PMC Links for Protein (Select 568215738) - PMC

Select item 50656611.

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

Noriko Miyake, Ryoko Fukai, Chihiro Ohba, Takahiro Chihara, Masayuki Miura, Hiroshi Shimizu, Akiyoshi Kakita, Eri Imagawa, Masaaki Shiina, Kazuhiro Ogata, Jiu Okuno-Yuguchi, Noboru Fueki, Yoshifumi Ogiso, Hiroshi Suzumura, Yoshiyuki Watabe, George Imataka, Huey Yin Leong, Aviva Fattal-Valevski, Uri Kramer, Satoko Miyatake, Mitsuhiro Kato, Nobuhiko Okamoto, Yoshinori Sato, Satomi Mitsuhashi, Ichizo Nishino, Naofumi Kaneko, Akira Nishiyama, Tomohiko Tamura, Takeshi Mizuguchi, Mitsuko Nakashima, Fumiaki Tanaka, Hirotomo Saitsu, Naomichi Matsumoto

Am J Hum Genet. 2016 Oct 6; 99(4): 950–961. Published online 2016 Sep 22. doi: 10.1016/j.ajhg.2016.08.005

PMCID:: PMC5065661

Abstract Article PDF–3.6M

Select item 50656572.

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

Antonella Sferra, Gilbert Baillat, Teresa Rizza, Sabina Barresi, Elisabetta Flex, Giorgio Tasca, Adele D’Amico, Emanuele Bellacchio, Andrea Ciolfi, Viviana Caputo, Serena Cecchetti, Annalaura Torella, Ginevra Zanni, Daria Diodato, Emanuela Piermarini, Marcello Niceta, Antonietta Coppola, Enrico Tedeschi, Diego Martinelli, Carlo Dionisi-Vici, Vincenzo Nigro, Bruno Dallapiccola, Claudia Compagnucci, Marco Tartaglia, Georg Haase, Enrico Bertini

Am J Hum Genet. 2016 Oct 6; 99(4): 974–983. Published online 2016 Sep 22. doi: 10.1016/j.ajhg.2016.08.006