SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::274f8f5a2085b48b708286c483e9c28d
https://pubmed.ncbi.nlm.nih.gov/28558379

Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families

Autor: Fatma Nabli, Ghada El Euch-Fayache, Yosr Bouhlal, Monia B. Hammer, Amira Nasri, Houda Nehdi, Fayçal Hentati, Wieme Maamouri-Hicheri, Dalel Saidi, Rim Amouri

Publikováno v: Diagnostic molecular pathology : the American journal of surgical pathology, part B. 21(4)

Ataxia with oculomotor apraxia type 2 (AOA2) is a recently described autosomal recessive cerebellar ataxia caused by mutations in the SETX gene. It is a rare monogenic disease characterized by progressive cerebellar ataxia, oculomotor apraxia, axonal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d09d869480537be0a10810a2668c020
https://pubmed.ncbi.nlm.nih.gov/23111195

Front & Back Matter

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82e6cba70da3bc38ab028b1f4e507e29
https://doi.org/10.1159/000342185