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1. 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, 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

Abstract

Supplemental Digital Content is available in the text.

Published
2017
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2. Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

Author

Storbeck, Markus, Horsberg Eriksen, Beate, Unger, Andreas, Hölker, Irmgard, Aukrust, Ingvild, Martínez-Carrera, Lilian A, Linke, Wolfgang A, Ferbert, Andreas, Heller, Raoul, Vorgerd, Matthias, Houge, Gunnar, and Wirth, Brunhilde

Abstract

Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness and atrophy that mainly affects the lower extremities, although some affected individuals show involvement of the arms and the shoulder girdle. Here we report unusual extremes of BICD2-related diseases: A severe form of congenital muscular atrophy with arthrogryposis multiplex, respiratory insufficiency and lethality within four months. This was caused by three BICD2 variants, (c.581A>G, p.(Gln194Arg)), (c.1626C>G, p.(Cys542Trp)) and (c.2080C>T, p.(Arg694Cys)), two of which were proven to be de novo. Affected individuals showed reduced fetal movement, weak muscle tone and sparse or no spontaneous activity after birth. Despite assisted ventilation, the condition led to early death. At the other extreme, we identified an asymptomatic woman with a known BICD2 variant (c.2108C>T, p.(Thr703Met)). Radiological examination showed fatty degeneration of selected thigh and calf muscles without clinical consequences. Instead, her son carrying the same variant is affected by a mild childhood onset disease with myopathic and neurogenic features. Mechanisms leading to variable expressivity and onset of BICD2-related disease may include alterations in molecular interactions of BICD2 and suggest the presence of genetic modifiers that may act in a protective fashion to ameliorate or abrogate disease. Our data define an additional severe disease type caused by BICD2 and emphasize a possibly variable etiology of BICD2-opathies with regard to primary muscle and neuronal involvement.

Published
2017
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4. 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

Abstract

IMPORTANCE Mutations in the GNAL gene have recently been shown to cause primary torsion dystonia. The GNAL-encoded protein (Gαolf) is important for dopamine D1 receptor function and odorant signal transduction. We sequenced all 12 exons of GNAL in 461 patients from Germany, Serbia, and Japan, including 318 patients with dystonia (190 with cervical dystonia), 51 with hyposmia and Parkinson disease, and 92 with tardive dyskinesia or acute dystonic reactions. OBSERVATIONS We identified the following two novel heterozygous putative mutations in GNAL: p.Gly213Ser in a German patient and p.Ala353Thr in a Japanese patient. These variants were predicted to be pathogenic in silico, were absent in ethnically matched control individuals, and impaired Gαolf coupling to D1 receptors in a bioluminescence energy transfer (BRET) assay. Two additional variants appeared to be benign because they behaved like wild-type samples in the BRET assay (p.Ala311Thr) or were detected in ethnically matched controls (p.Thr92Ala). Both patients with likely pathogenic mutations had craniocervical dystonia with onset in the fifth decade of life. No pathogenic mutations were detected in the patients with hyposmia and Parkinson disease, tardive dyskinesias, or acute dystonic reactions. CONCLUSIONS AND RELEVANCE Mutations in GNAL can cause craniocervical dystonia in different ethnicities. The BRET assay may be a useful tool to support the pathogenicity of identified variants in the GNAL gene.

Published
2014
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5. Transcallosal inhibition in cortical and subcortical cerebral vascular lesions

Author

Boroojerdi, Babak, Diefenbach, Klaus, and Ferbert, Andreas

Abstract

The excitability of the motor cortex after transcranial magnetic stimulation was investigated in 10 patients with purely subcortical, and in 22 patients with cortical-subcortical cerebrovascular lesions. In the first investigation we applied magnetic double stimuli over both motor cortices with different inter-stimulus intervals. The first (conditioning) stimulus was applied to the affected hemisphere and the second stimulus (test stimulus) to the unaffected side. The responses of the first dorsal interosseal (FDI) muscle, contralateral to the test stimulus, were recorded after applying the test stimulus alone and at inter-stimulus intervals of 5 ms, 7 ms, 15 ms, 30 ms and 60 ms. In a second investigation the patients were asked to activate their non-paretic first dorsal interosseus muscle and the magnetic stimulus was applied over the affected hemisphere. The EMG responses were rectified and averaged. Patients with subcortical cerebral lesions below the centrum semiovale (i.e., having no effect on the transcallosal fibres) displayed a pronounced inhibition of one motor cortex after the stimulation of the contralateral side, comparable with normal subjects. Patients with cortical-subcortical cerebral lesions displayed only partly less inhibition of their motor cortex but the results in this group were not uniform. Since inhibition was preserved in patients with subcortical lesions, which had destroyed the corticospinal tract, we conclude that this inhibition is not mediated through an ipsilateral projection but via a transcallosal route.

Published
1996
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6. Hereditary motor and sensory neuropathy (HMSN) and optic atrophy (HMSN type VI, Vizioli)

Author

Weiller, Cornelius and Ferbert, Andreas

Abstract

Summary Clinical and electrophysiological findings are described in three patients with hereditary motor and sensory neuropathy in association with optic atrophy (HMSN VI). The optic atrophy was of the Leber type in a 15-year-old boy. In a 70-year-old patient, as in three members of his family, optic atrophy was associated with tapetoretinal degeneration. In addition to HMSN and optic atrophy a 20-year-old man suffered from sensorineural deafness. Electrophysiological studies indicated a neuronal form of neuropathy, as in HMSN II. Brainstem auditory evoked potentials also revealed subclinical involvement of the central auditory pathways in the patients without hearing defects.

Published
1991
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7. German-Austrian Scape Occupying Cerebellar Infarction Study (GASCIS): study design, methods, patient characteristics

Author

Krieger, Derk, Busse, Otto, Schramm, Johannes, and Ferbert, Andreas

Abstract

An open prospective multicentric therapeutic trial to determine the timing and type of therapeutic intervention in patients presenting with secondary deterioration following cerebellar stroke is described. According to the results of retrospective studies a controlled approach comparing different therapies is ethically not feasible. Participants use the same scores and protocol for patient data collection but many choose different therapeutic procedures.

Published
1992
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