, Beate, and Biskup, Saskia

Published
2017
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21. Risk for Major Bleeding in Patients Receiving Ticagrelor Compared With Aspirin After Transient Ischemic Attack or Acute Ischemic Stroke in the SOCRATES Study (Acute Stroke or Transient Ischemic Attack Treated With Aspirin or Ticagrelor and Patient Outcomes)

Author

Easton, J. Donald, Aunes, Maria, Albers, Gregory W., Amarenco, Pierre, Bokelund-Singh, Sara, Denison, Hans, Evans, Scott R., Held, Peter, Jahreskog, Marianne, Jonasson, Jenny, Minematsu, Kazuo, Molina, Carlos A., Wang, Yongjun, Wong, K.S. Lawrence, Johnston, S. Claiborne, Ameriso, Sebastiá F., Donnan, Geoffrey, Lemmens, Robin, Massaro, Ayrton, Titianova, Ekaterina, Hill, Michael D., Lavados, Pablo, Skoloudik, David, Röther, Joachim, Norbert, Szegedi, Agnelli, Giancarlo, Bornstein, Natan, Tanahashi, Norio, Góngora, Angel Arauz, Pretell, Edwin, San Jose, Maria Cristina Z., Czlonkowska, Anna, Bajenaru, Ovidiu, Stakhovskaya, Ludmila, Brozman, Miroslav, Kim, Jong-Sung, Wahlgren, Nils, Michel, Patrik, Lee, Tsong Hai, Suwanwela, Nijasri Charnnarong, Kutluk, Kursad, Moskovko, Sergii, Kasner, Scott, Laskowitz, Daniel, Clark, Wayne, Nguyen, Huy Thang, Ameriso, Sebastian, Lepera, Sandra, Romano, Marina, Paulon, David, Ioli, Pablo, Zurru, Cristina, Bruera, Guadalupe, Jure, Lorena, Klein, Francisco, Povedano, Guillermo, Levi, Christopher, Phan, Thanh, Markus, Romesh, Anderson, Craig, Sabet, Arman, Davis, Stephen, Lee, Andrew, Kleinig, Timothy, Wong, Andrew, Krause, Martin, Jannes, Jim, Wijeratne, Tissa, Lemmens, Robin, Hemelsoet, Dimitri, Peeters, André, Tack, Philippe, Vanacker, Peter, Laloux, Patrice, Van Landegem, William, Vanhooren, Geert, Desfontaines, Philippe, Van Orshoven, Marc, Oliveira, Fabio, Friedrich, Mauricio, Brondani, Rosane, Gagliardi, Rubens, Fabio, Soraia, Dracoulakis, Marianna, Bazan, Rodrigo, Marrone, Luiz, Pontes Neto, Octavio, Silva, Gisele, Kowacs, Pedro, Titianova, Ekaterina, Stamenova, Paraskeva, Daskalov, Marin, Staikov, Ivan, Baldaranov, Dimo, Maslarov, Dimitar, Lilovski, Hristo, Petkov, Plamen, Petrova, Neli, Mavrov, Radoslav, Markova, Veska, Petrova, Valeria, Beleva, Tanya, Kralev, Borislav, Sotirov, Nikolay, Lekova, Veska, Hristov, Dimcho, Ermenkova, Vera, Mateev, Lyudmil, Mitkova, Rumeliya, Haralanov, Liybomir, Ikonomov, Rosen, Mihailova, Margarita, Georgiev, Ivan, Shuaib, Ashfaq, Hachinski, Vladimir, Boulanger, Jean-Martin, Mann, Sharan, Hassan, Ayman, Mackey, Ariane, Menon, Bijoy, Minuk, Jeffrey, Siddiqui, Muzaffar, Eustace, Marsha, Vieira, Lucia, Selchen, Daniel, Beaudry, Michel, Stotts, Grant, Lavados, Pablo, Castro, Angel, Gasic, Kristo, Rivas, Rodrigo, Sanchez, Pablo, Roldan, Andres, Grossmann, Ingrid, Figueroa, Christian, Li, Jimei, Xu, Xiaolin, Chen, Huisheng, Li, Xiaohong, Yang, Yi, Zhang, Chunsheng, Wang, Baojun, Li, Guanglai, Wang, Dong, Lin, Hong, Tang, Yamei, Xu, Anding, Wang, Yanjiang, Hong, Wenke, Song, Zhi, Zhang, Xu, Jin, Xiaoping, Xu, Yun, Yan, Fuling, Zheng, Weihong, Wang, Xiaoping, Dong, Qiang, Zhao, Zhongxin, Zhang, Baorong, Zhong, Wangtao, Wen, Guoqiang, Xu, Jun, Li, Guozhong, Dong, Xueshuang, Tian, Xiangyang, Zhang, Zhaohui, Xu, En, Liu, Kaixiang, Chen, Jun, Skoda, Ondrej, Skoloudik, David, Ehler, Edvard, Vaclavik, Daniel, Sanak, Daniel, Klimosova, Sylva, Vitkova, Eva, Fiksa, Jan, Mikulik, Robert, Neumann, Jiri, Plny, Richard, Leys, Didier, Sibon, Igor, Mas, Jean-Louis, Alamowitch, Sonia, Pico, Fernando, Hosseini, Hassan, Mahagne, Marie-Hélène, Touze, Emmanuel, Vadot, Wilfried, Vannier, Stéphane, Nighoghossian, Norbert, Samson, Yves, Garnier, Pierre, Ellie, Emmanuel, Guillon, Benoît, Timsit, Serge, Giroud, Maurice, Philippeau, Frédéric, Bagan-Triquenot, Aude, Wolff, Valérie, Raposo, Nicolas, Obadia, Michel, Debiais, Severine, Grimaud, Jérôme, Illouz, Stéphane, Smadja, Didier, Urbanczyk, Cédric, Röther, Joachim, Berrouschot, Jörg, Weimar, Christian, Gahn, Georg, Soda, Hassan, Klimpe, Sven, Nabavi, Darius, Glahn, Jörg, Köhrmann, Martin, Krause, Lars, Terborg, Christoph, Urban, Peter, Steiner, Thorsten, Ferbert, Andreas, Dziewas, Rainer, Seidel, Günter, Thomalla, Götz, Li, Richard, Fong, Wing Chi, Cheung, Raymond, Szegedi, Norbert, Pozsegovits, Krisztián, Valikovics, Attila, Pánczél, Gyula, Rózsa, Csilla, Németh, László, Diószeghy, Péter, Óváry, Csaba, Csányi, Attila, Kerényi, Levente, Nagy, Valéria, Komoly, Sámuel, Bereczki, Dániel, Molnár, Sándor, Kondákor, István, Tanne, David, Raphaeli, Guy, Telman, Gregory, Bornstein, Natan, Leker, Ronen, Lampl, Yair, Agnelli, Giancarlo, Corea, Francesco, Ricci, Stefano, Guidetti, Donata, Malferrari, Giovanni, Marcheselli, Simona, Micieli, Giuseppe, Zini, Andrea, Di Lazzaro, Vincenzo, Gandolfo, Carlo, Salmaggi, Andrea, Tassi, Rossana, Rasura, Maurizia, Orlandi, Giovanni, Comi, Giancarlo, Ricci, Stefano, Mancuso, Michelangelo, Delodovici, Marialuisa, Bovi, Paolo, Consoli, Domenico, Utsugisawa, Kimiaki, Fujita, Tsuneo, Kurihara, Hideyuki, Maruki, Chikashi, Hayashi, Takeshi, Ogiichi, Tsuneaki, Kumagai, Morio, Takenaka, Katsunobu, Toyoda, Kazunori, Takamatsu, Kazuhiro, Ogami, Ryo, Kin, Shigenari, Aoki, Takeshi, Takizawa, Katsumi, Omori, Shigehiro, Umezawa, Takehiko, Toba, Yasuyuki, Nonoyama, Yutaka, Nakagawa, Hidemitsu, Naka, Takashi, Morimoto, Masanori, Matsumoto, Shuichi, Hitotsumatsu, Tsutomu, Shingaki, Tatsuya, Okuda, Satoshi, Ota, Mamoru, Sakai, Nobuyuki, Yamada, Takeshi, Niwa, Jun, Fujita, Hitoshi, Moriki, Akihito, Yoshino, Kimihiro, Fukushima, Yoshihisa, Mori, Takahisa, Sato, Atsushi, Kusano, Yoshikazu, Kubo, Michiya, Yamazaki, Masashi, Ooasa, Takao, Nishizaki, Takafumi, Kitagawa, Naoki, Yasaka, Masahiro, Manabe, Yasuhiro, Yoshioka, Akira, Ishihara, Masayuki, Kagawa, Takato, Ichihashi, Toshikazu, Matsuoka, Hideki, Ito, Yasuhiro, Yamasaki, Masahiro, Takaba, Hitonori, Saito, Hisatoshi, Sato, Masahiro, Fukuda, Kazumasa, Endo, Sumio, Kidooka, Minoru, Umemura, Toshitaka, Kikkawa, Yuriko, Toru, Shuta, Yamada, Kentaro, Sakai, Hideki, Asari, Jun, Ezura, Masayuki, Nitta, Hisashi, Nagano, Keiko, Ochiai, Jun, Sakai, Keiichi, Kobayashi, Yasutaka, Yoshii, Yasuhiro, Miake, Hirotomo, Takita, Tomohiro, Taniguchi, Hidekazu, Kuroki, Kazuhiko, Mizota, Takamitsu, Yamamoto, Kenichi, Nakane, Hiroshi, Iwanaga, Takeshi, Chiba, Kei, Yoshimoto, Tetsuyuki, Torii, Tsuyoshi, Kitagawa, Takeo, Takashima, Hiroshi, Shirasaki, Naoki, Dehara, Makoto, Wada, Naomichi, Hamada, Kensuke, Kato, Noriyuki, Go, Yoshinori, Izumi, Ichiro, Ninomiya, Hirotomo, Kumai, Junichiro, Nakajima, Yoshikazu, Kaku, Yasuhiko, Isayama, Yukihiro, Kawanishi, Masahiro, Noda, Shinya, Yamamoto, Kazuhide, Hazama, Takanori, Takahashi, Hiroshi, Tanaka, Yohei, Hata, Takashi, Kazekawa, Kiyoshi, Furui, Eisuke, Hondo, Hideki, Sato, Nobuyuki, Kusunoki, Katsusuke, Nanri, Kazunori, Abe, Satoshi, Sasaoka, Noboru, Kuroyanagi, Takayuki, Suzuki, Hisahiko, Fukuyama, Kouzou, Nakahara, Kimihiro, Gongora, Fernando, Góngora, Angel Arauz, Cantú Brito, Carlos, Villarreal Careaga, Jorge, Vazquez Alfaro, Rosalia, Aguayo Leytte, Geronimo, Berrospi, Percy, Chavez, Carlos, Pretell, Edwin, Rodriguez, Liliana, Custodio, Nilton, Castañeda, Cesar, Perez, Julio, San Jose, Maria Cristina, Baroque, Alejandro, Collantes, Epifania, Aquino, Abdias, Díaz, Alejandro, Roxas, Artemio, Jr, Lokin, Johnny, Advincula, Joel, Calderon, Emerito, Navarro, Jose, Hiyadan, John, Surdilla, Arturo, Czlonkowska, Anna, Ryglewicz, Danuta, Krychowiak, Grzegorz, Fryze, Waldemar, Sobolewski, Piotr, Nowak, Ryszard, Fiszer, Urszula, Papierowska, Beata, Zielińska-Turek, Justyna, Lasek-Bal, Anetta, Kołodziejska, Ewa, Kamińska, Anna, Adamkiewicz, Bożena, Tutaj, Andrzej, Szkopek, Dorota, Musiatowicz, Krzysztof, Bąk, Zbigniew, Brzozowski, Sławomir, Brola, Waldemar, Ferens, Antoni, Zalisz, Marek, Rejdak, Konrad, Rudzińska, Monika, Bajenaru, Ovidiu, Panea, Cristina, Simu, Mihaela, Balasa, Rodica, Cuciureanu, Iulian, Popescu, Bogdan, Sabau, Monica, Roman-Filip, Corina, Pimenov, Leonid, Gekht, Alla, Milto, Anna, Shchukin, Ivan, Parfenov, Vladimir, Stakhovskaya, Liudmila, Arkhipov, Mikhail, Sokolova, Nadezhda, Bogdanov, Enver, Esin, Radiy, Khasanova, Dina, Golikov, Konstantin, Melnikova, Elena, Zaslavskiy, Leonid, Voznyuk, Igor, Nazarov, Alexander, Akhmadeeva, Leila, Iakupova, Aida, Shamalov, Nikolay, Belskaya, Galina, Chuprina, Svetlana, Denisova, Olga, Drozdova, Ekaterina, Karakulova, Yuliya, Sholomov, Ilya, Spirin, Nikolay, Vostrikova, Elena, Mordvintseva, Elena, Grigoryeva, Vera, Zateyshchikov, Dmitry, Gorbachev, Vladimir, Chefranova, Zhanna, Dudarev, Mikhail, Nilk, Rostislav, Rozhdestvenskiy, Alexey, Gurcik, Ladislav, Dvorak, Miloslav, Krastev, Georgi, Kurca, Egon, Vyletelka, Juraj, Brozman, Miroslav, Kim, Jong Sung, Bae, Hee-Joon, Kim, Yong-Won, Kim, Joon-Tae, Cha, Jae-Kwan, Nam, Hyo Suk, Chang, Dae-Il, Lee, Yong-Seok, Oh, Kyungmi, Yu, Sung-Wook, Sohn, Sung-Il, Lee, Jun, Cho, Han Jin, Kim, Eung-Gyu, Rha, Joung-Ho, Kim, Seo Hyun, Molina Cateriano, Carlos, Serena Leal, Joaquín, Vivancos Mora, José, Rodríguez Yañez, Manuel, Roquer González, Jaume, Purroy García, Francisco, Gomis Cortina, Meritxell, Masjuan Vallejo, Jaime, Arenillas Lara, Juan, Segura Martín, Tomás, Herrero, José Antonio Egido, Tembl Ferrairó, Jose Ignacio, Gállego Culleré, Jaime, Moniche Álvarez, Francisco, Steinberg, Anna, Callander, Margarita, Laska, Ann Charlotte, Bokemark, Lena, Mooe, Thomas, Käll, Tor-Björn, Welin, Lennart, Sjöblom, Lars, Hambraeus, Joakim, Teichert, Jörg, Wannberg, Hans, Sanner, Johan, Ramströmer, Bo, Ziedén, Bo, Hau, Stefan