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Neurology

  • Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants
    Clément Desjardins, Frédéric Caux, Bertrand Degos, Djallel Benzohra, Astrid De Liège, Gérôme Bohelay, Michel Longy, Chloé Béreaux, Béatrice Garcin
    Journal of Medical Genetics Jan 2023, 60 (1) 91-98; DOI: 10.1136/jmedgenet-2021-107954
  • Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence
    Edgard Verdura, Bruno Senger, Miquel Raspall-Chaure, Agatha Schlüter, Nathalie Launay, Montserrat Ruiz, Carlos Casasnovas, Agustí Rodriguez-Palmero, Alfons Macaya, Hubert Dominique Becker, Aurora Pujol
    Journal of Medical Genetics Dec 2022, 59 (12) 1227-1233; DOI: 10.1136/jmg-2022-108529
  • Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders
    Anushree Acharya, Haluk Kavus, Patrick Dunn, Abdul Nasir, Leandra Folk, Kara Withrow, Ingrid M. Wentzensen, Maura R. Z. Ruzhnikov, Camille Fallot, Thomas Smol, Mélanie Rama, Kathleen Brown, Sandra Whalen, Alban Ziegler, Magali Barth, Anna Chassevent, Constance Smith-Hicks, Alexandra Afenjar, Thomas Courtin, Solveig Heide, Esperanza Font-Montgomery, Caleb Heid, J. Austin Hamm, Donald R. Love, Farouq Thabet, Vinod K. Misra, Mitch Cunningham, Suzanne M. Leal, Irma Jarvela, Elizabeth A. Normand, Fanggeng Zou, Mayada Helal, Boris Keren, Erin Torti, Wendy K. Chung, Isabelle Schrauwen
    Journal of Medical Genetics Jul 2022, 59 (7) 669-677; DOI: 10.1136/jmedgenet-2021-107871
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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

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