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Neurology

  • Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature
    Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, Joseph C Roney, Jenny Serra-Vinardell, Prashant Sharma, David R Adams, John I Gallin, Steven M Holland, Sergio D Rosenzweig, Jose Barbot, Carla Ciccone, Marjan Huizing, Camilo Toro, William A Gahl, Wendy J Introne, May Christine V Malicdan
    Journal of Medical Genetics Mar 2024, 61 (3) 212-223; DOI: 10.1136/jmg-2023-109420
  • Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis
    Solveig Heide, Emanuela Argilli, Stéphanie Valence, Lucile Boutaud, Nathalie Roux, Cyril Mignot, Caroline Nava, Boris Keren, Kim Giraudat, Anne Faudet, Anna Gerasimenko, Catherine Garel, Eleonore Blondiaux, Agnès Rastetter, David Grevent, Carolyn Le, Lisa Mackenzie, Linda Richards, Tania Attié-Bitach, Christel Depienne, Elliott Sherr, Delphine Héron
    Journal of Medical Genetics Mar 2024, 61 (3) 244-249; DOI: 10.1136/jmg-2023-109293
  • Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2
    Natalia Ogonowski, Hernando Santamaria-Garcia, Sandra Baez, Andrea Lopez, Andrés Laserna, Elkin Garcia-Cifuentes, Paola Ayala-Ramirez, Ignacio Zarante, Fernando Suarez-Obando, Pablo Reyes, Marcelo Kauffman, Nick Cochran, Michael Schulte, Daniel W Sirkis, Salvatore Spina, Jennifer S Yokoyama, Bruce L Miller, Kenneth S Kosik, Diana Matallana, Agustín Ibáñez
    Journal of Medical Genetics Sep 2023, 60 (9) 894-904; DOI: 10.1136/jmg-2022-108627
  • Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C
    Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, Nicole I Wolf, Adeline Vanderver, Bernard Brais, Michel Sylvain, Daniela Pohl, Elsa Rossignol, Michael Saito, Sebastien Moutton, Luis González-Gutiérrez-Solana, Isabelle Thiffault, Michael C Kruer, Dolores Gonzales Moron, Marcelo Kauffman, Cyril Goizet, László Sztriha, Emma Glamuzina, Serge B Melançon, Sakkubai Naidu, Jean-Marc Retrouvey, Suzanne Lacombe, Beatriz Bernardino-Cuesta, Isabelle De Bie, Geneviève Bernard
    Journal of Medical Genetics Oct 2023, 60 (10) 1026-1034; DOI: 10.1136/jmg-2023-109223
  • A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia
    Eran Cohen-Barak, Nada Danial-Farran, Elana Chervinsky, Ola Alimi-Kasem, Fadia Zagairy, Ido Livneh, Bannan Mawassi, Maysa Hreish, Morad Khayat, Alexander Lossos, Vardiella Meiner, Nina Ehilevitch, Karin Weiss, Stavit Shalev
    Journal of Medical Genetics Mar 2023, 60 (3) 233-240; DOI: 10.1136/jmedgenet-2022-108508
  • 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
  • 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
  • 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

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