Olsson, Gustafsson, Claes, Michel, Patrik, Kahles, Timo, Lyrer, Philippe, Arnold, Marcel, Liesch, Martin, Medlin, Friedrich, Cereda, Carlo, Kägi, Georg, Luft, Andreas, Carrera, Emmanuel, Lee, Tsong-Hai, Po, Helen L., Chern, Chang-Ming, Lien, Li-Ming, Chan, Lung, Liu, Chung-Hsiang, Wu, Shey-Lin, Lee, Jiann-Der, Chen, Chih-Hung, Lin, Huey-Juan, Lin, Ruey-Tay, Chen, Wei-Hsi, Sun, Yu, Suwanwela, Nijasri Charnnarong, Tantirittisak, Tasanee, Muengtaweepongsa, Sombat, Nilanont, Yongchai, Tiamkao, Somsak, Udommongkol, Chesda, Watcharasaksilp, Kanokwan, Jantararotai, Witoon, Kutluk, Kursad, Sirin, Hadiye, Ince, Birsen, Asil, Talip, Arsava, Murat, Incesu, Tulay Kurt, Tireli, Hulya, Kucukoglu, Hayriye, Ak, Fikri, Unal, Ali, Ozturk, Serefnur, Uzuner, Nevzat, Chmyr, Galyna, Lebedynets, Volodymyr, Nikonov, Vadym, Shulga, Lyudmyla, Smolanka, Volodymyr, Moskovko, Sergii, Khavunka, Marta, Yavorska, Valentyna, Tomakh, Nataliya, Kozyolkin, Olexandr, Litovaltseva, Galyna, Lansberg, Maarten, Bernstein, Richard, Brown, David, Clark, Wayne, Dissin, Jonathan, Graffagnino, Carmelo, Harris, Jonathan, Hicks, William, Kasner, Scott, Katzan, Irene, Kramer, Jeffrey, Willey, Joshua, Silliman, Scott, Starkman, Sidney, Thaler, David, Tremwel, Margaret, Concha, Mauricio, Rajamani, Kumar, Dandapani, Bhuvaneswari, Silver, Brian, Deal, Nathan, Chang, Ira, Hassan, Ameer, Rudolph, Steven, Fischer, Kenneth, Kirshner, Howard, Logan, William, Mallenbaum, Sidney, Hefzy, Hebah, Latorre, Julius, Levine, Steven, Ciabarra, Anthony, Dafer, Rima, Anyanwu, Benjamin, Cherian, Laurel, Panezai, Spozhmy, Khanna, Anna, Dodds, Jodi, Torbey, Michel, Gebel, James, Woo, Henry, Chiu, David, Androulakis, Xiao, Burgin, William, Pineda, Maria, Yilmaz, Engin, Altafullah, Irfan, Boutwell, Christine, Cruz-Flores, Salvador, Sapkota, Biggya, Fayad, Pierre, Jacoby, Michael, Rafiq, Shahid, Salgado, Efrain, Lafranchise, Eugene, Felton, Warren, Madhavan, Ramesh, Zaidat, Osama, Pieper, Connie, Riviello, Ralph, Burnett, Aaron, Fischer, Michelle, Gentile, Nina, Calder, Christopher, Dietrich, Dennis, Cross, Jonathan, Blankenship, Larry, Dafer, Rima, Montoya, Liliana, Grogan, Wendell, Young, Mark, Khan, Farrukh, Campbell, Duane, Daboul, Nizar, Espinoza, Andrey, Cullis, Paul, Concepcion, Gilberto, Wulff, John, Afzal, Haider, Jaffrani, Naseem, Reiter, William, Arshad, Tamjeed, Lukovits, Timothy, Welker, James, Chang, Fen Lei, Badruddin, Aamir, Babikian, Viken, Menon, Ravi, Sander, James, Springer, Mellanie, Nanda, Ashish, Mas, Luis, Rajan, Raj, Silverman, Bruce, Hefzy, Hebah, Huang, David, Carpenter, David, Clark, Joni, Ching, Marilou, Santhakumar, Sunitha, Gould, Jeffrey, Bansal, Vibhav, Vidal, Gabriel, Mikesell, Timothy, Brick, John, French, William, Shah, Qaisar, Holmstedt, Christine, Ishag-Osman, Nadir, Kostis, John, Shehadeh, Abbas, Sethi, Pramodkumak, Imam, Asher, Mccomas, Carl, Tran, Duc, Gebreyohanns, Mehari, Wiseman, Brian, Malik, Maheen, Schwarcz, Aron, Altschul, Dorothea, Castaldo, John, Alshekhlee, Amer, Gancher, Stephen, Krish, Nagesh, Nguyen-Huynh, Mai, Tremwell, Margaret, Sharma, Jitendra, Lee, Lance, Neil, William, Siddiqui, Fazeel, Malek, Ali, Romero, Charles, Huy, Thang Nguyen, Hoang, Hoa, Nguyen, Thang, Nguyen, Anh, and Nguyen, Hung

