Clinical neurology and neurosurgery 204 106612-106612 2021年5月
Pial arteriovenous fistulas (AVFs) are rare vascular lesions; their exact pathophysiology is largely unknown. Pial AVFs have been reported to develop within capillary malformation-arteriovenous malformation (CM-AVM); however, only a few cases have...
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 Matera   Isabella 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   
Brain : a journal of neurology 144(5) 1451-1466 2021年4月
Abnormal gut motility is a feature of several mitochondrial encephalomyopathies, and mutations in genes such as TYMP and POLG, have been linked to these rare diseases. The human genome encodes three DNA ligases, of which only one, ligase III (LIG3...