You are here

Neurology

  • High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics
    Quentin Thomas, Antonio Vitobello, Frederic Tran Mau-Them, Yannis Duffourd, Agnès Fromont, Maurice Giroud, Benoit Daubail, Agnès Jacquin-Piques, Marie Hervieu-Begue, Thibault Moreau, Guy-Victor Osseby, Philippine Garret, Sophie Nambot, Julian Delanne, Ange-Line Bruel, Arthur Sorlin, Patrick Callier, Anne-Sophie Denomme-Pichon, Laurence Faivre, Yannick Béjot, Christophe Philippe, Christel Thauvin-Robinet, Sébastien Moutton
    Journal of Medical Genetics May 2022, 59 (5) 445-452; DOI: 10.1136/jmedgenet-2020-107369
  • Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease
    Jianwen Deng, Binbin Zhou, Jiaxi Yu, Xiaochen Han, Jianhui Fu, Xiaobin Li, Xufang Xie, Min Zhu, Yilei Zheng, Xueyu Guo, Pidong Li, Qingqing Wang, Jing Liu, Wei Zhang, Yun Yuan, Sheng Yao, Zhaoxia Wang, Daojun Hong
    Journal of Medical Genetics May 2022, 59 (5) 462-469; DOI: 10.1136/jmedgenet-2020-107649
  • MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNATrp and remarkable mitochondrial dysfunction
    Kunqian Ji, Yan Lin, Xuebi Xu, Wei Wang, Dongdong Wang, Chen Zhang, Wei Li, Yuying Zhao, Chuanzhu Yan
    Journal of Medical Genetics Jan 2022, 59 (1) 79-87; DOI: 10.1136/jmedgenet-2020-107323
  • Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment
    Pingping Song, Yuqing Guan, Xia Chen, Chaochen Wu, An Qiao, Haishan Jiang, Qi Li, Yingwei Huang, Wei Huang, Miaojing Xu, Ouattara Niemtiah, Chao Yuan, Wei Li, Liang Zhou, Zhongju Xiao, Suyue Pan, Yafang Hu
    Journal of Medical Genetics Sep 2021, 58 (9) 619-627; DOI: 10.1136/jmedgenet-2020-106925
  • Prenatal clinical manifestations in individuals with COL4A1/2 variants
    Toshiyuki Itai, Satoko Miyatake, Masataka Taguri, Fumihito Nozaki, Masayasu Ohta, Hitoshi Osaka, Masafumi Morimoto, Tomoko Tandou, Fumikatsu Nohara, Yuichi Takami, Fumitaka Yoshioka, Shoko Shimokawa, Jiu Okuno-Yuguchi, Mitsuo Motobayashi, Yuko Takei, Tetsuhiro Fukuyama, Satoko Kumada, Yohane Miyata, Chikako Ogawa, Yuki Maki, Noriko Togashi, Teruyuki Ishikura, Makoto Kinoshita, Yusuke Mitani, Yonehiro Kanemura, Tsuyoshi Omi, Naoki Ando, Ayako Hattori, Shinji Saitoh, Yukihiro Kitai, Satori Hirai, Hiroshi Arai, Fumihiko Ishida, Hidetoshi Taniguchi, Yasuji Kitabatake, Keiichi Ozono, Shin Nabatame, Robert Smigiel, Mitsuhiro Kato, Koichi Tanda, Yoshihiko Saito, Akihiko Ishiyama, Yushi Noguchi, Mazumi Miura, Takaaki Nakano, Keiko Hirano, Ryoko Honda, Ichiro Kuki, Jun-ichi Takanashi, Akihito Takeuchi, Tatsuya Fukasawa, Chizuru Seiwa, Atsuko Harada, Yusuke Yachi, Hiroyuki Higashiyama, Hiroshi Terashima, Tadayuki Kumagai, Satoshi Hada, Yoshiichi Abe, Etsuko Miyagi, Yuri Uchiyama, Atsushi Fujita, Eri Imagawa, Yoshiteru Azuma, Kohei Hamanaka, Eriko Koshimizu, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Hiroshi Doi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
    Journal of Medical Genetics Aug 2021, 58 (8) 505-513; DOI: 10.1136/jmedgenet-2020-106896
  • Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
    Francesco Nicita, Monia Ginevrino, Lorena Travaglini, Stefano D'Arrigo, Giovanna Zorzi, Renato Borgatti, Gaetano Terrone, Michela Catteruccia, Gessica Vasco, Vesna Brankovic, Sabrina Siliquini, Silvia Romano, Chiara Veredice, Marina Pedemonte, Michelina Armando, Donatella Lettori, Fabrizia Stregapede, Luca Bosco, Antonella Sferra, Valeria Tessarollo, Romina Romaniello, Giovanni Ristori, Enrico Bertini, Enza Maria Valente, Ginevra Zanni
    Journal of Medical Genetics Jul 2021, 58 (7) 475-483; DOI: 10.1136/jmedgenet-2020-107007
  • Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach
    Achilleas Laskaratos, Marianthi Breza, Georgia Karadima, Georgios Koutsis
    Journal of Medical Genetics Jun 2021, 58 (6) 385-391; DOI: 10.1136/jmedgenet-2020-106963
  • NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum
    Virginia Kimonis, Rehab al Dubaisi, Andrew E Maclean, Kathy Hall, Lan Weiss, Alexander E Stover, Philip H Schwartz, Bethany Berg, Cheng Cheng, Sumit Parikh, Blair R Conner, Sitao Wu, Anton N Hasso, Daryl A Scott, Mary Kay Koenig, Rachid Karam, Sha Tang, Moyra Smith, Elizabeth Chao, Janneke Balk, Eli Hatchwell, Peggy S Eis
    Journal of Medical Genetics May 2021, 58 (5) 314-325; DOI: 10.1136/jmedgenet-2020-106846
  • Sporadic vestibular schwannoma: a molecular testing summary
    Katherine V Sadler, Naomi L Bowers, Claire Hartley, Philip T Smith, Simon Tobi, Andrew J Wallace, Andrew King, Simon K W Lloyd, Scott Rutherford, Omar N Pathmanaban, Charlotte Hammerbeck-Ward, Simon Freeman, Emma Stapleton, Amy Taylor, Adam Shaw, Dorothy Halliday, Miriam Jane Smith, D Gareth Evans
    Journal of Medical Genetics Apr 2021, 58 (4) 227-233; DOI: 10.1136/jmedgenet-2020-107022
  • Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability
    Arisha Rasheed, Evren Gumus, Maha Zaki, Katherine Johnson, Humera Manzoor, Geneva LaForce, Danica Ross, Jennifer McEvoy-Venneri, Valentina Stanley, Sangmoon Lee, Abbir Virani, Tawfeg Ben-Omran, Joseph G Gleeson, Sadaf Naz, Ashleigh Schaffer
    Journal of Medical Genetics Apr 2021, 58 (4) 237-246; DOI: 10.1136/jmedgenet-2020-106849

Pages