Published
2017
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24. Brain-Stem Syndromes

Author

Krieger, Derk, Pessin, Michael S., Ferbert, Andreas, Hanley, Daniel F., Hacke, Werner, editor, Hanley, Daniel F., editor, Einhäupl, Karl M., editor, Bleck, Thomas P., editor, Diringer, Michael N., editor, and Ropper, Allan H., editor

Published
1994
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27. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Author

Safka Brozkova, Dana, Deconinck, Tine, Beth Griffin, Laurie, Ferbert, Andreas, Haberlova, Jana, Mazanec, Radim, Lassuthova, Petra, Roth, Christian, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Janecke, Andreas R., Zavadakova, Petra, Chrast, Roman, Rivolta, Carlo, Zuchner, Stephan, Antonellis, Anthony, Beg, Asim A., De Jonghe, Peter, Senderek, Jan, Seeman, Pavel, and Baets, Jonathan

Published
2015
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32. Posterior reversible encephalopathy syndrome: long-term follow-up

Author

Roth, Christian and Ferbert, Andreas

Subjects
Encephalopathy -- Prognosis, Encephalopathy -- Diagnosis, Encephalopathy -- Surveys, Magnetic resonance imaging -- Usage, Health surveys -- Methods, Health, Psychology and mental health
Published
2010

34. Mutations in GNAL: A Novel Cause of Craniocervical Dystonia

Author

Kumar, Kishore R., Lohmann, Katja, Masuho, Ikuo, Miyamoto, Ryosuke, Ferbert, Andreas, Lohnau, Thora, Kasten, Meike, Hagenah, Johann, Brüggemann, Norbert, Graf, Julia, Münchau, Alexander, Kostic, Vladimir S., Sue, Carolyn M., Domingo, Aloysius R., Rosales, Raymond L., Lee, Lilian V., Freimann, Karen, Westenberger, Ana, Mukai, Youhei, Kawarai, Toshitaka, Kaji, Ryuji, Klein, Christine, Martemyanov, Kirill A., and Schmidt, Alexander

