Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, Makiko Tsutsumi, Francesca Bianco, Christian Bergamini, Farid Ullah, Federica Isidori, Irene Liparulo, Chiara Diquigiovanni, Luca Masin, Nicola Rizzardi, Mariapia Giuditta Cratere, Elisa Boschetti, Valentina Papa, Alessandra Maresca, Giovanna Cenacchi, Rita Casadio, Pierluigi Martelli, Ivana MateraIsabella Ceccherini, Romana Fato, Giuseppe Raiola, Serena Arrigo, Sara Signa, Angela Rita Sementa, Mariasavina Severino, Pasquale Striano, Chiara Fiorillo, Tsuyoshi Goto, Shumpei Uchino, Yoshinobu Oyazato, Hisayoshi Nakamura, Sushil K. Mishra, Yu Sheng Yeh, Takema Kato, Kandai Nozu, Jantima Tanboon, Ichiro Morioka, Ichizo Nishino, Tatsushi Toda, Yu Ichi Goto, Akira Ohtake, Kenjiro Kosaki, Yoshiki Yamaguchi, Ikuya Nonaka, Kazumoto Iijima, Masakazu Mimaki, Hiroki Kurahashi, Anja Raams, Alyson Macinnes, Mariel Alders, Marc Engelen, Gabor Linthorst, Tom De Koning, Wilfred Den Dunnen, Gerard Dijkstra, Karin Van Spaendonck, Dik C. Van Gent, Eleonora M. Aronica, Paolo Picco, Valerio Carelli, Marco Seri, Nicholas Katsanis, Floor A.M. Duijkers, Mariko Taniguchi-Ikeda, Roberto De Giorgio

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29 Citations (Scopus)

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Keyphrases

Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology

Neuroscience