Ausgabe 4/2012
Inhalt (9 Artikel)
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance
Yoshinori Tsurusaki, Shinji Saitoh, Kazuhiro Tomizawa, Akira Sudo, Naoko Asahina, Hideaki Shiraishi, Jun-ichi Ito, Hajime Tanaka, Hiroshi Doi, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto
Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function
Sandesh C. S. Nagamani, Ayelet Erez, Frank J. Probst, Patricia Bader, Patricia Evans, Linda A. Baker, Ping Fang, Terry Bertin, Patricia Hixson, Pawel Stankiewicz, David Nelson, Ankita Patel, Sau Wai Cheung
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR
A. Terracciano, N. Specchio, F. Darra, A. Sferra, B. Dalla Bernardina, F. Vigevano, E. Bertini
C3KO mouse expression analysis: downregulation of the muscular dystrophy Ky protein and alterations in muscle aging
Oihane Jaka, Irina Kramerova, Margarita Azpitarte, Adolfo López de Munain, Melissa Spencer, Amets Sáenz
Late-onset Charcot–Marie–Tooth disease 4F caused by periaxin gene mutation
Shoko Tokunaga, Akihiro Hashiguchi, Akiko Yoshimura, Kengo Maeda, Takashi Suzuki, Hiroyo Haruki, Tomonori Nakamura, Yuji Okamoto, Hiroshi Takashima
Mosaic DCX deletion causes subcortical band heterotopia in males
Chloé Quélin, Yoann Saillour, Isabelle Souville, Karine Poirier, Marie Ange N’Guyen-Morel, Laurent Vercueil, Anne Elodie Millisher-Bellaiche, Nathalie Boddaert, Fanny Dubois, Jamel Chelly, Cherif Beldjord, Nadia Bahi-Buisson
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis
Alessandra Torraco, Daniela Verrigni, Teresa Rizza, Maria Chiara Meschini, Martha Elisa Vazquez-Memije, Diego Martinelli, Marzia Bianchi, Fiorella Piemonte, Carlo Dionisi-Vici, Filippo Maria Santorelli, Enrico Bertini, Rosalba Carrozzo