Published
2014
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37. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

Author

Lohmann, Katja, Wilcox, Robert A., Winkler, Susen, Ramirez, Alfredo, Rakovic, Aleksandar, Park, Jin-Sung, Arns, Björn, Lohnau, Thora, Groen, Justus, Kasten, Meike, Brüggemann, Norbert, Hagenah, Johann, Schmidt, Alexander, Kaiser, Frank J., Kumar, Kishore R., Zschiedrich, Katja, Alvarez-Fischer, Daniel, Altenmüller, Eckart, Ferbert, Andreas, Lang, Anthony E., Münchau, Alexander, Kostic, Vladimir, Simonyan, Kristina, Agzarian, Marc, Ozelius, Laurie J., Langeveld, Antonius P. M., Sue, Carolyn M., Tijssen, Marina A. J., and Klein, Christine

Published
2013
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41. Role of ANO3 mutations in dystonia: A large-scale mutational screening study

Author

Olschewski, Luisa, Jesús, Silvia, Kim, Han-Joon, Tunc, Sinem, Löns, Sebastian, Junker, Johanna, Zeuner, Kirsten E., Kühn, Andrea A., Kuhlenbäumer, Gregor, Schäffer, Eva, Berg, Daniela, Kasten, Meike, Ferbert, Andreas, Altenmüller, Eckart, Brüggemann, Norbert, Bauer, Peter, Rolfs, Arndt, Jeon, Beomseok, Bäumer, Tobias, Mir, Pablo, Klein, Christine, and Lohmann, Katja

Published
2019
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42. Differential diagnosis of vacuolar myopathies in the NGS era

Author

Mair, Dorothea, primary, Biskup, Saskia, additional, Kress, Wolfram, additional, Abicht, Angela, additional, Brück, Wolfgang, additional, Zechel, Sabrina, additional, Knop, Karl Christian, additional, Koenig, Fatima Barbara, additional, Tey, Shelisa, additional, Nikolin, Stefan, additional, Eggermann, Katja, additional, Kurth, Ingo, additional, Ferbert, Andreas, additional, and Weis, Joachim, additional

Published
2020
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44. Screening of ARHSP-TCC Patients Expands the Spectrum of SPG11 Mutations and Includes a Large Scale Gene Deletion

Author

Denora, Paola S., Schlesinger, David, Casali, Carlo, Kok, Fernando, Tessa, Alessandra, Boukhris, Amir, Azzedine, Hamid, Teresa Dotti, Maria, Bruno, Claudio, Truchetto, Jeremy, Biancheri, Roberta, Fedirko, Estelle, Di Rocco, Maja, Bueno, Clarissa, Malandrini, Alessandro, Battini, Roberta, Sickl, Elisabeth, de Leva, Maria Fulvia, Boespflug-Tanguy, Odile, Silvestri, Gabriella, Simonati, Alessandro, Said, Edith, Ferbert, Andreas, Criscuolo, Chiara, Heinimann, Karl, Modoni, Anna, Weber, Peter, Palmeri, Silvia, Plasilova, Martina, Pauri, Flavia, Cassandrini, Denise, Battisti, Carla, Pini, Antonella, Tosetti, Michela, Hauser, Erwin, Masciullo, Marcella, Di Fabio, Roberto, Piccolo, Francesca, Denis, Elodie, Cioni, Giovanni, Massa, Roberto, Giustina, Elvio Della, Calabrese, Olga, Melone, Marina A.B., De Michele, Giuseppe, Federico, Antonio, Bertini, Enrico, Durr, Alexandra, Brockmann, Knut, Knaap, Marjo S. van der, Zatz, Mayana, Filla, Alessandro, Brice, Alexis, Stevanin, Giovanni, and Santorelli, Filippo M.

