Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Sean B. Chong"'
Autor:
Alexandra Durr, Monia B. Hammer, Rim Amouri, Ghada Eleuch-Fayache, Sean B. Chong, Jinhui Ding, Steven J. Clipman, Andrew B. Singleton, Fanny Mochel, Perrine Charles, Houda Nehdi, Giovanni Stevanin, Marie Coutelier, Dena G. Hernandez, Elisa Majounie, J. Raphael Gibbs, Alexis Brice, Fayçal Hentati, Yosr Bouhlal, Sampath Arepalli
Publikováno v:
Neuro-degenerative diseases. 17(4-5)
Background: Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with high clinical and genetic heterogeneity. In most cases, the cerebellar ataxia is not pure, and complicating clinical features such as py
Autor:
Yosr Bouhlal, Sampath Arepalli, Fayçal Hentati, Sean B. Chong, G. Eleuch‐Fayache, AB Singleton, R. Amouri, Celeste Sassi, Monia B. Hammer, J. R. Gibbs
Publikováno v:
European journal of neurology. 20(3)
Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. We studied three families diagnosed with ARCA.To determine the gene lesions responsible for their disorders, we performed high-dens
Autor:
Hana Stufkova, Jessica Mandrioli, Amelia Conte, Federica Violi, Elmar H. Pinkhardt, Takahiro Fukuda, Maria Carmela Tartaglia, Yosr Bouhlal, Hans-Jürgen Huppertz, Andrew B. Singleton, Daniela Vidinska, Marie Coutelier, Carla Sanchis-Segura, Ai-Ling Shen, David S. Howland, Margot Samson, María Sol Fittipaldi-Márquez, Alexis Brice, Jos Prinzen, Marco Vinceti, Francesco Curcio, Sean B. Chong, Mario Sabatelli, Chien-Yeh Hsu, Satz Mengensatzproduktion, Nuno Sousa, Giovanni Stevanin, Samir Abu-Rumeileh, Peter Grill, Che-Yi Chou, Ricardo Taipa, Valeria A. Sansone, Monika Macakova, Daniela Berg, Rob van Lummel, Rim Amouri, Antonio Baldi, Hsiu-Chen Lin, Hisashi Hashimoto, Olga Vintonyak, Jiri Klima, Perrine Charles, Nova Sanvilli, Jinhui Ding, Yuan-Fu Tseng, Daniel O. Claassen, Antonio Belenguer, Jana Krizova, Sampath K. Arepalli, Marie Rodinova, Manuel Melo Pires, Christian Lunetta, Cristina Forn, Alexandra Durr, Elisa Majounie, Markus A. Hobert, Gian Luigi Gigli, Silvia Del Din, Martina Fabris, Andrew C Robinson, Ghada Eleuch-Fayache, Jan Motlik, Steven J. Clipman, Inga Liepelt-Scarfone, Faycal Hentati, Dominik Blum, Zdenka Ellederova, Bernhard Cerff, Druckerei Stückle, J. Raphael Gibbs, Bernhard Michalke, Hana Hansikova, Hsiu-Li Lin, Sebastiano D'Anna, Cassandra Jessica Anor, Hans-Peter Müller, Dena G. Hernandez, Malte Kampmeyer, Tomonori Kawabe, César Ávila, Lucio D'Anna, Fanny Mochel, Houda Nehdi, Bozena Bohuslavova, Monia B. Hammer, Paulo Brochado, Mariarosaria Valente, David M. A. Mann, Nikolay Solovyev, Patrício Costa, Walter Maetzler, David F. Tang-Wai, Álvaro Javier Cruz-Gómez, Ron Keren, Cinzia Pistis, Albert C. Ludolph, Martin Gorges, Patricia Sulzer, Antonin Pavlok, Moriaki Kusakabe, Susanne Gräber, Sean O'Connor, Jiri Zeman, Amardeep Saund, Inês Reis, Jan Kassubek
Publikováno v:
Dermatology. 224:X-X
Autor:
Henry Houlden, Monia B. Hammer, Rim Amouri, A Sailer, Sean B. Chong, J. Raphael Gibbs, Huaibin Cai, Houda Nehdi, Lucia Schottlaender, Celeste Sassi, Yosr Bouhlal, Pramod K. Mistry, Sampath Arepalli, Ghada Eleuch-Fayache, Ginamarie Shrader, Guoxiang Liu, Andrew B. Singleton, Dena G. Hernandez, Fayçal Hentati
Publikováno v:
The American Journal of Human Genetics. (2):245-251
Autosomal-recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders with more than 20 different forms currently recognized, many of which are also associated with increased tone and some of which have