Published
2009
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45. Role of ANO3 mutations in dystonia: A large-scale mutational screening study

Author

Federal Ministry of Education and Research (Germany), Olschewski, Luisa, Jesús Maestre, Silvia, Kim, Han-Joon, Tunc, Sinem, Löns, Sebastian, Junker, Johanna, Zeuner, Kirsten E., Kühn, Andrea A., Kuhlenbäumer, Gregor, Schäffer, Eva, Berg, Daniela, Kasten, Meike, Ferbert, Andreas, Altenmüller, Eckart, Brüggemann, Norbert, Bauer, Peter, Rolfs, Arndt, Jeon, Beomseok, Bäumer, Tobias, Mir, Pablo, Klein, Christine, Lohmann, Katja, Federal Ministry of Education and Research (Germany), Olschewski, Luisa, Jesús Maestre, Silvia, Kim, Han-Joon, Tunc, Sinem, Löns, Sebastian, Junker, Johanna, Zeuner, Kirsten E., Kühn, Andrea A., Kuhlenbäumer, Gregor, Schäffer, Eva, Berg, Daniela, Kasten, Meike, Ferbert, Andreas, Altenmüller, Eckart, Brüggemann, Norbert, Bauer, Peter, Rolfs, Arndt, Jeon, Beomseok, Bäumer, Tobias, Mir, Pablo, Klein, Christine, and Lohmann, Katja

Abstract

[Background] The role of ANO3 variants as a monogenic cause of dystonia is still under debate because of its relatively high frequency also in controls., [Objective] To screen >1000 patients with movement disorders for rare ANO3 variants., [Methods] We searched for rare ANO3 variants in 729 dystonia and 294 Parkinson's disease (PD) patients using a gene panel. Variants were validated by Sanger sequencing. For one variant carrier, family members were available for segregation analysis., [Results] Nine carriers (seven with dystonia [1.0%], two with PD [0.7%]) of seven different rare, protein-changing variants were identified. None of these variants has been previously reported in dystonia patients. Two of the variants in dystonia patients were found recurrently: p.Arg328Cys was detected in two Korean and p.Arg969Gln in two German patients. The frequency of these two variants in our sample seemed to be higher as in ethnically matched samples from the Genome Aggregation Database (GnomAD). Further, we identified a patient with early-onset, generalized dystonia with a de-novo variant in ANO3 (p.Val561Glu). Of note, she benefitted from deep brain stimulation., [Conclusion] This study confirms the relatively high frequency of rare, protein-changing ANO3 variants in both dystonia and non-dystonia patients indicating that not all variants contribute to the disease. Thus, disease relevance of novel variants remains difficult to interpret and functional studies are warranted for a better understanding of the role of ANO3 variants in dystonia. In contrast, de-novo variants in childhood-onset, generalized dystonia seem to represent an as yet underestimated phenotypic expression of changes in ANO3.

Published
2019

49. Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies

Author

Dohrn, Maike F, Glöckle, Nicola, Mulahasanovic, Lejla, Heller, Corina, Mohr, Julia, Bauer, Christine, Riesch, Erik, Becker, Andrea, Battke, Florian, Hörtnagel, Konstanze, Hornemann, Thorsten, Suriyanarayanan, Saranya, Blankenburg, Markus, Schulz, Jörg B, Claeys, Kristl G, Gess, Burkhard, Katona, Istvan, Ferbert, Andreas, Vittore, Debora, Grimm, Alexander, Wolking, Stefan, Schöls, Ludger, Lerche, Holger, Korenke, G Christoph, Fischer, Dirk, Schrank, Bertold, Kotzaeridou, Urania, Kurlemann, Gerhard, Dräger, Bianca, Schirmacher, Anja, et al, and University of Zurich

Subjects
1303 Biochemistry, 540 Chemistry, 2804 Cellular and Molecular Neuroscience, 610 Medicine & health, 10038 Institute of Clinical Chemistry
Published
2017
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50. Additional file 1: Table S1. of Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

Author

Schnitzler, Lukas, Schreckenbach, Tobias, Nadaj-Pakleza, Aleksandra, Stenzel, Werner, Rushing, Elisabeth, Damme, Philip Van, Ferbert, Andreas, Petri, Susanne, Hartmann, Christian, Bornemann, Antje, Meisel, Andreas, Petersen, Jens, Tousseyn, Thomas, Thal, Dietmar, Reimann, Jens, Jonghe, Peter De, Jean-Jacques Martin, Bergh, Peter Van Den, JĂśrg Schulz, Weis, Joachim, and Claeys, Kristl

Abstract

Genetic variants identified in patients with SLONM using NGS and a panel of 283 genes. (DOC 72 kb)

Published
2017
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